Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3

Hum Hered. 1996 Jul-Aug;46(4):239-40. doi: 10.1159/000154360.

Abstract

We have identified a CA repeat in intron 10 of the human alpha 2(VI) collagen gene (COL6A2), located on chromosome 21q22.3. At least seven alleles ranging from 14 to 20 repeats have been demonstrated by the polymerase chain reaction from genomic DNA of 71 random unrelated healthy persons.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 21 / genetics*
  • Collagen / genetics*
  • Dinucleotide Repeats / genetics*
  • Gene Frequency
  • Genes / genetics
  • Genetic Markers / genetics
  • Humans
  • Introns / genetics
  • Polymorphism, Genetic*

Substances

  • Genetic Markers
  • Collagen