Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
Autore:
Hidaka, K; Watanabe, Y; Tomita, M; Ueda, N; Higashi, M; Minatogawa, Y; Iuchi, I;
Indirizzi:
Kawasaki Med Sch, Dept Biochem, Kurashiki, Okayama 7010192, Japan KawasakiMed Sch Kurashiki Okayama Japan 7010192 , Okayama 7010192, Japan Kawasaki Med Sch, Dept Legal Med, Kurashiki, Okayama 7010192, Japan Kawasaki Med Sch Kurashiki Okayama Japan 7010192 , Okayama 7010192, Japan Yamaguchi Prefect Cent Hosp, Dept Clin Pathol, Hofu 7470065, Japan Yamaguchi Prefect Cent Hosp Hofu Japan 7470065 thol, Hofu 7470065, Japan Kawasaki Coll Allied Hlth Profess, Dept Med Illustrat & Design, Kurashiki,Okayama 7010194, Japan Kawasaki Coll Allied Hlth Profess Kurashiki OkayamaJapan 7010194 , Japan
Titolo Testata:
CLINICA CHIMICA ACTA
fascicolo: 1-2, volume: 303, anno: 2001,
pagine: 61 - 67
SICI:
0009-8981(200101)303:1-2<61:GAOGDF>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN BUTYRYLCHOLINESTERASE; ACETYLCHOLINESTERASE;
Keywords:
stored serum; BCHE genotype; missense mutation; ABO genotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Hidaka, K Kawasaki Med Sch, Dept Biochem, 577 Matsushima, Kurashiki, Okayama 7010192, Japan Kawasaki Med Sch 577 Matsushima Kurashiki Okayama Japan 7010192
Citazione:
K. Hidaka et al., "Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping", CLIN CHIM A, 303(1-2), 2001, pp. 61-67

Abstract

We established a method to determine the butyryleholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at -70 degreesC for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of theseBChE variants were characterized by a single nucleotide substitution. Fourof them were homozygotes and demonstrated a C-->T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T-->C transition mutation at codon 203 from TCA (Ser) to CCA (Pro)and a G-->C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available. (C) 2001 Elsevier vier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 10:08:23