Evidence for multiple origins of the β(E)-globin gene in Southeast Asia

S. E. Antonarakis, S. H. Orkin, H. H. Kazazian, S. C. Goff, C. D. Boehm, P. G. Waber, J. P. Sexton, Harry Ostrer, V. F. Fairbanks, A. Chakravarti

Research output: Contribution to journalArticle

92 Citations (Scopus)

Abstract

To investigate whether recurrent mutation has contributed to the high frequency of the β(E)-globin gene in Southeast Asia, we used the haplotypes at three polymorphic restriction sites within and to the 3' side of the β-globin gene to predict the framework of 23 β(E)-globin genes. These haplotypes suggested that β(E)-globin genes are present in two different β-globin gene frameworks. DNA sequence determination of one gene representing each framework demonstrated that the same mutation (GAG → AAG at codon 26) was present in both frameworks. Moreover, the frameworks differed at three nucleotide positions known to be polymorphic in Mediterraneans. These polymorphic sites are located 70 nucleotides to the 5' side of the β(E) mutation and 382 and 1032 nucleotides to the 3' side of it. The existence of the β(E) mutation in these two β-globin gene frameworks can be explained by recurrent mutation giving rise to β(E)-globin, a double crossing-over event, or two single crossing-over events. Mathematical analysis suggests that the first alternative, recurrent mutation of G → A at the first nucleotide of codon 26, is most likely.

Original languageEnglish (US)
Pages (from-to)6608-6611
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume79
Issue number21 I
DOIs
StatePublished - 1982
Externally publishedYes

Fingerprint

Southeastern Asia
Globins
Mutation
Genes
Nucleotides
Codon
Haplotypes
DNA Sequence Analysis

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Antonarakis, S. E., Orkin, S. H., Kazazian, H. H., Goff, S. C., Boehm, C. D., Waber, P. G., ... Chakravarti, A. (1982). Evidence for multiple origins of the β(E)-globin gene in Southeast Asia. Proceedings of the National Academy of Sciences of the United States of America, 79(21 I), 6608-6611. https://doi.org/10.1073/pnas.79.21.6608

Evidence for multiple origins of the β(E)-globin gene in Southeast Asia. / Antonarakis, S. E.; Orkin, S. H.; Kazazian, H. H.; Goff, S. C.; Boehm, C. D.; Waber, P. G.; Sexton, J. P.; Ostrer, Harry; Fairbanks, V. F.; Chakravarti, A.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 79, No. 21 I, 1982, p. 6608-6611.

Research output: Contribution to journalArticle

Antonarakis, SE, Orkin, SH, Kazazian, HH, Goff, SC, Boehm, CD, Waber, PG, Sexton, JP, Ostrer, H, Fairbanks, VF & Chakravarti, A 1982, 'Evidence for multiple origins of the β(E)-globin gene in Southeast Asia', Proceedings of the National Academy of Sciences of the United States of America, vol. 79, no. 21 I, pp. 6608-6611. https://doi.org/10.1073/pnas.79.21.6608
Antonarakis, S. E. ; Orkin, S. H. ; Kazazian, H. H. ; Goff, S. C. ; Boehm, C. D. ; Waber, P. G. ; Sexton, J. P. ; Ostrer, Harry ; Fairbanks, V. F. ; Chakravarti, A. / Evidence for multiple origins of the β(E)-globin gene in Southeast Asia. In: Proceedings of the National Academy of Sciences of the United States of America. 1982 ; Vol. 79, No. 21 I. pp. 6608-6611.
@article{4dcf58a2889d4507a248f191b073d2a5,
title = "Evidence for multiple origins of the β(E)-globin gene in Southeast Asia",
abstract = "To investigate whether recurrent mutation has contributed to the high frequency of the β(E)-globin gene in Southeast Asia, we used the haplotypes at three polymorphic restriction sites within and to the 3' side of the β-globin gene to predict the framework of 23 β(E)-globin genes. These haplotypes suggested that β(E)-globin genes are present in two different β-globin gene frameworks. DNA sequence determination of one gene representing each framework demonstrated that the same mutation (GAG → AAG at codon 26) was present in both frameworks. Moreover, the frameworks differed at three nucleotide positions known to be polymorphic in Mediterraneans. These polymorphic sites are located 70 nucleotides to the 5' side of the β(E) mutation and 382 and 1032 nucleotides to the 3' side of it. The existence of the β(E) mutation in these two β-globin gene frameworks can be explained by recurrent mutation giving rise to β(E)-globin, a double crossing-over event, or two single crossing-over events. Mathematical analysis suggests that the first alternative, recurrent mutation of G → A at the first nucleotide of codon 26, is most likely.",
author = "Antonarakis, {S. E.} and Orkin, {S. H.} and Kazazian, {H. H.} and Goff, {S. C.} and Boehm, {C. D.} and Waber, {P. G.} and Sexton, {J. P.} and Harry Ostrer and Fairbanks, {V. F.} and A. Chakravarti",
year = "1982",
doi = "10.1073/pnas.79.21.6608",
language = "English (US)",
volume = "79",
pages = "6608--6611",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "21 I",

}

TY - JOUR

T1 - Evidence for multiple origins of the β(E)-globin gene in Southeast Asia

AU - Antonarakis, S. E.

AU - Orkin, S. H.

AU - Kazazian, H. H.

AU - Goff, S. C.

AU - Boehm, C. D.

AU - Waber, P. G.

AU - Sexton, J. P.

AU - Ostrer, Harry

AU - Fairbanks, V. F.

AU - Chakravarti, A.

PY - 1982

Y1 - 1982

N2 - To investigate whether recurrent mutation has contributed to the high frequency of the β(E)-globin gene in Southeast Asia, we used the haplotypes at three polymorphic restriction sites within and to the 3' side of the β-globin gene to predict the framework of 23 β(E)-globin genes. These haplotypes suggested that β(E)-globin genes are present in two different β-globin gene frameworks. DNA sequence determination of one gene representing each framework demonstrated that the same mutation (GAG → AAG at codon 26) was present in both frameworks. Moreover, the frameworks differed at three nucleotide positions known to be polymorphic in Mediterraneans. These polymorphic sites are located 70 nucleotides to the 5' side of the β(E) mutation and 382 and 1032 nucleotides to the 3' side of it. The existence of the β(E) mutation in these two β-globin gene frameworks can be explained by recurrent mutation giving rise to β(E)-globin, a double crossing-over event, or two single crossing-over events. Mathematical analysis suggests that the first alternative, recurrent mutation of G → A at the first nucleotide of codon 26, is most likely.

AB - To investigate whether recurrent mutation has contributed to the high frequency of the β(E)-globin gene in Southeast Asia, we used the haplotypes at three polymorphic restriction sites within and to the 3' side of the β-globin gene to predict the framework of 23 β(E)-globin genes. These haplotypes suggested that β(E)-globin genes are present in two different β-globin gene frameworks. DNA sequence determination of one gene representing each framework demonstrated that the same mutation (GAG → AAG at codon 26) was present in both frameworks. Moreover, the frameworks differed at three nucleotide positions known to be polymorphic in Mediterraneans. These polymorphic sites are located 70 nucleotides to the 5' side of the β(E) mutation and 382 and 1032 nucleotides to the 3' side of it. The existence of the β(E) mutation in these two β-globin gene frameworks can be explained by recurrent mutation giving rise to β(E)-globin, a double crossing-over event, or two single crossing-over events. Mathematical analysis suggests that the first alternative, recurrent mutation of G → A at the first nucleotide of codon 26, is most likely.

UR - http://www.scopus.com/inward/record.url?scp=0020451567&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020451567&partnerID=8YFLogxK

U2 - 10.1073/pnas.79.21.6608

DO - 10.1073/pnas.79.21.6608

M3 - Article

VL - 79

SP - 6608

EP - 6611

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

IS - 21 I

ER -