Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Carrier Proteins*
-
Cell Cycle Proteins*
-
Chromosome Mapping / methods
-
DNA-Binding Proteins*
-
E2F Transcription Factors
-
Female
-
Humans
-
In Situ Hybridization, Fluorescence / methods
-
Long Interspersed Nucleotide Elements / genetics*
-
Polymerase Chain Reaction / methods
-
Primary Ovarian Insufficiency / genetics*
-
Retinoblastoma-Binding Protein 1
-
Sulfotransferases / genetics*
-
Transcription Factor DP1
-
Transcription Factors / genetics*
-
X Chromosome*
Substances
-
Carrier Proteins
-
Cell Cycle Proteins
-
DNA-Binding Proteins
-
E2F Transcription Factors
-
Retinoblastoma-Binding Protein 1
-
Transcription Factor DP1
-
Transcription Factors
-
HS6ST2 protein, human
-
Sulfotransferases
-
heparan sulfate 6-O-sulfotransferase