聚合酶链反应-单链构象多态性分析在家族性高胆固醇血症患者家系调查中的应用  

The application of polymerase chain reaction-single strain conformation polymorphism in the pedigree analysis of familial hypercholerolemia patients

作　　者：朱大明[1] 陈在嘉[1] 陈保生 陆宗良[1] 吕新跃 寇文鎔 徐义枢[1] 孙继良[1] 曾武威 杨跃进[1] 陈纪林[1] 高润霖[1] 杜怀明[2] 马咸成[2] 许海燕[1] 

机构地区：[1]中国医学科学院中国协和医科大学阜外心血管病医院心血管病研究所冠心病研究室,北京100037 [2]天津医科大学附属医院儿科

出　　处：《中华医学遗传学杂志》2000年第2期108-111,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!(39670312)

摘　　要：目的　探讨聚合酶链反应 -单链构象多态性分析 (polymerase chain reaction- single strainconformation polymorphism,PCR- SSCP)在家族性高胆固醇血症 (familial hypercholesterolemiac,FH)患者家系分析中的应用价值。方法　对于经 PCR- SSCP筛查、DNA序列分析证实的 4例 FH患者 (1例纯合子 FH外显子 7发生点突变 ,1例杂合子点突变位于外显子 14,2例杂合子点突变位于外显子 4的 3′部分 ) ,用 PCR- SSCP分析各家系成员共 2 3例 ,并对基因型和表型进行比较。结果　各家系成员均从基因水平明确了诊断 ,2 3例个体中 ,除先证者外 ,还发现 1例纯合子 ,8例杂合子。结论　 PCR- SSCP可对 FH先证者家系进行分析 ,并对其家系成员早期诊断 ,以便提供咨询和指导。Objective To discuss the value of polymerase chain reaction single strand conformation polymorphism(PCR SSCP) in the pedigree analysis of familial hypercholesterolemia(FH) patients. Methods For 4 patients with FH detected by PCR SSCP and DNA sequence analysis (1 homozygote has point mutation in exon 7, 1 heterozygote in exon 14,and 2 heterozygotes in 3′ part of exon 4 ),members of each pedigree, altogether 23 individuals,were analysed using PCR SSCP. Results Every member of the 4 pedigrees was examined genetically. Besides the 4 probands, another 1 homozygote and 8 heterozygotes were found. Conclusion The PCR SSCP method can be used in the pedigree analysis of FH probands.The early diagnosis of siblings and relatives can help to provide genetic consultation and direction so as to pay attention to development of hypercholesterolemia.

关 键 词：家族性 高胆固醇血症 PCR-SSCP 家系分析 

分 类 号：R589.2[医药卫生—内分泌]