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目的 研究中国人FVLeiden基因突变引起的抗活化蛋白C现象 (APCR)。方法 采用APTT±APC方法、多聚酶链反应 (PCR)、MnLI限制性内切酶分析 ,序列特异性引物 (PCR SSP)和DNA测序方法 ,对中国汉族 30例“正常”无关个体和 2 0例血栓性疾病患者进行APCR测定和FVLeiden基因突变分析。结果 发现一例正常人抗APC敏感值比值 (APC SR)明显减低 (0 8) ,并确诊为FVLeiden基因 (Arg50 6 Gln)突变杂合子 ,其叔祖父、父亲、弟弟和儿子同样确定为FVLeiden基因杂合子 ;有 3例血栓性疾病患者APC SR低于正常 ,但均无FVLeiden基因突变。结论 这是在国内发现的首例四代FVLeiden突变所致的APCR现象的家系。中国人血栓症中APCR的产生是否导致其它未知的基因缺陷 ,尚待进一步研究。
Objective To investigate the anti-activated protein C (APCR) caused by mutations in Chinese FVLeiden gene. Methods The APTT ± APC method, polymerase chain reaction (PCR), MnLI restriction endonuclease analysis, sequence specific primers (PCR SSP) and DNA sequencing were used to analyze the association between 30 normal Chinese unrelated individuals and 20 thrombus Patients with sexually transmitted diseases were analyzed by APCR and FVLeiden gene mutations. The results showed that APC SR decreased significantly (P <0.01) and was diagnosed as a heterozygous mutant of FVLeiden gene (Arg50 6 Gln). Its grandfather, father, younger brother and son were also identified as FVLeiden heterozygote Homozygotes; 3 patients with thrombotic disease APC SR was lower than normal, but no FVLeiden gene mutation. Conclusion This is the first pedigree of APCR caused by the FV Leiden mutation in the fourth generation in China. Whether the generation of APCR in Chinese thrombosis leads to other unknown gene defects remains to be further studied.