The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure.
OBJECTIVE
To determine whether FSH receptor gene missense mutation in Finnish women with premature ovarian failure (POF) is present in North American women with POF.


METHODS
Analysis of DNA from patients and controls.


METHODS
Thirty-five women with POF and ten normal controls.


METHODS
Extraction of DNA with subsequent digestion by the enzyme BsmI, polyacrylamide gel electrophoresis, ethidium bromide staining, and photography.


METHODS
After restriction enzyme digestion, the frequencies of the normal allele (two fragments of 51 and 27 base pairs) and the mutant allele (a single 78-base pair fragment) were determined.


RESULTS
BsmI digestion was noted for all 35 affected individuals and 10 controls, thus demonstrating homozygosity for the normal FSH receptor allele. No patient or control was heterozygous or homozygous for the mutant allele.


CONCLUSIONS
The missense mutation in the human FSH receptor gene in Finnish women with POF is uncommon in North American women with POF. The molecular basis of ovarian failure for most patients remains unknown.
Layman
L C
LC
Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637, USA. LLAYMAN@BABIES.BSD.UCHICAGO.EDU
Amde
S
S
Cohen
D P
DP
Jin
M
M
Xie
J
J
D000293:Adolescent; D000328:Adult; D000483:Alleles; D004247:DNA / Q000032:analysis* / Q000235:genetics; D004171:Diploidy; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity; D005260:Female; D005387:Finland; D006801:Humans; D009656:North America; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000208:ethnology / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*
D011962:Receptors, FSH; D004247:DNA