Mapping of the POF1 locus and identification of putative genes for premature ovarian failure | Zendy

Rina M. Davison | Zendy

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Mapping of the POF1 locus and identification of putative genes for premature ovarian failure

Author(s) -

Rina M. Davison

Publication year - 2000

Publication title -

molecular human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.143

H-Index - 122

eISSN - 1460-2407

pISSN - 1360-9947

DOI - 10.1093/molehr/6.4.314

Subject(s) - biology , breakpoint , premature ovarian failure , gene , genetics , locus (genetics) , bacterial artificial chromosome , polymerase chain reaction , exon , gene mapping , gene duplication , comparative genomic hybridization , computational biology , chromosome , genome , endocrinology

We have identified a breakpoint on the X chromosome which is associated with premature ovarian failure (POF). Using polymerase chain reaction (PCR) probes of polymorphic microsatellites and fluorescent in-situ hybridization (FISH), this breakpoint has been narrowed to a region of 300 kb spanned by two P1 artificial chromosomes (PAC). Computer exon prediction and gene homology programs revealed three genes in this area. Our results suggest that two of these genes, HS6ST and E2F, and LINE 1 elements may be involved in ovarian development. Interruption of these genes could be the cause of POF. This study demonstrates how various molecular techniques and bioinformatic searches can complement each other in order to solve a clinical problem.

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