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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-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 languageEnglish (US)
Pages (from-to)162-166
Number of pages5
JournalHuman Genetics
Volume87
Issue number2
DOIs
StatePublished - Jun 1 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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