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

• Published in: Chinese medical journal Vol. 116; no. 10; pp. 1535 - 1538
• Main Author: 曹守春 王绿娅 秦彦文 蔺洁 吴邦俊 刘舒 潘晓冬 杜兰平 陈保生
• Format: Journal Article
• Language: English
• Published: China Laboratory of Infection and Immunity, Capital Institute of Pediatrics, Beijing 100020, China%Institute of Heart Lung and Blood Vessel Diseases, Beijing 100029, China%State Key Laboratory of Medical Molecular Biology, Basic Medical Institute, Chinese Academy of Medical Sciences, Beijing 100010, China 01.10.2003
• Subjects: Adult; Apolipoproteins B - genetics; Asian Continental Ancestry Group; Child; China; Female; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II - genetics; Male; Mutation; Receptors, LDL - genetics; 低密度脂蛋受体; 基因突变; 遗传学; 高血脂症; China; polymerase chain reaction; familial hypercholesterolemia; low-density lipoprotein; DNA sequencing
• ISSN: 0366-6999; 2542-5641

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 carded 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 T3831) 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 T3831) were found in the LDL-R gene, which may result in FH and may be particularly pathogenetic genotypes in Chinese people.