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学科主题: 临床医学
题名:
A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene
作者: Wang, DQ1; Wu, BQ1; Li, Y1; Heng, WJ1; Zhong, HH1; Mu, Y1; Wang, JJ1
关键词: familial hypercholesterolemia ; LDL receptor ; lipoproteins ; mutations ; phenotype
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2001
卷: 46, 期:3, 页:152-154
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: PROTEIN
英文摘要:

Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low-density lipoprotein receptor (LDLR) gene; it is characterized by a high concentration of LDL, which frequently gives rise to tendon xanthomas and premature coronary artery disease (CAD). Individuals with heterozygous FH in China often exhibit a milder phenotype than those in other countries. The diagnosis of heterozygous FH relies on the clinical phenotype and this does not always permit unequivocal diagnosis of the disease. In the course of investigation of FH in a Chinese population sample, we found a family whose proband showed a markedly raised concentration of LDL cholesterol in plasma, and the presence of skin and tendon xanthomata. We used single-strand conformation polymorphism (SSCP) analysis to screen all the 18 exons and the exon-intron boundaries of the LDLR gene. One novel homozygous mutation, replacing T by C at nucleotide 850 in exon 6 was identified. This change substituted cysteine for arginine at codon 263 (C263R) of the LDLR. By means of mutant aIlele-specific amplification, we unequivocally diagnosed six heterozygotes with this novel mutation in the proband′s family.

语种: 英语
WOS记录号: WOS:000167591800010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51729
Appears in Collections:北京大学第二临床医学院_期刊论文

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作者单位: 1.Peking Univ, Dept Med, Dept Pathol, Beijing, Peoples R China
2.Peking Univ, Peoples Hosp, Dept Hered, Beijing, Peoples R China

Recommended Citation:
Wang, DQ,Wu, BQ,Li, Y,et al. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene[J]. JOURNAL OF HUMAN GENETICS,2001,46(3):152-154.
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