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Titolo:
SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick diseasetype C
Autore:
Tsukamoto, H; Yamamoto, T; Nishigaki, T; Sakai, N; Nanba, E; Ninomiya, H; Ohno, K; Inui, K; Okada, S;
Indirizzi:
Osaka Univ, Grad Sch Med, Dept Dev Med Pediat, Suita, Osaka 5650871, JapanOsaka Univ Suita Osaka Japan 5650871 Pediat, Suita, Osaka 5650871, Japan Tottori Univ, Ctr Gene Res, Yonago, Tottori, Japan Tottori Univ Yonago Tottori Japan , Ctr Gene Res, Yonago, Tottori, Japan Tottori Univ, Fac Med, Sch Life Sci, Dept Neurobiol, Yonago, Tottori 683, Japan Tottori Univ Yonago Tottori Japan 683 urobiol, Yonago, Tottori 683, Japan
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 1, volume: 21, anno: 2001,
pagine: 55 - 57
SICI:
0197-3851(200101)21:1<55:SABRFT>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHOLESTEROL; GENE; NPC1; NIEMANN-PICK-C1-DISEASE; ESTERIFICATION; POLYMORPHISMS; FIBROBLASTS; MUTATIONS;
Keywords:
prenatal diagnosis; Niemann-Pick disease type C; NPCl; mutation single-strand conformation; polymorphism (SSCP);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Inui, K Osaka Univ, Grad Sch Med, Dept Dev Med Pediat, 2-2 Yamadaoka,D-5, Suita, Osaka 5650871, Japan Osaka Univ 2-2 Yamadaoka,D-5 Suita Osaka Japan 5650871 0871, Japan
Citazione:
H. Tsukamoto et al., "SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick diseasetype C", PRENAT DIAG, 21(1), 2001, pp. 55-57

Abstract

The molecular prenatal diagnosis of Niemann-Pick disease type C (NPC) is presented. The proband with a late infantile type of NPC was a compound heterozygote of a paternal missense mutation, T529G, and a maternal 2 bp deletion at nt 350 of the NPC1 gene. These mutations were detected by single-strand conformation polymorphism (SSCP) analysis of RT-PCR products. When the proband was aged 4 years 3 months, prenatal diagnosis for the second child was performed using both biochemical and molecular methods. SSCP analysis for the parental mutations using cDNA from cultured amniotic fluid cells revealed the absence of both mutations and the fetus was diagnosed as being unaffected. This diagnosis was supported by a normal level of cholesterol esterification using cultured amniotic fluid cells. After the child's birth, when he was 21 months old, the diagnosis was confirmed by SSCP analysis of genomic DNAs of his family. This analysis also revealed a unique variation ofintron 13, IVS13 + 753-758 del TTTTTT, that was shared only by the probandand the father, and was suspected as bring linked to the T529G missense mutation. A combination of both biochemical and molecular analyses is very useful and reliable for prenatal diagnosis of Niemann-Pick disease type C. Copyright (C) 2001 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 01:37:13