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Titolo:
FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS
Autore:
MATSUURA T; HOSHIDE R; SETOYAMA C; SHIMADA K; HASE Y; YANAGAWA T; KAJITA M; MATSUDA I;
Indirizzi:
KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,1-1-1 HONJO KUMAMOTO 860 JAPAN KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,1-1-1 HONJO KUMAMOTO 860 JAPAN KUMAMOTO UNIV,SCH MED,DEPT BIOCHEM KUMAMOTO 860 JAPAN OSAKA UNIV,MICROBIAL DIS RES INST,DEPT MED GENET,DIV MOLEC BIOMED SUITA OSAKA 565 JAPAN CHILDRENS MED CTR OSAKA,HIGASHINARI KU OSAKA 537 JAPAN WAKAYAMA MED COLL,DEPT PEDIAT WAKAYAMA 640 JAPAN NAGOYA UNIV,SCH MED,DEPT PEDIAT,SHOWA KU NAGOYA AICHI 466 JAPAN
Titolo Testata:
Human genetics
fascicolo: 1, volume: 92, anno: 1993,
pagine: 49 - 56
SICI:
0340-6717(1993)92:1<49:FNGI5J>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY; FRAGMENT LENGTH POLYMORPHISMS; UREA CYCLE ENZYMOPATHIES; ENZYMATIC AMPLIFICATION; GEL-ELECTROPHORESIS; DNA; DIAGNOSIS; LOCUS; CARBAMOYLTRANSFERASE; IDENTIFICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
T. Matsuura et al., "FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS", Human genetics, 92(1), 1993, pp. 49-56

Abstract

Ornithine transcarbamylase deficiency (OTC), the most common inborn error of the urea cycle, shows an X-linked inheritance with frequent new mutations. Southern blots reveal only a small percent of the mutation, but amplification of cDNA or genomic DNA using the polymerase chainreaction (PCR) followed by DNA sequencing, has contributed greatly toovercoming this difficulty. Problems remaining are the limited availability of fresh liver samples for preparation of intact mRNA in the former case, and there are primer sequences for PCR for only some exons in the latter case. Here, we report the structures of intron sequenceswhich are long enough to analyze all exons and adjacent introns of the OTC gene using PCR and PCR single-strand conformation polymorphisms (PCR-SSCP). We carried out a DNA analysis of findings in five Japanesemale patients with neonatal or late onset form. Five patients had mutations in the protein coding region. C to G (S192R), A to T (D196V), Ato G (T264A), T to C (M268T), and C to T (R277W) substitutions. The first four of these were novel missense mutations and the presence of the mutation was confirmed in the corresponding families.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 12:33:52