title: A novel approach to rapid determination of betaS-globin haplotypes: sequencing of the Agamma-IVS-II region.
abstract: beta-Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as sickle cell disease. The sickle mutation occurs on five distinct haplotypes. The hitherto used methods are cumbersome and time-consuming, making haplotype determination a tedious procedure. We report our experience with a novel, rapid approach to haplotyping based on sequence polymorphisms in the Agamma-IVS-II region. We provide an algorithm that allows rapid assignment of the four African haplotypes carrying the sickle mutation.
authors.affiliation: Sickle Cell Center, Department of Medicine Medical College of Georgia, Augusta, Georgia, USA.
authors.forename: Amy E
authors.initials: AE
authors.lastname: Vinson
authors.forename: Aisha
authors.initials: A
authors.lastname: Walker
authors.forename: Dedrey
authors.initials: D
authors.lastname: Elam
authors.forename: Michele
authors.initials: M
authors.lastname: Glendenning
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
authors.forename: Betsy
authors.initials: B
authors.lastname: Clair
authors.forename: Jeanette
authors.initials: J
authors.lastname: Harbin
authors.forename: Abdullah
authors.initials: A
authors.lastname: Kutlar
mesh_terms: D000465:Algorithms; D044383:Black People; D004252:DNA Mutational Analysis / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006239:Haplotypes / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D006451:Hemoglobin, Sickle