Topic: African, or Near Eastern and Southern European connections via HbS
supercar
unregistered
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Blood group phenotypes and the origin of sickle cell hemoglobin in Sicilians.
Sandler SG, Schiliro G, Russo A, Musumeci S, Rachmilewitz EA.
"As an approach to investigating the origin of sickle cell hemoglobin (hemoglobin S) in white persons of Sicilian ancestry, two groups of native Sicilians were tested for blood group evidence of African admixture. Among 100 unrelated Sicilians, the phenotypes cDe(Rho) and Fy(a-b-), and the antigens V(hrv) and Jsa, which are considered to be African genetic markers, were detected in 12 individuals. Among 64 individuals from 21 families with at least one known hemoglobin S carrier, African blood group markers were detected in 7 (11%). These findings indicate that hemoglobin S is only one of multiple African genes present in contemporary Sicilian populations. The occurrence of hemoglobin S in white persons of Sicilian ancestry is considered to be a manifestation of the continuing dissemination of the original African mutation."
Sickle cell disease in Sicily.
Roth EF Jr, Schiliro G, Russo A, Musumeci S, Rachmilewitz E, Neske V, Nagel R.
"The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated."
Source:Med Genet. 1980 Feb;17(1):34-8.
Sickle cell anemia and S-thalassemia in Sicilian children
Giovanna Russo and Gino Schiliro Division of pediatric Hematology and Oncology, University of Catania, Catania,
"HbS is endemic in Sicily area for and this anomaly has been described in Sicilians and in people of Sicilian ancestry (3). For thousands of years the Mediterranean basin has been the crossroad for trade, races, ideas, and art. The geographical position of Sicily at the center of the Mediterranean made it a natural stopover on these journeys. Phoenicians, Greeks, Carthaginians, Byzantines, Saracens, Normans, Spaniards, Arabs, Jews, and mercenaries from allover the world came to Sicily in large numbers to settle. In contrast with the past, there has been almost no immigration during the last few centuries. The genetic structure of the Sicilians is clearly not due to recent additions. The consensus is that the gene was introduced into Sicily and Southern Italy from Northern Africa through the trans-Saharan trade routes, or, alternatively, by means of the Greek colonisation, although the introduction of the gene into Sicily during the Muslim invasion cannot be excluded."
"The Benin haplotype accounts for HbS associated chromosomes in Sicily, 4 Northern Greece,10 Southern Turkey,11 and South West Saudi Arabia,6,7 suggesting that these genes had their origin in West Africa. The Asian haplotype is rarely encountered outside its geographic origin because there have been few large population movements and Indian emigrants have been predominantly from non HbS containing populations. However, it is of interest that the Asian haplotype was first described among descendants of Indian indentured laborers in Jamaica.12 The disease now occurs against diverse genetic and environmental backgrounds, which provide experimental models for investigating the mechanisms of the clinical and hematological variability of the disease."
PET-CT fusion imaging in differentiating physiologic from pathologic FDG uptake.-RadioGraphics 2004
"On the basis of the different prototypes of restriction enzyme locations, four different DNA configurations--the beta globin haplotypes associated with the sickle cell gene that designate the independent occurrences of the sickle cell mutation--have been recognized. They are named after the places where they were originally described (1,2).
I. Senegal haplotype, on the Atlantic coast of West Africa.
II. Bantu or Central African Republic haplotype, in Zaire, the Central African Republic, Angola, and Kenya.
III. Benin haplotype, in central West Africa, especially Ghana, Nigeria, Ivory Coast, and southwestern Saudi Arabia.
IV. Asian haplotype, in the eastern province of Saudi Arabia (2,3) and central India.
The Benin haplotype, with the gene of origin in West Africa, spread along the slave trading routes to North America and the Caribbean region and through migration to the Mediterranean region (Sicily, northern Greece, and southern Turkey) and to southwestern Saudi Arabia. Thus, two diverse forms of sickle cell disease exist in Saudi Arabia: the Benin haplotype in the southwestern region, apparently imported from Africa, and the Asian haplotype in the eastern province, possibly representing an independent local occurrence of the sickle cell mutation…However, the significantly lower mortality rate of end-stage sickle cell nephropathy patients in eastern Saudi Arabia (Asian haplotype) compared with that of African American patients (largely Benin haplotype) may conceivably be an additional difference in the survival of sickle cell disease patients receiving hemodialysis. For that reason, Saudi Arabia provides a unique opportunity for studying the clinical effects of the two different haplotypes within similar environments (3). -Dr Kostakoglu
S.O.Y. Keita American Journal of Human Biology 16:679-689 (2004)
"Populations should be viewed processually as dynamic entities over time and not "static" entities. The prescence of M35/215 lineages and the Benin sickle cell variant in southern Europe illustrates this well."
"The consideration of the results of this analysis, with the observation that the African peoples of the PN2 clade are tremendously diverse in skin color, body build, facial conformation, hair form, etc. forces a reexamination of the ideas about the relationship of craniofacial similarity to descent group in Africa."
Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease.
el-Hazmi MA, Warsy AS, Bashir N, Beshlawi A, Hussain IR, Temtamy S, Qubaili F.
Medical Biochemistry Department, World Health Organization Collaborating Centre for Haemoglobinopathies, Thalassaemias and Enzymopathies, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia.
"We collaborated with researchers from Egypt, Syrian Arab Republic and Jordan in a study of patients with sickle-cell disease from those countries, and from various parts of Saudi Arabia, in order to investigate the influence of genetics on the clinical presentation of the disease, and to attempt to determine the **origin** of the sickle-cell gene in Arabs. Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there are at least two major foci for the origin of the sickle-cell gene, one in the eastern part of Saudi Arabia, and the other in the populations of North Africa and the north-western part of the Arabian peninsula…The Benin haplotype was found in patients with severe disease, either as homozygous or in combination with another haplotype. The majority of Syrians and Jordanians had the Benin haplotype, and severe disease. However, one in three Syrians and one in five Jordanians had a milder disease, and the Saudi-Indian haplotype was identified. All Saudi patients from south-western and north-western areas, where the disease is generally severe, had the Benin haplotype in the homozygous or heterozygous state. Of the Saudi patients from the eastern area, where a mild form of SCD exists, only 9% had the Benin haplotype. The remainder had the Saudi-Indian haplotype, either in its homozygous or heterozygous state…Restriction endonuclease restriction sites have provided a useful insight into the normal polymorphic variations in the DNA surrounding various gene loci, where a combination of two or more polymorphic sites has led to the identification of specific haplotype patterns [13,14]. This has been of significance in the study of the regions surrounding the b-globin gene (i.e. the b-globin gene cluster), where several polymorphic sites have been identified, and population differences have been found on analysis of the haplotype pattern [9]. An interesting observation is that the sickle-cell mutation has occurred on chromosomes carrying different polymorphic sites and different b-globin gene haplotypes, and this seems to play a role in the clinical expression of SCD [9]. We compared the haplotype pattern of SCD patients from different Arabic-speaking countries. Benin haplotype was the major haplotype in all countries with a severe presentation of SCD and it was present in both the homozygous and heterozygous state. This was true for those SCD patients from south-western and north-western areas of Saudi Arabia, and for those from Egypt, Jordan and Syrian Arab Republic. On the other hand, patients from the eastern part of Saudi Arabia, who present with a significantly milder clinical picture, carried the Saudi-Indian b-globin gene haplotype either in its homozygous or heterozygous state."
"Les surprises de l'ADN ancien" de E. Crubezy et al. publié dans le magazine de vulgarisation scientifique La Recherche n°353 de Mai 2002."
quote:Thought Writes:
has anyone read this study on the finding of the Benin Sickle Cell haplotype in pre-dynastic Egyptain remains?
"Use of the amplification refractory mutation system (ARMS) in the study of HbS in predynastic Egyptian remains. Marin A, Cerutti N, Massa ER. publié dans Boll. Soc. Ital. Biol. Sper. 1999 May-Jun ;75(5-6):27-30"
Bottom Line: I think it is safe to say from these references, that HbS is much more than what some people make it out to be. It is not only region-specific related hereditary disease, but origins can also be traced!
[This message has been edited by supercar (edited 23 January 2005).]
posted
Just to note that S-thalassemia is a mutation for malaria adaptation. This sickel cell is different from what is found in most parts of the Mediterranean population.
Posts: 8675 | From: Tukuler al~Takruri as Ardo since OCT2014 | Registered: Feb 2003
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Presence of an African Beta-globin Gene Cluster Haplotype in Normal Chromosomes in Sicily
Ragusa et al. Am J Hematol, 1992; 40:313-315
"African admixture in Sicily has been long suspected because of the presence of the sickle gene. Nevertheless, the degree of African admixture cannot be derived from the study of HbS frequency, since this gene was most likely expanded by the selective pressure of malaria, for a long time endemic to the region. We have examined 142 individuals from the Sicilian town of Butera (12% sickle trait) to search for other markers of the globin gene cluster less likely to be selected for by malaria. The TaqI polymorphism in the intervening sequences between the two gamma genes is informative. We have found only two instances of this African marker (TaqI(-)) among 267 normal chromosomes, demonstrating that the admixture occurred at a much lower level than previously thought."
And this corollary information:
Romano et al. (2003) have detected sub-Saharan (Negroid) mtDNA sequences at a rate of 0.65% in a sample of 465 Sicilians, which is comparable to admixture levels for Western and Northern Europe. No Y-chromosomes of sub-Saharan origin have ever been observed in Sicilians.
[Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy). Ann Hum Genet; 67:42-53]
quote: No Y-chromosomes of sub-Saharan origin have ever been observed in Sicilians.
No one believes that.
It has been proposed that E3b originated in sub-saharan Africa and expanded into the Near EAst Northern Africa and Sourthern Europe. E3b - E-M78 was observed over a wide area including: East Africa (21.5%) North Africa (18.5%) and Europe (7.2%), the Balkans (20-32%), and Sicily (7.4%) - Y Chromosomes reveal multiple migratory events within and out of AFrica Cruciani, et al.
[This message has been edited by rasol (edited 24 January 2005).]
quote:Originally posted by Evil Euro: You forgot the most important one:
[b]Presence of an African Beta-globin Gene Cluster Haplotype in Normal Chromosomes in Sicily
Ragusa et al. Am J Hematol, 1992; 40:313-315
"African admixture in Sicily has been long suspected because of the presence of the sickle gene. Nevertheless, the degree of African admixture cannot be derived from the study of HbS frequency, since this gene was most likely expanded by the selective pressure of malaria, for a long time endemic to the region. We have examined 142 individuals from the Sicilian town of Butera (12% sickle trait) to search for other markers of the globin gene cluster less likely to be selected for by malaria. The TaqI polymorphism in the intervening sequences between the two gamma genes is informative. We have found only two instances of this African marker (TaqI(-)) among 267 normal chromosomes, demonstrating that the admixture occurred at a much lower level than previously thought."
And this corollary information:
Romano et al. (2003) have detected sub-Saharan (Negroid) mtDNA sequences at a rate of 0.65% in a sample of 465 Sicilians, which is comparable to admixture levels for Western and Northern Europe. No Y-chromosomes of sub-Saharan origin have ever been observed in Sicilians.
[Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy). Ann Hum Genet; 67:42-53]
Evil Euro, this doesn't say anything about the sick cell type not being African in origin. Sickle Cells can and have been traced back to their origins. The Benin type is predominant in Mediterranean populations. It's origins are obviously in Sub-Saharan Africa. It basically states that the "amount" of sub-saharan admixture in Sicilians can't be determined from sickle disease alone. Rasol has provided insight to another sub-Saharan admixture in southern Europeans. These are obviously not the only indicators of sub-Sahara African admixture in Sicilians. That's all this highlighted statement is trying to convey.
quote:[Ragusa et al. Am J Hematol, 1992; 40:313-315
"African admixture in Sicily has been long suspected because of the presence of the sickle gene. Nevertheless, the degree of African admixture cannot be derived from the study of HbS frequency, since this gene was most likely expanded by the selective pressure of malaria, for a long time endemic to the region.
[quote]Evil Euro, this doesn't say anything about the sick cell type not being African in origin. Sickle Cells can and have been traced back to their origins. The Benin type is predominant in Mediterranean populations. It's origins are obviously in Sub-Saharan Africa. It basically states that the "amount" of sub-saharan admixture in Sicilians can't be determined from sickle disease alone.
....and does not = therefore they are racially pure. EuroDisney hearing only what he wants to hear, as usual.
[This message has been edited by rasol (edited 24 January 2005).]
[*]Blood group phenotypes and the origin of sickle cell hemoglobin in Sicilians.
Sandler SG, Schiliro G, Russo A, Musumeci S, Rachmilewitz EA.
"As an approach to investigating the origin of sickle cell hemoglobin (hemoglobin S) in white persons of Sicilian ancestry, two groups of native Sicilians were tested for blood group evidence of African admixture. Among 100 unrelated Sicilians, the phenotypes cDe(Rho) and Fy(a-b-), and the antigens V(hrv) and Jsa, which are considered to be African genetic markers, were detected in 12 individuals. Among 64 individuals from 21 families with at least one known hemoglobin S carrier, African blood group markers were detected in 7 (11%). These findings indicate that hemoglobin S is only one of multiple African genes present in contemporary Sicilian populations. The occurrence of hemoglobin S in white persons of Sicilian ancestry is considered to be a manifestation of the continuing dissemination of the original African mutation."
[*]Sickle cell disease in Sicily.
Roth EF Jr, Schiliro G, Russo A, Musumeci S, Rachmilewitz E, Neske V, Nagel R.
"The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated."
Source:Med Genet. 1980 Feb;17(1):34-8.
[*]Sickle cell anemia and S-thalassemia in Sicilian children
Giovanna Russo and Gino Schiliro Division of pediatric Hematology and Oncology, University of Catania, Catania,
"HbS is endemic in Sicily area for and this anomaly has been described in Sicilians and in people of Sicilian ancestry (3). For thousands of years the Mediterranean basin has been the crossroad for trade, races, ideas, and art. The geographical position of Sicily at the center of the Mediterranean made it a natural stopover on these journeys. Phoenicians, Greeks, Carthaginians, Byzantines, Saracens, Normans, Spaniards, Arabs, Jews, and mercenaries from allover the world came to Sicily in large numbers to settle. In contrast with the past, there has been almost no immigration during the last few centuries. The genetic structure of the Sicilians is clearly not due to recent additions. The consensus is that the gene was introduced into Sicily and Southern Italy from Northern Africa through the trans-Saharan trade routes, or, alternatively, by means of the Greek colonisation, although the introduction of the gene into Sicily during the Muslim invasion cannot be excluded."
"The Benin haplotype accounts for HbS associated chromosomes in Sicily, 4 Northern Greece,10 Southern Turkey,11 and South West Saudi Arabia,6,7 suggesting that these genes had their origin in West Africa. The Asian haplotype is rarely encountered outside its geographic origin because there have been few large population movements and Indian emigrants have been predominantly from non HbS containing populations. However, it is of interest that the Asian haplotype was first described among descendants of Indian indentured laborers in Jamaica.12 The disease now occurs against diverse genetic and environmental backgrounds, which provide experimental models for investigating the mechanisms of the clinical and hematological variability of the disease."
[*]PET-CT fusion imaging in differentiating physiologic from pathologic FDG uptake.-RadioGraphics 2004
"On the basis of the different prototypes of restriction enzyme locations, four different DNA configurations--the beta globin haplotypes associated with the sickle cell gene that designate the independent occurrences of the sickle cell mutation--have been recognized. They are named after the places where they were originally described (1,2).
I. Senegal haplotype, on the Atlantic coast of West Africa.
II. Bantu or Central African Republic haplotype, in Zaire, the Central African Republic, Angola, and Kenya.
III. Benin haplotype, in central West Africa, especially Ghana, Nigeria, Ivory Coast, and southwestern Saudi Arabia.
IV. Asian haplotype, in the eastern province of Saudi Arabia (2,3) and central India.
The Benin haplotype, with the gene of origin in West Africa, spread along the slave trading routes to North America and the Caribbean region and through migration to the Mediterranean region (Sicily, northern Greece, and southern Turkey) and to southwestern Saudi Arabia. Thus, two diverse forms of sickle cell disease exist in Saudi Arabia: the Benin haplotype in the southwestern region, apparently imported from Africa, and the Asian haplotype in the eastern province, possibly representing an independent local occurrence of the sickle cell mutation…However, the significantly lower mortality rate of end-stage sickle cell nephropathy patients in eastern Saudi Arabia (Asian haplotype) compared with that of African American patients (largely Benin haplotype) may conceivably be an additional difference in the survival of sickle cell disease patients receiving hemodialysis. For that reason, Saudi Arabia provides a unique opportunity for studying the clinical effects of the two different haplotypes within similar environments (3). -Dr Kostakoglu
[*]S.O.Y. Keita American Journal of Human Biology 16:679-689 (2004)
"Populations should be viewed processually as dynamic entities over time and not "static" entities. The prescence of M35/215 lineages and the Benin sickle cell variant in southern Europe illustrates this well."
"The consideration of the results of this analysis, with the observation that the African peoples of the PN2 clade are tremendously diverse in skin color, body build, facial conformation, hair form, etc. forces a reexamination of the ideas about the relationship of craniofacial similarity to descent group in Africa."
[*]Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease.
el-Hazmi MA, Warsy AS, Bashir N, Beshlawi A, Hussain IR, Temtamy S, Qubaili F.
Medical Biochemistry Department, World Health Organization Collaborating Centre for Haemoglobinopathies, Thalassaemias and Enzymopathies, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia.
"We collaborated with researchers from Egypt, Syrian Arab Republic and Jordan in a study of patients with sickle-cell disease from those countries, and from various parts of Saudi Arabia, in order to investigate the influence of genetics on the clinical presentation of the disease, and to attempt to determine the **origin** of the sickle-cell gene in Arabs. Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there are at least two major foci for the origin of the sickle-cell gene, one in the eastern part of Saudi Arabia, and the other in the populations of North Africa and the north-western part of the Arabian peninsula…The Benin haplotype was found in patients with severe disease, either as homozygous or in combination with another haplotype. The majority of Syrians and Jordanians had the Benin haplotype, and severe disease. However, one in three Syrians and one in five Jordanians had a milder disease, and the Saudi-Indian haplotype was identified. All Saudi patients from south-western and north-western areas, where the disease is generally severe, had the Benin haplotype in the homozygous or heterozygous state. Of the Saudi patients from the eastern area, where a mild form of SCD exists, only 9% had the Benin haplotype. The remainder had the Saudi-Indian haplotype, either in its homozygous or heterozygous state…Restriction endonuclease restriction sites have provided a useful insight into the normal polymorphic variations in the DNA surrounding various gene loci, where a combination of two or more polymorphic sites has led to the identification of specific haplotype patterns [13,14]. This has been of significance in the study of the regions surrounding the b-globin gene (i.e. the b-globin gene cluster), where several polymorphic sites have been identified, and population differences have been found on analysis of the haplotype pattern [9]. An interesting observation is that the sickle-cell mutation has occurred on chromosomes carrying different polymorphic sites and different b-globin gene haplotypes, and this seems to play a role in the clinical expression of SCD [9]. We compared the haplotype pattern of SCD patients from different Arabic-speaking countries. Benin haplotype was the major haplotype in all countries with a severe presentation of SCD and it was present in both the homozygous and heterozygous state. This was true for those SCD patients from south-western and north-western areas of Saudi Arabia, and for those from Egypt, Jordan and Syrian Arab Republic. On the other hand, patients from the eastern part of Saudi Arabia, who present with a significantly milder clinical picture, carried the Saudi-Indian b-globin gene haplotype either in its homozygous or heterozygous state."
"Les surprises de l'ADN ancien" de E. Crubezy et al. publié dans le magazine de vulgarisation scientifique La Recherche n°353 de Mai 2002."
quote:Thought Writes:
has anyone read this study on the finding of the Benin Sickle Cell haplotype in pre-dynastic Egyptain remains?
"Use of the amplification refractory mutation system (ARMS) in the study of HbS in predynastic Egyptian remains. Marin A, Cerutti N, Massa ER. publié dans Boll. Soc. Ital. Biol. Sper. 1999 May-Jun ;75(5-6):27-30" een edited by supercar (edited 23 January 2005).]
Excellent data.
Posts: 5905 | From: The Hammer | Registered: Aug 2008
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posted
For the lazy one.. . Similar study was posted on ESR.
=== Digging out the origin and population genetic structure of West Africa ethnic groups by linking socio-anthropological and genome sequencing data
1O Doumbo, 2D Kwiatkowski 1 University of Bamako, Mali, 2 Oxford University/Wellcome Trust Sanger Institute, UK
West Africa has been a migration zone of modern human populations since the Neolithic. In Mali, the seat of some of the most ancient civilizations, a long history of ancestry and migration is maintained through the generations by the oral teaching of grandparents and Griots (musicians). The creation, expansion and destruction of different Empires and Kingdoms in Mali, since the 4th century, have been the origin of population admixture and migration throughout West Africa. Ethnic groups often maintain longlasting links across countries, e.g. the Malinde and the Dogon mutually invite their relatives during each big Historical event, the 60 years Sirius Star cycle of Sigui in the Dogon Country and the Kangaba feast in the Madinka area. We will present plans that we are formulating to determine the population genetic structure of ethnic groups in Mali by genome sequencing of approximately 100 individuals from each group. Our aim is to link this with socio-anthropological data concerning ethnic origins, and with biological data on parasite infection, such as malaria and intestinal helminths. Sympatric ethnic groups in Mali, e.g. the Dogon and the Fulani, differ in their susceptibility to malaria, and in allele frequencies for HbS and HbC, both of which confer resistance to malaria. We will discuss issues of study design and ethical engagement involved in this project, and how it might link in with other human genome diversity studies being formulated by African research groups as part of the H3Africa initiative.
-------------------- Without data you are just another person with an opinion - Deming Posts: 12143 | From: When you have eliminated the impossible, whatever remains, however improbable | Registered: Jun 2007
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posted
^ If you're referring to ME as the "lazy one", I beg to differ since I work 3 jobs -- 1 full time and two part time. Thanks but I found two sources of my own.
'ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil'
Braz J Med Biol Res, October 2003, Volume 36(10) 1283-1288
M.S. Gonçalves1, G.C. Bomfim1, E. Maciel1, I. Cerqueira1, I. Lyra, A. Zanette, G. Bomfim, E.V. Adorno, A.L. Albuquerque1, A. Pontes, M.F. Dupuit, G.B. Fernandes5 and M.G. dos Reis Sickle cell hemoglobin (HbS) is the result of a single nucleotide change (GAG®GTG) in the ß-globin gene, where valine replaces glutamic acid (ß6 Glu®val) at the sixth amino acid position of the ß-globin chain (1). Sickle cell anemia is caused by homozygosity of the ßS-gene and has a worldwide distribution. The disease progresses as severe chronic hemolytic anemia, presenting a heterogenous clinical course according to patient background and geographic region of origin (2). Milder clinical symptoms have been described in patients presenting a-2 thalassemia and high levels of fetal hemoglobin (HbF), related to the presence of specific haplotypes (3,4). ßS-Haplotypes are of different ethnic and geographic origins: the Benin type (BEN) originated in Midwestern Africa, the Bantu (CAR) type in South-Central and Eastern Africa, the Senegal (SEN) type in Atlantic West Africa, the Saudi Arabia-India type on the Indian subcontinent and the eastern Arabian peninsula, and the Cameroon type along the west coast of Africa (5).
Sickle cell disease affects millions worldwide, and occurs in one of every 500 African-American births, and in one of every 1000 to 4000 Hispanic-American births. In Brazil, the largest country in South America, the sickle cell trait is found at frequencies ranging from 6.9 to 15.4% of individuals of African descent (6). High immigration influxes have produced a population of significant cultural, social, and ethnic heterogeneity. Salvador is the capital of Bahia, a state in the Northeast region of Brazil, with 2.7 million people (7). The population has a high racial admixture with 85% of the African component (8). Historical data describing the slave trade in Bahia indicate the presence of slaves from central Africa (predominantly CAR haplotype) and from Western Africa (BEN haplotype), with a predominance of the latter. However, haplotype characterization has reported conflicting frequencies of CAR (9) and BEN (10) haplotypes.
'βs Haplotypes in various world populations' Human Genetics Volume 89, Number 1, 99-104, DOI: 10.1007/BF00207052
Cihan Öner, Aleksandar J. Dimovski, Nancy F. Olivieri, Gino Schiliro, John F. Codrington, Sladdehine Fattoum, Adekunle D. Adekile, Reyhan Öner, Gunes T. Yüregir and C. Altay, et al. Summary. We have determined the 13 s haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-[~-thalassemia, and in 322 HbS heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the Gy_ and Ay-globin genes through dot blot analysis of amplified DNA with 32p-labeled probes, and an analysis of isolated HbF by reversed phase high performance liquid chromatography to detect the presence of the ATX chain [Ay75 (E19) Ile~Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the 13 s gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual 13 s haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal ~A chromosomes is also presented.
Introduction Sickle cell anemia (SS) is one of the most common hereditary diseases. Its hematological characteristics and Offprint requests to: T. H. J. Huisman clinical severity are variable and are influenced by a number of factors, including the simultaneous presence of an a-thalassemia (a-thai), variations in HbF level, and the haplotype background that is linked to the 13- globin gene (for review see Nagel and Ranney 1990). There is also convincing evidence that the ~s mutation arose in Africa and Saudi Arabia-India on at least five different types of chromosomes. These chromosomes have distinct haplotypes that are linked to the [3 s gene and are numbered 17, 19, 20, 3, and 31, respectively, and are also known as the Cameroon, Benin, Bantu or CAR (Central African Republic), Senegal, and Saudi Arabia-India types, respectively (for review see Nagel and Ranney 1990; Schroeder et al. 1990). Determination of these haplotypes is based upon the presence or absence of different restriction sites (reviewed in Hattori et al. 1986). We recently detected certain mutations within the promoter regions of the Gy_ and Ay-globin genes and in the second intervening sequence (IVS-II) of the Ay-globin gene that are characteristic for the listed haplotypes (Lanclos et al. 1991; Dimovski et al. 1991). A [3 s chromosome with haplotype 19 has two specific mutations, one in each of the promoter sequences, namely -369 (C---~G) Gy and -657 (G-*T) Ay, that with haplotype 20 has a double-base mutation, a highly characteristic 6-bp deletion in the Gy promoter, and a single base pair mutation in the Ay promoter. A 13 s chromosome with haplotype 17 has none of these but carries a T~C mutation at codon 75 (Ay) leading to the synthesis of the A~tT chain (75 Ile---~Thr; Ricco et al. 1976). The 13s chromosome with either haplotypes 3 or 31 cannot be distinguished from each other by this procedure. Both have only the C---,T mutation at -158 in the Gy promoter that results in a high level of Gy chains..Posts: 26295 | From: Atlanta, Georgia, USA | Registered: Feb 2005
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