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

被引：47

作者：

Davison, RW ^{[1
]}

Fox, M

Conway, GS

机构：

[1] UCL, Cobbold Labs, Div Endocrinol, Dept Med, London WC1N 8AA, England

[2] UCL, Galton Lab, Dept Biol, London NW1 2HE, England

来源：

MOLECULAR HUMAN REPRODUCTION | 2000年 / 6卷 / 04期

关键词：

E2F; HS6ST; long interspersed nuclear elements; premature ovarian failure;

D O I：

10.1093/molehr/6.4.314

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 pi 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.

引用

页码：314 / 318

页数：5

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