Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.

ABSTRACT:

Background

Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The alpha-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported. Moreover, the DEFA3 gene has been found to be absent in a significant proportion of control population subjects. CNVs involving immune genes, such as alpha-defensins, are possibly contributing to innate immunity differences observed between individuals and influence predisposition and susceptibility to disease.

Results

We have tested the DEFA3 absence in 697 samples from different human populations. The proportion of subje

SUBMITTER: Ballana E 

PROVIDER: S-EPMC1779775 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature