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Titolo:
FIRST-TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY
Autore:
ORIMO H; NAKAJIMA E; HAYASHI Z; KIJIMA K; WATANABE A; TENJIN H; ARAKI T; SHIMADA T;
Indirizzi:
NIPPON MED COLL,DEPT BIOCHEM & MOLEC BIOL,BUNKYO KU,1-1-5 SENDAGI TOKYO 113 JAPAN NIPPON MED COLL,DEPT OBSTET & GYNECOL TOKYO 113 JAPAN
Titolo Testata:
Prenatal diagnosis
fascicolo: 6, volume: 16, anno: 1996,
pagine: 559 - 563
SICI:
0197-3851(1996)16:6<559:FPMDOI>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALKALINE-PHOSPHATASE GENE; LETHAL FORM; MUTATIONS;
Keywords:
INFANTILE HYPOPHOSPHATASIA; TISSUE-NON-SPECIFIC ALKALINE PHOSPHATASE; POLYMERASE CHAIN REACTION; CHORIONIC VILLUS SAMPLING; PRENATAL DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
H. Orimo et al., "FIRST-TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY", Prenatal diagnosis, 16(6), 1996, pp. 559-563

Abstract

We obtained a prenatal molecular diagnosis during the first trimesterin a Japanese woman whose first child (the proband) had been a compound heterozygote for infantile hypophosphatasia. We examined chorionic villus DNA samples obtained at 10 weeks of gestation for the base substitutions detected in the proband DNA using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and PCR-allele-specific oligonucleotide (ASO) analysis. The genotype of the fetus was the same as that of the proband. The same mobility shift patterns of single strand conformation polymorphism (SSCP) bands were observed in the fetus and the proband. This molecular approach to prenatal diagnosis appears to be more accurate than the enzymatic method and also more accurate and more rapid than the conventional RFLP method.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:30:14