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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 investigate the value of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in pedigree analysis of patients with familial hypercholesterolemiac (FH). Methods Four FH patients confirmed by PCR-SSCP screening and DNA sequence analysis (1 case of Homozygous FH exon 7 point mutation, 1 case of heterozygous point mutation in exon 14 and 2 cases of heterozygous point mutation Located in the 3 ’portion of exon 4), PCR-SSCP analysis of a total of 23 family members, and genotypes and phenotypes were compared. Results All the members of the pedigree had a clear diagnosis from the gene level. Among the 23 individuals, besides the probands, one homozygote and eight heterozygotes were also found. Conclusion PCR-SSCP can analyze the FH probands pedigrees and early diagnosis of their family members in order to provide advice and guidance.