Fragile X premutation screening in women with premature ovarian failure.

Abstract

We have screened 132 women with premature ovarian failure for fragile X (FRAXA) premutations. Three out of 23 (13%) pedigrees with the familial premature ovarian failure and 3/106 (3%) of women with the sporadic form of premature ovarian failure have FRAXA premutations compared with an expected prevalence of 1:590 (P=0.02). The mechanism of the association between FRAXA premutations and premature ovarian failure is unknown but as a genetic marker, FRAXA screening will be particularly valuable in predicting premature ovarian failure in some pedigrees and in the identification of families at risk of transmitting fragile X syndrome.

• Authors: G S Conway, N N Payne, J Webb, A Murray, P A Jacobs
• Journal: Human reproduction (Oxford, England) (Hum Reprod) Vol. 13 Issue 5 Pg. 1184-7 (May 1998) ISSN: 0268-1161 [Print] England
• PMID: 9647544 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FMR1 protein, human
• Genetic Markers
• Nerve Tissue Proteins
• RNA-Binding Proteins
• Fragile X Mental Retardation Protein

Topics

• Adult
• Female
• Fragile X Mental Retardation Protein
• Fragile X Syndrome (complications, diagnosis, genetics)
• Genetic Markers
• Genetic Testing
• Humans
• Male
• Minisatellite Repeats
• Mutation
• Nerve Tissue Proteins (genetics)
• Ovary (pathology)
• Pedigree
• Primary Ovarian Insufficiency (etiology, genetics, pathology)
• RNA-Binding Proteins
• Trinucleotide Repeats
• X Chromosome (genetics)