Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1998 Aug;35(8):637-40.
doi: 10.1136/jmg.35.8.637.

Studies of FRAXA and FRAXE in women with premature ovarian failure

A Murray  1 , J Webb, S Grimley, G Conway, P Jacobs
Affiliations

Studies of FRAXA and FRAXE in women with premature ovarian failure

A Murray et al. J Med Genet. 1998 Aug.

Abstract

Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF). We screened 147 women with idiopathic POF for the number of trinucleotide repeats at the FRAXA and FRAXE loci. We found six women with FRAXA premutations, including four familial and two sporadic cases, but no women with FRAXA full mutations. At the FRAXE locus there were no pre- or full mutations but there was an excess of small alleles with fewer than 11 repeats, including at least one small deletion at or near the triplet. The association of FRAXA premutations with POF confirms that premutation alleles can affect ovarian development or function or both.

PubMed Disclaimer

References

    1. Genomics. 1992 Jul;13(3):565-74 - PubMed
    1. N Engl J Med. 1991 Dec 12;325(24):1673-81 - PubMed
    1. Hum Mol Genet. 1993 Dec;2(12):2043-50 - PubMed
    1. Am J Hum Genet. 1994 Jul;55(1):81-6 - PubMed
    1. Hum Mol Genet. 1994 Apr;3(4):615-20 - PubMed

Publication types