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Title: Identification of X chromosome genes causing premature ovarian failure
Author: Davison, Rina M.
ISNI:       0000 0001 3418 0626
Awarding Body: University of London
Current Institution: University College London (University of London)
Date of Award: 2001
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The aetiology of premature ovarian failure (POF), defined as menopause before the age of 40, is unknown in the majority of cases but include radiation, chemotherapy, infections, autoimmunity and genetic disorders. Some genetic forms of ovarian failure are associated with single gene defects e.g. FSH receptor, or with known genetic diseases e.g. Fragile X syndrome. POF is also associated with deletions and translocations affecting the X chromosome, and studies of families with X chromosome rearrangements have indicated 2 loci on the long arm of the X at which this association is particularly strong. The POF1 locus is designated Xq26-28 and the POF2 locus is at Xq13-21 and it is presumed that these 2 loci relate to ovary determining genes. One method of identifying ovarian determining genes is the study of naturally occurring defects of the X chromosome. Initial studies were conducted to determine the prevalence of abnormal karyotypes in seventy-nine POF patients. This identified a family in which POF had been transmitted through three generations in an X-linked dominant manner, in association with the karyotype 46XdelX(q26), a breakpoint interrupting the POF1 locus. The aims of the project were to determine possible POF candidate genes through characterisation of the breakpoint in this family, using the following methods; - o Polymerase chain reaction (PCR) using microsatellite markers o Fluorescent in situ hybridisation (FISH) using P1 Artificial Chromosomes o Computer based exon and gene searches Four possible genes were identified, (see figure), two of which have reproductive roles in other species. Ovarian expression of these two genes was analysed using Northern Blotting.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available
Keywords: Medicine