Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea.
OBJECTIVE
To determine whether women with idiopathic hypergonadotropic amenorrhea have unique alterations in the FSH receptor gene that could account for reduced activity.


METHODS
Compare FSH receptor genes of affected women with normally menstruating control subjects.


METHODS
Center for Reproductive Health and university departments.


METHODS
Fourteen female subjects, including four normally menstruating controls; four sibling sisters, two of whom developed premature ovarian failure (POF); four patients with POF; one patient with 46,XX gonadal dysgenesis (GD); and one patient with hypogonadotropic hypogonadism.


METHODS
Blood samples were collected.


METHODS
Restriction fragment length polymorphism (RFLP) analysis, single-stranded conformation polymorphism analysis, gel electrophoretic mobility of amplified genomic DNA, and FSH receptor gene sequence.


RESULTS
The DNA sequencing revealed allelic variants in one RFLP-positive control. There were two silent variants and one missense variant that resulted in a change from Asp to Gly at position 334 from the start Met in the amino acid sequence. Six of 10 subjects, including controls and patients with POF and GD, had an allelic variant in which A was changed to G at position 919 which caused Thr307 to be changed to Ala.


CONCLUSIONS
Allelic variants in the FSH receptor gene occur commonly in control subjects and affected patients.
Department of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Ohio 45267-0526, USA.
J Y
JY
Liu
J
J
Gromoll
M I
MI
Cedars
A R
AR
La Barbera
D000483:Alleles; D000568:Amenorrhea / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D014644:Genetic Variation; D006062:Gonadotropins / Q000378:metabolism*; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011962:Receptors, FSH / Q000235:genetics*; D012636:Secretory Rate; D017422:Sequence Analysis, DNA
D006062:Gonadotropins; D011962:Receptors, FSH