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FRAXA premutation correlated with premature ovarian failure.
2004 JUL 1 - (NewsRx.com & NewsRx.net) -- Women with fragile X syndrome in the premutation range may suffer premature ovarian failure (POF).
"Our data corroborate the notion that females carrying alleles in the premutation range are at high risk of experiencing POF," reported M.D. Machado-Ferreira and colleagues of Estacio Sa University in Brazil.
According these researchers, "Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5' UTR region of the gene FMR-1. Four types of alleles can be identified in the population, based on the number of repeats: normal (640), gray-zone (41-60), premutated (61-200), and fully mutated (>200).
"Despite only full mutations being associated with the development of the disorder, some authors propose a correlation between FRAXA premutation and the occurrence of premature ovarian failure (POF). We have undertaken a study in 58 women from 24 fragile X syndrome families ascertained for FRAXA testing," the research team explained.
"Using Southern blotting for direct DNA analysis we have identified 19 normal, 33 ...
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Source: HighBeam Research, FRAXA premutation correlated with premature ovarian failure.