genetic variation on chromosome 6 influences f cell levels in healthy individuals of african descent and hbf levels in sickle cell patients6号染色体上的遗传变异影响f细胞水平在健康个体的非洲裔和住宅水平镰状细胞的病人.pdfVIP

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genetic variation on chromosome 6 influences f cell levels in healthy individuals of african descent and hbf levels in sickle cell patients6号染色体上的遗传变异影响f细胞水平在健康个体的非洲裔和住宅水平镰状细胞的病人.pdf

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genetic variation on chromosome 6 influences f cell levels in healthy individuals of african descent and hbf levels in sickle cell patients6号染色体上的遗传变异影响f细胞水平在健康个体的非洲裔和住宅水平镰状细胞的病人

Genetic Variation on Chromosome 6 Influences F Cell Levels in Healthy Individuals of African Descent and HbF Levels in Sickle Cell Patients 1 1 1 2 2 3 Lisa E. Creary , Pinar Ulug , Stephan Menzel , Colin A. McKenzie , Neil A. Hanchard , Veronica Taylor , 4 2 1,5 Martin Farrall , Terrence E. Forrester , Swee Lay Thein * 1 King’s College London School of Medicine, Division of Gene and Cell, Based Therapy, James Black Centre, Denmark Hill Campus, London, United Kingdom, 2 Tropical Metabolism Research Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston, Jamaica, 3 National Blood Transfusion Centre, Kingston, Jamaica, 4 Department of Cardiovascular Medicine, Wellcome Trust Centre for Human, Genetics, University of Oxford, Oxford, United Kingdom, 5 King’s College Hospital, Department of Haematological Medicine, Denmark Hill, London, United Kingdom Abstract Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleotide polymorphisms (SNPs) in a 24-kb intergenic region, 33-kb upstream of the HBS1L gene and 80-kb upstream of the MYB gene, were typed in 177 healthy Afro-Caribbean subjects (AC) of approximately 7% European admixture, 631 healthy Afro- Germans (AG, a group of African and German descendents located in rural Jamaica with about 20% European admixture), 87 West African and Afro-Caribbean individuals with sickle cell anaemia (HbSS), as well as 75 Northern Europeans, which served as a contrasting population. Ass