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Titolo:
Nonradioactive detection. of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
Autore:
Dong, JL; Katz, DR; Eng, CM; Kornreich, R; Desnick, RJ;
Indirizzi:
NYU, Dept Human Genet, Mt Sinai Sch Med, New York, NY 10029 USA NYU New York NY USA 10029 Genet, Mt Sinai Sch Med, New York, NY 10029 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 2, volume: 73, anno: 2001,
pagine: 160 - 163
SICI:
1096-7192(200106)73:2<160:NDOTCC>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE DEAFNESS; SENSORINEURAL DEAFNESS; PRELINGUAL DEAFNESS; HIGH PREVALENCE; HEARING-LOSS; GENE GJB2; POPULATION; DFNB1;
Keywords:
nonradioactive; allele-specific oligonucleotide hybridization; Connexin 26; nonsyndromic recessive deafness; Ashkenazi Jewish population;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Desnick, RJ NYU, Dept Human Genet, Mt Sinai Sch Med, Box 1498,5th Ave & 100th St, New York, NY 10029 USA NYU Box 1498,5th Ave & 100th St New York NY USA 10029 0029 USA
Citazione:
J.L. Dong et al., "Nonradioactive detection. of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews", MOL GEN MET, 73(2), 2001, pp. 160-163

Abstract

Mutations in the gap junction beta2 (GJB2) gene, Connexin 26 (Cx26), causenonsyndromic sensorineural recessive deafness (NSRD). Two frameshift mutations, 167delT and 35delG, are the most frequent Cx26 lesions causing NSRD. The 35delG mutation is panethnic, while the 167delT lesion occurs almost exclusively in the Ashkenazi Jewish population at a carrier frequency of 2 to4%. To facilitate carrier detection, a simple nonradioactive allele-specific oligonucleotide (ASO) hybridization assay was developed for the 167delT and 35delG mutations. Screening of 1012 anonymous Ashkenazi Jewish individuals from the New York Metropolitan area revealed carrier frequencies for 167delT and 35delG of 3.96% (95% CI: 2.75-5.15%) and 0.69% (95% CI: 0.18-1.20%), respectively. This sensitive, specific, and relatively inexpensive method can reliably identify affected newborns and patients with NSRD as well as facilitate carrier screening for Conexin 26 deafness in the Ashkenazi Jewish community. (C) 2001 Academic Press.

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Documento generato il 31/03/20 alle ore 10:35:36