IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene
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
2001
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
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/51729
专题北京大学第二临床医学院
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
推荐引用方式
GB/T 7714
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.
APA Wang, DQ.,Wu, BQ.,Li, Y.,Heng, WJ.,Zhong, HH.,...&Wang, JJ.(2001).A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.JOURNAL OF HUMAN GENETICS,46(3),152-154.
MLA Wang, DQ,et al."A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene".JOURNAL OF HUMAN GENETICS 46.3(2001):152-154.
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