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Hum Reprod ; 19(12): 2759-66, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15459172

ABSTRACT

BACKGROUND: Balanced X;autosome translocations interrupting the 'critical region' of the long arm of the human X chromosome are often associated with premature ovarian failure (POF). However, the mechanisms leading to X-linked ovarian dysfunction are largely unknown, as the majority of the X chromosome breakpoints have been mapped to gene-free genomic regions. A few genes have been found to be interrupted, but their role has never been clarified. METHODS AND RESULTS: By fine mapping of the X chromosome breakpoint of an X;autosome balanced translocation, we identified a new interrupted gene, POF1B. We performed a mutation analysis of POF1B and of another gene previously identified, DACH2, localized approximately 700 kb distal in Xq21, in a cohort of >200 Italian POF patients. Rare mutations were found in patients in both genes. CONCLUSIONS: Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype.


Subject(s)
Microfilament Proteins/genetics , Mutation , Nuclear Proteins/genetics , Primary Ovarian Insufficiency/genetics , Proteins/genetics , Adolescent , Adult , Amino Acid Sequence , Child , Chromosomes, Human, X , DNA Mutational Analysis , DNA-Binding Proteins , Dosage Compensation, Genetic , Female , Genetic Variation , Humans , Middle Aged , Molecular Sequence Data , Transcription Factors , Translocation, Genetic
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