Molecular analysis of the gonadotropin-releasing hormone receptor in patients with polycystic ovary syndrome.
OBJECTIVE
To determine whether a mutation in the GnRH receptor gene is responsible for polycystic ovary syndrome (PCOS).


METHODS
Molecular analysis of human genomic DNA.


METHODS
Academic research environment.


METHODS
Eighty patients with PCOS.


METHODS
Extraction and polymerase chain reaction (PCR) analysis of genomic DNA, confirmation of PCR products by ethidium bromide staining of agarose gels after electrophoresis, denaturing gradient gel electrophoresis of PCR products, and photography.


METHODS
Mutations in the GnRH receptor of women with PCOS.


RESULTS
Denaturing gradient gel electrophoresis revealed no mutations in the exonic sequence encoding the open reading frame of the GnRH receptor.


CONCLUSIONS
A mutation in the GnRH receptor gene is unlikely to be the underlying cause of PCOS in most patients. The molecular basis of this disorder remains unknown.
Cohen
D P
DP
University of Chicago Hospital, Pritzker Medical School, Illinois 60637, USA. dcohen@babies.bsd.uchicago.edu
Stein
E M
EM
Li
Z
Z
Matulis
C K
CK
Ehrmann
D A
DA
Layman
L C
LC
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D016366:Open Reading Frames; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011966:Receptors, LHRH / Q000235:genetics*
D011966:Receptors, LHRH