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 Fluorometry1

Author:

Jiang Min1,Aittomäki Kristiina2,Nilsson Christel3,Pakarinen Pirjo1,Iitiä Antti3,Torresani Toni4,Simonsen Henrik5,Goh Victor6,Pettersson Kim3,de la Chapelle Albert78,Huhtaniemi Ilpo1

Affiliation:

1. Departments of Physiology (M.J., P.P., I.H.), University of Turku, 20520 Turku;

2. the Department of Clinical Genetics, Helsinki University Central Hospital (K.A.), 00029 Helsinki;

3. Biotechnology (C.N., A.I., K.P.), University of Turku, 20520 Turku;

4. the Division of Endocrinology (T.T.), University Children’s Hospital, CH-8032 Zurich, Switzerland;

5. the Department of Clinical Biochemistry (H.S.), Statens Serum Institute, 2300 Copenhagen, Denmark;

6. the Department of Obstetrics and Gynecology, National University of Singapore (V.G.), 119074 Singapore;

7. Folkhälson Institute of Genetics (A.d.I.C.), 00280 Helsinki, Finland;

8. the Comprehensive Cancer Center, Ohio State University (A.d.l.C.), Columbus, Ohio 43210

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.;Aittomäki;Cell,1995

2. The genetics of XX donadal dysgenesis.;Am J Hum Genet,1994

3. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.;Aittomäki;J Clin Endocrinol Metab,1996

4. Men homozygous for an inactivaing mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatagenesis and fertility.;Tapanainen;Nat Genet,1997

5. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.;Riordan;Science,1989

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