Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

ABSTRACT: In this study we have used multiplex ligation-dependent probe amplification (MLPA) to measure the copy number of CFHR3 and CFHR1 in DNA samples from 238 individuals from the UK and 439 individuals from the HGDP-CEPH Human Genome Diversity Cell Line Panel. We have then calculated the allele frequency and frequency of homozygosity for the copy number polymorphism represented by the CFHR3/CFHR1 deletion. There was a highly significant difference between geographical locations in both the allele frequency (X(2)  = 127.7, DF = 11, P-value = 4.97x10(-22)) and frequency of homozygosity (X(2)  = 142.3, DF = 22, P-value = 1.33x10(-19)). The highest frequency for the deleted allele (54.7%) was seen in DNA samples from Nigeria and the lowest (0%) in samples from South America and Japan. The observed

SUBMITTER: Holmes LV 

PROVIDER: S-EPMC3629053 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature