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Titolo:
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome
Autore:
Rivero, MB; Olicio, R; Lima, CR; Bonvicino, CR; Moreira, MAM; Llerena, JC; Seuanez, HN;
Indirizzi:
Inst Nacl Canc, Div Genet, BR-20230130 Rio De Janeiro, Brazil Inst Nacl Canc Rio De Janeiro Brazil BR-20230130 BCio De Janeiro, Brazil FIOCRUZ, Inst Fernandes Figueira, BR-21045900 Rio De Janeiro, Brazil FIOCRUZ Rio De Janeiro Brazil BR-21045900 BC45900 Rio De Janeiro, Brazil Univ Fed Rio de Janeiro, Dept Genet, Rio De Janeiro, Brazil Univ Fed Rio de Janeiro Rio De Janeiro Brazil t, Rio De Janeiro, Brazil
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 103, anno: 2001,
pagine: 48 - 55
SICI:
0148-7299(20010915)103:1<48:MAOHSC>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; X-INACTIVATION; INCONTINENTIA PIGMENTI; LETHAL ALLELES; HYPOXANTHINE; GENE; SELECTION; DELETION; HETEROZYGOTES; DIAGNOSIS;
Keywords:
hypoxanthine-guanine phosphoribosyltransferase; Lesch-Nyhan syndrome; heterozygous carrier; somatic cell hybrids; X chromosome inactivation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Seuanez, HN Inst Nacl Canc, Div Genet, Praca Cruz Vermelha,23-6 Andar, BR-20230130 RioDe Janeiro, Brazil Inst Nacl Canc Praca Cruz Vermelha,23-6 Andar Rio De Janeiro Brazil BR-20230130 BC
Citazione:
M.B. Rivero et al., "Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome", AM J MED G, 103(1), 2001, pp. 48-55

Abstract

Heterozygous carriers of HPRT1 mutations responsible for Lesch-Nyhan syndrome can be detected by analysis of somatic cell hybrids derived from peripheral blood lymphocytes and Hprt1-negative cells of rodent origin followed by selection in culture medium containing hypoxanthine, aminopterine, and thymidine (HAT). The parental origin of the X chromosome containing the normal HPRT1 allele in HPRT1(+) hybrid cell lines can be determined by molecularhaplotyping attributable to highly polymorphic X-linked markers. We used this procedure to study a presumed carrier whose paternal active X chromosome always segregated in the cell hybrids derived from her. Conversely, her maternal X chromosome was systematically absent in most cell hybrids, or when present, it was inactive and coexisted with an active, paternal X chromosome. These results clearly demonstrated that the proband was a heterozygouscarrier of a mutation responsible for HPRT1 deficiency. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 25/11/20 alle ore 18:37:36