Molecular characterization of seven beta-thalassemia mutations in Asian Indians
作者： H.H. Kazazian , S.H. Orkin , S.E. Antonarakis , J.P. Sexton , C.D. Boehm
DOI: 10.1002/J.1460-2075.1984.TB01853.X
关键词: Frameshift mutation 、 Haplotype 、 Linkage disequilibrium 、 Genetics 、 Genetic linkage 、 Gene 、 Mutation 、 Gene cluster 、 Biology 、 Nonsense mutation
摘要: To characterize systematically the mutations which produce beta-thalassemia in Asian Indians, we first determined DNA polymorphism haplotype beta-globin gene cluster of 44 chromosomes ethnic group. Nine different haplotypes were observed. Upon molecular cloning and partial sequencing one beta-gene from each eight two ninth, seven found. None these have been identified Mediterranean patients, even among five appeared identical groups. Indian included nonsense three frameshift mutations, deletion affecting an acceptor splice site, a donor site. The correlation specific mutation with was high but not invariant. Two associated more than but, instance, spread to new could be explained most simply by recombination 5' gene. In addition, four reported here others previously reported, observed on chromosome backgrounds that are except for status polymorphic HinfI site beta This does show significant linkage disequilibrium markers both 3' it, suggesting it lies within region relative sequence randomization.
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