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Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia

摘要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.

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作者 曹守春 [1] 王绿娅 [2] 秦彦文 [2] 蔺洁 [2] 吴邦俊 [2] 刘舒 [2] 潘晓冬 [2] 杜兰平 [2] 陈保生 [3] 学术成果认领
作者单位 Laboratory of Infection and Immunity, Capital Institute of Pediatrics, Beijing 100020, China [1] Institute of Heart Lung and Blood Vessel Diseases, Beijing 100029, China [2] State Key Laboratory of Medical Molecular Biology, Basic Medical Institute, Chinese Academy of Medical Sciences, Beijing 100010, China [3]
分类号 R54
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发布时间 2004-02-20
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中华医学杂志(英文版)

中华医学杂志(英文版)

2003年116卷10期

1535-1538页

SCIMEDLINEISTICCSCDCABP

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