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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Female
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / complications*
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Fragile X Syndrome / diagnosis
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Fragile X Syndrome / genetics*
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Genetic Markers
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Genetic Testing
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Humans
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Male
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Minisatellite Repeats
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Mutation*
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Nerve Tissue Proteins / genetics
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Ovary / pathology
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Pedigree
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Primary Ovarian Insufficiency / etiology*
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Primary Ovarian Insufficiency / genetics*
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Primary Ovarian Insufficiency / pathology
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RNA-Binding Proteins*
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Trinucleotide Repeats
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X Chromosome / genetics
Substances
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FMR1 protein, human
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Genetic Markers
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Nerve Tissue Proteins
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RNA-Binding Proteins
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Fragile X Mental Retardation Protein