Polymorphism of DNA sequence in the human pro α2(I) collagen gene

Date
1985
Authors
Grobler-Rabie A.F.
Brebner D.K.
Van Den Plas S.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
The human pro α2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro α2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.
Description
Keywords
collagen gene, dna polymorphism, gene location, genetic engineering, heredity, human, human cell, normal value, nucleotide sequence, priority journal, procollagen type 1 alpha2, restriction fragment length polymorphism, Chromosome Mapping, Collagen, Deoxyribonuclease HpaII, DNA Restriction Enzymes, Gene Frequency, Genes, Structural, Human, Pedigree, Polymorphism (Genetics), Support, Non-U.S. Gov't
Citation
Journal of Medical Genetics
22
3