【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。更多还原

【Abstract】 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.更多还原