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Titolo:
The frequency of an inactivating point mutation (C-566 -> T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry
Autore:
Jiang, N; Aittomaki, K; Nilsson, C; Pakarinen, P; Iitia, A; Torresani, T; Simonsen, K; Goh, V; Pettersson, K; de la Chapelle, A; Huhtaniemi, I;
Indirizzi:
Univ Turku, Dept Physiol, FIN-20520 Turku, Finland Univ Turku Turku Finland FIN-20520 ept Physiol, FIN-20520 Turku, Finland Univ Turku, Dept Biotechnol, FIN-20520 Turku, Finland Univ Turku Turku Finland FIN-20520 Biotechnol, FIN-20520 Turku, Finland Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki 00029, Finland Univ Helsinki Helsinki Finland 00029 Clin Genet, Helsinki 00029, Finland Folkhalsan Inst Genet, Helsinki 00280, Finland Folkhalsan Inst Genet Helsinki Finland 00280 et, Helsinki 00280, Finland Univ Zurich, Childrens Hosp, Div Endocrinol, CH-8032 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8032 inol, CH-8032 Zurich, Switzerland Statens Serum Inst, Dept Clin Biochem, DK-2300 Copenhagen, Denmark StatensSerum Inst Copenhagen Denmark DK-2300 K-2300 Copenhagen, Denmark Natl Univ Singapore, Dept Obstet & Gynecol, Singapore 119074, Singapore Natl Univ Singapore Singapore Singapore 119074 ngapore 119074, Singapore Ohio State Univ, Ctr Comprehens Canc, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 rehens Canc, Columbus, OH 43210 USA
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 12, volume: 83, anno: 1998,
pagine: 4338 - 4343
SICI:
0021-972X(199812)83:12<4338:TFOAIP>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTIC-FIBROSIS GENE; ALPHA-1-ANTITRYPSIN DEFICIENCY; LABELED OLIGONUCLEOTIDES; OVARIAN FAILURE; FSH RECEPTOR; DNA; PROBES; IDENTIFICATION; AMPLIFICATION; FLUORESCENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Huhtaniemi, I Univ Turku, Dept Physiol, Kiinamyllynkatu 10, FIN-20520 Turku, Finland Univ Turku Kiinamyllynkatu 10 Turku Finland FIN-20520 nland
Citazione:
N. Jiang et al., "The frequency of an inactivating point mutation (C-566 -> T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry", J CLIN END, 83(12), 1998, pp. 4338-4343

Abstract

We have described previously in the Finnish population an inactivating point mutation (C-566-->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 suppression of spermatogenesis, but no absolute infertility. To determine whether the same FSHR mutation occurs in other populations, its frequency was determined in Finland, Switzerland, Denmark, and the Chinese population of Singapore. The mutation was screened for using genomic DNA extracted from whale blood or dried blood spots. Exon 7 of the FSHR gene was first amplified usinga pair of biotinylated primers. The PCR products were then immobilized on streptavidin-coated microtitration wells and hybridized using short allele-specific oligonucleotide probes labeled with europium. Time-resolved fluorometry was used for europium signal detection. To test the reliability of this method, 40 isolated DNA samples and 35 dried blood spot samples were blindly tested for the C-566-->T FSHR mutation. The analyses yielded identicalresults with denaturing gradient gel electrophoresis and allele-specific restriction enzyme digestion of the same samples, thus demonstrating the reliability of the tested method. Automation of this procedure allows the screening of large numbers of samples, which was subsequently carried out to investigate the frequency of the C-566-->T mutation in the study populations. A total of 4981 samples from the above-mentioned 4 countries were analyzed. The frequency of the C-566-->T mutation was 0.96% for all Finnish samples(n = 1976), with a strong enrichment of the mutant allele in the northeastern part of the country. Only 1 mutation carrier was identified in the samples from Switzerland (n = 1162), whereas none was found in samples from Denmark (n = 1094) and the Singapore Chinese (n = 540). These results suggest that the C-566-->T mutation of the FSHR gene is enriched in Finland, but isuncommon in other populations.

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Documento generato il 01/04/20 alle ore 20:49:49