CA repeat polymorphism in the promoter region of the COL1A2 gene

Authors
Dietzsch, E Parker, MI
Citation
E. Dietzsch et Mi. Parker, CA repeat polymorphism in the promoter region of the COL1A2 gene, J HUM GENET, 44(6), 1999, pp. 419-420
Citations number
9
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
14345161 → ACNP
Volume
44
Issue
6
Year of publication
1999
Pages
419 - 420
Database
ISI
SICI code
1434-5161(1999)44:6<419:CRPITP>2.0.ZU;2-V
Abstract
A polymorphic CA dinucleotide repeat sequence has been identified within th e promoter of the human alpha 2(I) procollagen gene, located at 7q21.3-q22. 1. Nine alleles have been identified in unrelated individuals and the obser ved heterozygosity for the polymorphism was 0.66. This marker may be useful in the prenatal diagnosis of inherited connective tissue diseases in which the COL1A2 gene is involved. Furthermore, it may potentially improve the u sefulness of the COL1A2 genetic system as an anthropogenetic marker.