The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Clair A. Francomano; Garry R. Cutting; Mary Kay McCormick; Mon Li Chu; Rupert Timpl; Hee Kyung Hong; Stylianos E. Antonarakis

doi:10.1007/BF00204174

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Clair A. Francomano, Garry R. Cutting, Mary Kay McCormick, Mon Li Chu, Rupert Timpl, Hee Kyung Hong, Stylianos E. Antonarakis

School of Medicine

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

23 Scopus citations

Abstract

The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.

Original language	English (US)
Pages (from-to)	162-166
Number of pages	5
Journal	Human genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1007/BF00204174
State	Published - Jun 1991

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q",

abstract = "The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.",

author = "Francomano, {Clair A.} and Cutting, {Garry R.} and McCormick, {Mary Kay} and Chu, {Mon Li} and Rupert Timpl and Hong, {Hee Kyung} and Antonarakis, {Stylianos E.}",

year = "1991",

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doi = "10.1007/BF00204174",

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T1 - The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

AU - Francomano, Clair A.

AU - Cutting, Garry R.

AU - McCormick, Mary Kay

AU - Chu, Mon Li

AU - Timpl, Rupert

AU - Hong, Hee Kyung

AU - Antonarakis, Stylianos E.

PY - 1991/6

Y1 - 1991/6

N2 - The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.

AB - The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.

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The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Abstract

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