Sickle gene. Its origin and diffusion from West Africa

J. G. Mears; H. M. Lachman; R. Cabannes; K. P. Amegnizin; D. Labie; R. L. Nagel

doi:10.1172/JCI110294

Sickle gene. Its origin and diffusion from West Africa

J. G. Mears, H. M. Lachman, R. Cabannes, K. P. Amegnizin, D. Labie, R. L. Nagel

Psychiatry and Behavioral Sciences

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

30 Scopus citations

Abstract

Linked DNA polymorphisms can be used to study the evolution of structural gene mutations. Both the β(S)-[β⁶(Glu→Val) and β(C)-(β⁶(Glu→Lys)] genes are common in West Africa. We have analyzed their linkage to a polymorphic Hpa 1 site appearing 3' to the β-globin gene locus in selected populations from West Africa. A large reservoir of β(A)-genes linked to 13-kilobase Hpa 1 fragments with a frequency of 17-18% has been identified. In addition, the β(S)- and β(C)-genes in Togo are found to be tightly linked to the 13-kilobase Hpa 1 fragment, whereas 72% of the β(S)-genes in the Ivory Coast reside on the 7.6-kilobase Hpa 1 fragment. These studies are consistent with the selection and expansion of two different chromosomes bearing β(S)-genes in at least two physically close, but ethnically separate regions of West Africa, with subsequent diffusion to North, Equatorial, and East Africa.

Original language	English (US)
Pages (from-to)	606-610
Number of pages	5
Journal	Unknown Journal
Volume	68
Issue number	3
DOIs	https://doi.org/10.1172/JCI110294
State	Published - 1981

ASJC Scopus subject areas

Medicine(all)

Access to Document

10.1172/JCI110294

Cite this

@article{fb4ee506455c4882b6dfb92f750602c2,

title = "Sickle gene. Its origin and diffusion from West Africa",

abstract = "Linked DNA polymorphisms can be used to study the evolution of structural gene mutations. Both the β(S)-[β6(Glu→Val) and β(C)-(β6(Glu→Lys)] genes are common in West Africa. We have analyzed their linkage to a polymorphic Hpa 1 site appearing 3' to the β-globin gene locus in selected populations from West Africa. A large reservoir of β(A)-genes linked to 13-kilobase Hpa 1 fragments with a frequency of 17-18% has been identified. In addition, the β(S)- and β(C)-genes in Togo are found to be tightly linked to the 13-kilobase Hpa 1 fragment, whereas 72% of the β(S)-genes in the Ivory Coast reside on the 7.6-kilobase Hpa 1 fragment. These studies are consistent with the selection and expansion of two different chromosomes bearing β(S)-genes in at least two physically close, but ethnically separate regions of West Africa, with subsequent diffusion to North, Equatorial, and East Africa.",

author = "Mears, {J. G.} and Lachman, {H. M.} and R. Cabannes and Amegnizin, {K. P.} and D. Labie and Nagel, {R. L.}",

year = "1981",

doi = "10.1172/JCI110294",

language = "English (US)",

volume = "68",

pages = "606--610",

journal = "Unknown Journal",

issn = "0946-672X",

publisher = "Urban und Fischer Verlag GmbH und Co. KG",

number = "3",

}

TY - JOUR

T1 - Sickle gene. Its origin and diffusion from West Africa

AU - Mears, J. G.

AU - Lachman, H. M.

AU - Cabannes, R.

AU - Amegnizin, K. P.

AU - Labie, D.

AU - Nagel, R. L.

PY - 1981

Y1 - 1981

N2 - Linked DNA polymorphisms can be used to study the evolution of structural gene mutations. Both the β(S)-[β6(Glu→Val) and β(C)-(β6(Glu→Lys)] genes are common in West Africa. We have analyzed their linkage to a polymorphic Hpa 1 site appearing 3' to the β-globin gene locus in selected populations from West Africa. A large reservoir of β(A)-genes linked to 13-kilobase Hpa 1 fragments with a frequency of 17-18% has been identified. In addition, the β(S)- and β(C)-genes in Togo are found to be tightly linked to the 13-kilobase Hpa 1 fragment, whereas 72% of the β(S)-genes in the Ivory Coast reside on the 7.6-kilobase Hpa 1 fragment. These studies are consistent with the selection and expansion of two different chromosomes bearing β(S)-genes in at least two physically close, but ethnically separate regions of West Africa, with subsequent diffusion to North, Equatorial, and East Africa.

AB - Linked DNA polymorphisms can be used to study the evolution of structural gene mutations. Both the β(S)-[β6(Glu→Val) and β(C)-(β6(Glu→Lys)] genes are common in West Africa. We have analyzed their linkage to a polymorphic Hpa 1 site appearing 3' to the β-globin gene locus in selected populations from West Africa. A large reservoir of β(A)-genes linked to 13-kilobase Hpa 1 fragments with a frequency of 17-18% has been identified. In addition, the β(S)- and β(C)-genes in Togo are found to be tightly linked to the 13-kilobase Hpa 1 fragment, whereas 72% of the β(S)-genes in the Ivory Coast reside on the 7.6-kilobase Hpa 1 fragment. These studies are consistent with the selection and expansion of two different chromosomes bearing β(S)-genes in at least two physically close, but ethnically separate regions of West Africa, with subsequent diffusion to North, Equatorial, and East Africa.

UR - http://www.scopus.com/inward/record.url?scp=0019362219&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0019362219&partnerID=8YFLogxK

U2 - 10.1172/JCI110294

DO - 10.1172/JCI110294

M3 - Article

C2 - 6268660

AN - SCOPUS:0019362219

SN - 0946-672X

VL - 68

SP - 606

EP - 610

JO - Unknown Journal

JF - Unknown Journal

IS - 3

ER -

Sickle gene. Its origin and diffusion from West Africa

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this