Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia / 中华医学杂志(英文版)
Chinese Medical Journal
; (24): 1535-1538, 2003.
Article
em En
| WPRIM
| ID: wpr-311639
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen the point mutation of the low-density lipoprotein receptor (LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, characterize the relationship between the genotype and the phenotype and discuss the molecular pathological mechanism of FH.</p><p><b>METHODS</b>A patient with clinical phenotype of homozygous FH and her parents were investigated for mutations in the promoter and all eighteen exons of the LDL-R gene. Screening was carried out using Touch-down PCR and direct DNA sequencing; multiple alignment analysis by DNASIS 2.5 was used to find base alteration, and the LDL-R gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that cause familial defective apo B100 (FDB) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>Two new heterozygous mutations in exons 4 and 9 of the LDL-R gene were identified in the proband (C122Y and T383I) as well as her parents. Both of the mutations have not been published in the LDL-R gene mutation database. No mutation of apo B100 (R3500Q) was observed.</p><p><b>CONCLUSION</b>Two new mutations (C112Y and T383I) were found in the LDL-R gene, which may result in FH and may be particularly pathogenetic genotypes in Chinese people.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Apolipoproteínas B
/
Receptores de LDL
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China
/
Povo Asiático
/
Genética
/
Heterozigoto
/
Homozigoto
/
Hiperlipoproteinemia Tipo II
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
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Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Chinese Medical Journal
Ano de publicação:
2003
Tipo de documento:
Article