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Genetic Deletion Responsible for Male Infertility

Science Daily,  Oct 29, 2012

October 29, 2012

A study published by Cell Press in the American Journal of Human Genetics has discovered genetic alterations which cause Severe Spermatogenic Failure (SSF), a male factor infertility condition

The study is a first of its kind and used data obtained from over 20,000 screenings of men in five countries including the United States. The research team found two genetic deletions responsible for a combined 8% of severely low sperm count. To date, six deletions in the area of the Y chromosome have been reported, but the prevalence of these deletions in the general population and their risk for infertility were not quite understood.

The most common genetic deletion, gr/gr, was found in 2% of men as well as 2% of cases and almost doubled the risk of SSF. The b2/b4 deletion, while found in less than 1% of men, accounted for about 6% of cases and increased risk 145 times.

Though further research is needed, these findings indicate there is a lot to be learned of genetics and male infertility.

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