Abstract
X chromosome abnormalities are the leading identifiable cause of premature ovarian failure (POF). POF-related abnormalities range from the complete absence of one X chromosome to assorted deletions and translocations to mutations in specific genes. The diversity of X chromosome abnormalities associated with POF indicates that the disorder is genetically heterogeneous. Potential molecular mechanisms include both dominant and recessive mutations in X-linked genes as well as nonspecific chromosome effects that impair meiosis. A list of candidate X-linked POF genes is emerging from molecular studies of X chromosome abnormalities, data from the Human Genome Project and related functional genomics projects, and the results of gene targeting experiments in mice. Mutational analysis of candidate genes in a large number of women with idiopathic POF is needed to determine which of these genes contribute to the cause of this disorder.
Original language | English (US) |
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Pages (from-to) | S34-36 |
Journal | Journal of the Society for Gynecologic Investigation |
Volume | 8 |
Issue number | 1 Suppl Proceedings |
DOIs | |
State | Published - 2001 |
ASJC Scopus subject areas
- Obstetrics and Gynecology