期刊论文

中文

现代生物医学进展

1673-6273

2009

9

19

3605-3608

国家自然科学基金（30771986,30772356）； 北京市自然科学基金（7062010,7092016）项目资助；

本校为第一机构

目的：对1例临床确诊为纯合型家族性高胆固醇血症（FH）先证者及其核心家系成员进行基因检测分析,探讨患儿发病的分子病理基础。方法：收集先证者及父母血标本及临床资料,酚氯仿法提取基因组DNA,DNA直接测序方法检测低密度脂蛋白受体（LDL-R）基因18个外显子和启动子及载脂蛋白B（ApoB100）R3500Q位点,核苷酸序列分析结果与Gen Bank比对寻找突变。结果：（1）先证者三尖瓣轻度关闭不全,先证者父母双侧颈总动脉内-中膜增厚,先证者母亲左侧颈内动脉起始处后壁多发混合回声斑块（2）该家系排除ApoB100基因R3500Q突变;（3）先证者LDL-R基因第13外显子发生A606T和D601Y复合杂合突变,前者第1879位G→A...

Objective：Genetic testing for one clinical proband with familial hypercholesterolemia（FH） and its core family members was performed to investigate the molecular pathological basis for the disease onset.Methods： Blood samples and clinical data were collected from the proband and the parents.They would undergo examinations of electrocardiogram and ultrasound.Phenol-chloroform method was applied for extraction of the family genome and DNA from both parents and the patient for verification. Direct sequencing for DNA would detect complete 18 exo...