Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Stuart H. Orkin; Haig H. Kazazian; Stylianos E. Antonarakis; Sabra C. Goff; Corinne D. Boehm; Julianne P. Sexton; Pamela G. Waber; Patricia J.V. Giardina

doi:10.1038/296627a0

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Stuart H. Orkin, Haig H. Kazazian, Stylianos E. Antonarakis, Sabra C. Goff, Corinne D. Boehm, Julianne P. Sexton, Pamela G. Waber, Patricia J.V. Giardina

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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.

Original language	English (US)
Pages (from-to)	627-631
Number of pages	5
Journal	Nature
Volume	296
Issue number	5858
DOIs	https://doi.org/10.1038/296627a0
State	Published - 1982
Externally published	Yes

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title = "Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster",

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.",

author = "Orkin, {Stuart H.} and Kazazian, {Haig H.} and Antonarakis, {Stylianos E.} and Goff, {Sabra C.} and Boehm, {Corinne D.} and Sexton, {Julianne P.} and Waber, {Pamela G.} and Giardina, {Patricia J.V.}",

year = "1982",

doi = "10.1038/296627a0",

language = "English (US)",

volume = "296",

pages = "627--631",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "5858",

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TY - JOUR

T1 - Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

AU - Orkin, Stuart H.

AU - Kazazian, Haig H.

AU - Antonarakis, Stylianos E.

AU - Goff, Sabra C.

AU - Boehm, Corinne D.

AU - Sexton, Julianne P.

AU - Waber, Pamela G.

AU - Giardina, Patricia J.V.

PY - 1982

Y1 - 1982

N2 - 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.

AB - 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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U2 - 10.1038/296627a0

DO - 10.1038/296627a0

M3 - Article

C2 - 6280057

AN - SCOPUS:0019949838

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JO - Nature

JF - Nature

IS - 5858

ER -

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Abstract

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