Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.

ABSTRACT:

Background

Multi-allelic copy number variants include examples of extensive variation between individuals in the copy number of important genes, most notably genes involved in immune function. The definition of this variation, and analysis of its impact on function, has been hampered by the technical difficulty of large-scale but accurate typing of genomic copy number. The copy-variable alpha-defensin locus DEFA1A3 on human chromosome 8 commonly varies between 4 and 10 copies per diploid genome, and presents considerable challenges for accurate high-throughput typing.

Results

In this study, we developed two paralogue ratio tests and three allelic ratio measurements that, in combination, provide an accurate and scalable method for measurement of DEFA1A3 gene number. We combin

SUBMITTER: Khan FF 

PROVIDER: S-EPMC4046698 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature