Polygamy and genetics: Short Creek, Utah’s inbreeding mutation epidemic

[In 1990], 10-year-old boy was presented to Theodore Tarby, a doctor specialising in rare childhood diseases.

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[S]oon Tarby had diagnosed a total of eight new cases, in children ranging from 20 months to 12 years old.

In every case, the child had the same distinctive facial features, the same delayed development – most couldn’t sit up, let alone walk – and, crucially, they were from the same region on the Arizona-Utah border, known as Short Creek.

Even more intriguingly, this region is polygynous. In this small, isolated community of Fundamentalist Church of Jesus Christ of Latter-Day Saints (FLDS) – a group that split from the LDS in the early 20th Century – the likelihood of being born with fumarase deficiency is over a million times above the global average.

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“With polygyny you’re decreasing the overall genetic diversity because a few men are having a disproportionate impact on the next generation,” says Mark Stoneking, a geneticist at the Max Planck Institute for Evolutionary Anthropology, Germany. “Random genetic mutations become more important.”

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Since inbreeding tends to uncover “recessive” mutations that would normally remain in hiding, studying these communities has helped scientists to identify many disease-causing genes.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: The polygamous town facing genetic disaster