Article
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry.
The Journal of clinical endocrinology and metabolism - 1 Dec 1998
Jiang M, Aittomäki K, Nilsson C, Pakarinen P, Iitiä A, Torresani T, Simonsen H, Goh V, Pettersson K, de la Chapelle A, Huhtaniemi I
Abstract excerpt
We have described previously in the Finnish population an inactivating point mutation (566C-->T) in the human FSH receptor (FSHR) gene. In women, this mutation causes hypergonadotropic ovarian failure with arrest of follicular maturation and infertility, whereas in men, there is variable suppress...
Topics
- Alleles
- Asian People
- Base Sequence
- Denmark
- Female
- Finland
- Fluorometry
- Gene Frequency
- Humans
- Infant, Newborn
- Male
- Nucleic Acid Hybridization
- Point Mutation
- Polymorphism, Restriction Fragment Length