Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Rapid detection of 3500Q and 3531 mutations and Mspl polymorphism in exon 26 at the apolipoprotein B gene
Autore:
Cavalli, SA; Hirata, MH; Hirata, RDC;
Indirizzi:
Univ Sao Paulo, Fac Pharmaceut Sci, Dept Clin & Toxicol Anal, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Sao Paulo Brazil BR-05508900 BC05508900 Sao Paulo, Brazil
Titolo Testata:
JOURNAL OF CLINICAL LABORATORY ANALYSIS
fascicolo: 1, volume: 15, anno: 2001,
pagine: 35 - 39
SICI:
0887-8013(2001)15:1<35:RDO3A3>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORONARY-ARTERY DISEASE; LDL RECEPTOR-BINDING; DNA POLYMORPHISMS; HEART-DISEASE; LIPID-LEVELS; POPULATION; ATHEROSCLEROSIS; CHINESE; SERUM; B-100;
Keywords:
apolipoprotein B gene; hypercholesterolemia; FDB mutations; DNA polymorphism; genetic markers;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Cavalli, SA Univ Sao Paulo, Fac Pharmaceut Sci, Dept Clin & Toxicol Anal, Av Lineu Prestes 580, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Av LineuPrestes 580 Sao Paulo Brazil BR-05508900 BC
Citazione:
S.A. Cavalli et al., "Rapid detection of 3500Q and 3531 mutations and Mspl polymorphism in exon 26 at the apolipoprotein B gene", J CL LAB AN, 15(1), 2001, pp. 35-39

Abstract

Several environmental and genetic factors are associated with high levels of cholesterol. Hypercholesterolemia is the main phenotype of Familial Defective Apolipoprotein B and Familial Hypercholesterolemia that are caused bymutations at the apolipoprotein (apo) B and LDL receptor genes, respectively. Identification of the specific genetic alteration associated with hypercholesterolemia is an important issue in clinical diagnosis of high risk for CAD. Apo B gene. mutations and polymorphisms are usually screened by SSCP, DGGE, and heteroduplex, which must be confirmed by DNA sequencing or by direct detection using PCR techniques, In this study, we have optimized a PCR-RFLP procedure for identification of 3500Q and 3531 mutations and Mspl polymorphism at the apo B gene. The technique can be performed in a single reaction, using the restriction endonuclease Mspl for simultaneous detection of 3500Q mutation and Mspl polymorphism, and Nsil for detection of 3531 mutation. The procedure was validated by analysis of control DNA samples from individuals carrying these mutations. Screening of 186 Brazilian hypercholesterolemic individuals showed that the frequency of the M-allele (7.8%) of Mspl polymorphism was similar to that found in other individuals with CAD. However, neither 3500Q nor 3531 mutations were detected in this group. In conclusion, this procedure is simple and rapid, being easily introduced in clinical laboratories for direct detection of the more frequent mutations atthe apo B gene associated with hypercholesterolemia. J. Clin. Lab. Anal. 15:35-39, 2001. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 10:11:00