Document Detail

Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia.
MedLine Citation:
PMID:  14570618     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: 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. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
Shouchun Cao; Lüya Wang; Yanwen Qin; Jie Lin; Bangjun Wu; Shu Liu; Xiaodong Pan; Lanping Du; Baosheng Chen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Chinese medical journal     Volume:  116     ISSN:  0366-6999     ISO Abbreviation:  Chin. Med. J.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-10-22     Completed Date:  2004-02-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7513795     Medline TA:  Chin Med J (Engl)     Country:  China    
Other Details:
Languages:  eng     Pagination:  1535-8     Citation Subset:  IM    
Laboratory of Infection and Immunity, Capital Institute of Pediatrics, Beijing 100020, China.
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MeSH Terms
Apolipoproteins B / genetics
Asian Continental Ancestry Group
Hyperlipoproteinemia Type II / genetics*
Receptors, LDL / genetics*
Reg. No./Substance:
0/Apolipoproteins B; 0/Receptors, LDL

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