Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
SH Orkin, HH Kazazian Jr, SE Antonarakis, SC Goff… - Nature, 1982 - nature.com
SH Orkin, HH Kazazian Jr, SE Antonarakis, SC Goff, CD Boehm, JP Sexton, PG Waber…
Nature, 1982•nature.comCombined analysis of DNA polymorphisms in the human β-globin gene cluster and in
cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-
gene polymorphisms with particular flanking polymorphisms. A systematic study of cloned
genes identified several new mutations, one of which possibly affects transcription. The
strategy used may be applicable to other diseases of single-copy genes.
cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-
gene polymorphisms with particular flanking polymorphisms. A systematic study of cloned
genes identified several new mutations, one of which possibly affects transcription. The
strategy used may be applicable to other diseases of single-copy genes.
Abstract
Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms with particular flanking polymorphisms. A systematic study of cloned genes identified several new mutations, one of which possibly affects transcription. The strategy used may be applicable to other diseases of single-copy genes.
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