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

School of Medicine

Research output: Contribution to journal › Article › peer-review

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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 - Dec 1 1982

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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",

month = dec,

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doi = "10.1038/296627a0",

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volume = "296",

pages = "627--631",

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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 - 1982/12/1

Y1 - 1982/12/1

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

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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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