The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure

Lawrence C Layman, Sewit Amde, David P. Cohen, Mei Jin, Jun Xie

Research output: Contribution to journalArticle

93 Citations (Scopus)

Abstract

Objective: To determine whether the FSH receptor gene missense mutation in Finnish women with premature ovarian failure (POF) is present in North American women with POF. Design: Analysis of DNA from patients and controls. Patient(s): Thirty-five women with POF and ten normal controls. Intervention(s): Extraction of DNA with subsequent digestion by the enzyme Bsml, polyacrylamide gel electrophoresis, ethidium bromide staining, and photography. Main Outcome Measure(s): 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. Result(s): Bsml 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. Conclusion(s): The missense mutation in the human FSH receptor gent in Finnish women with POF is uncommon in North American women with POF. The molecular basis of ovarian failure for most patients remains unknown.

Original languageEnglish (US)
Pages (from-to)300-302
Number of pages3
JournalFertility and Sterility
Volume69
Issue number2
DOIs
StatePublished - Mar 26 1998
Externally publishedYes

Fingerprint

FSH Receptors
Primary Ovarian Insufficiency
Mutation
Digestion
Genes
Alleles
Missense Mutation
Base Pairing
Human Follicle Stimulating Hormone
Ethidium
Photography
DNA
Enzymes
Gene Frequency
Polyacrylamide Gel Electrophoresis
Outcome Assessment (Health Care)
Staining and Labeling

Keywords

  • Follicle-stimulating hormone receptor
  • Follicle-stimulating hormone receptor gene
  • Premature ovarian failure

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. / Layman, Lawrence C; Amde, Sewit; Cohen, David P.; Jin, Mei; Xie, Jun.

In: Fertility and Sterility, Vol. 69, No. 2, 26.03.1998, p. 300-302.

Research output: Contribution to journalArticle

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AU - Jin, Mei

AU - Xie, Jun

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AB - Objective: To determine whether the FSH receptor gene missense mutation in Finnish women with premature ovarian failure (POF) is present in North American women with POF. Design: Analysis of DNA from patients and controls. Patient(s): Thirty-five women with POF and ten normal controls. Intervention(s): Extraction of DNA with subsequent digestion by the enzyme Bsml, polyacrylamide gel electrophoresis, ethidium bromide staining, and photography. Main Outcome Measure(s): 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. Result(s): Bsml 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. Conclusion(s): The missense mutation in the human FSH receptor gent in Finnish women with POF is uncommon in North American women with POF. The molecular basis of ovarian failure for most patients remains unknown.

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