Article
A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.
Human mutation - 1 Jan 1993
Pepe G
Abstract excerpt
A new, highly polymorphic, region consisting of variable number of tandem repeats (VNTR) is described that occurs within intron 12 of the COL1A2 gene. This VNTR consists of the trinucleotide ACT repeated from 6 to 12 times. Of the six alleles so far detected four are common in the three major races. The two rare alleles, (ACT)11 and (ACT)12, have been found only in Africans. In addition, a rapid technique has...
Topics
- Base Sequence
- Collagen
- DNA
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta