家族性高胆固醇血症合并早发冠心病患者致病基因突变分析  

Pathogenic gene mutation in patients with familial hypercholesterolemia and premature coronary heart disease

作　　者：张筠婷[1] 王绿娅[2] 

机构地区：[1]中日友好医院心内科,北京100029 [2]首都医科大学附属北京安贞医院心肺血管疾病研究所,北京100029

出　　处：《中华实用诊断与治疗杂志》2015年第6期549-552,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家自然科学基金(81170810);北京市自然科学基金(7112022)

摘　　要：目的对家族性高胆固醇血症(familial hypercholesterlolemia,FH)合并早发冠心病的纯合子家系进行致病基因突变分析。方法对1例FH合并早发冠心病患者进行详细家系调查和临床体检,通过连锁分析初步确定易感基因,核苷酸序列分析该区域。结果本例患者诊断为"FH杂合子",其apoB100基因3500片段经核苷酸序列分析未发现突变,连锁分析发现患者致病基因肯定与低密度脂蛋白受体基因连锁,可能与PCSK9基因连锁,核苷酸序列分析发现该患者低密度脂蛋白受体基因第2外显子97位点C>T杂合终止突变。结论发现一个中国罕见致病基因突变,该突变为父系遗传。Objective To analyze the pathogenic gene mutation in a family with familial hypercholesterolemia（FH）and premature coronary heart disease.Methods A detailed pedigree investigation and clinical examination were done in one patient with FH and premature coronary heart disease.Linkage analysis was conducted to determine the susceptibility gene,and the nucleotide sequence analysis of this region was done to make an early gene diagnosis.Results The patient was diagnosed as FH heterozygous,and nucleotide sequence analysis of the 3500 pieces of the apoB100 gene fragment showed no mutation.Linkage analysis found that the pathogenic gene with high link of low density lipoprotein receptor gene had a possible linkage to PCSK9 gene,and further analysis showed that the mutation gene of low density lipoprotein receptor in the second exon 97 locus C T heterozygous terminated.Conclusion A Chinese rare pathogenic gene mutation has been found and is paternal inheritance.

关 键 词：家族性高胆固醇血症 早发冠心病 基因突变 

分 类 号：R541.4[医药卫生—心血管疾病] R589.2[医药卫生—内科学]