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目的探讨成都地区特发性扩张型心肌病(IDCM)人群中是否存在Z带选择性缝接PDZ基序蛋白(ZASP)基因突变以及与该地区IDCM患者的相关性。方法2006年1月至2007年12月在四川大学华西医院采用聚合酶链反应-单链构象多态性技术(PCR-SSCP)结合DNA测序方法,筛检成都地区无血缘关系汉族人群(包括120例IDCM患者,100名健康对照者)ZASP基因外显子4、6、10的可能突变位点。结果在IDCM组和正常对照组中,ZASP基因外显子4、6单链构象多态性(SSCP)电泳图谱未发现差异;但外显子10SSCP电泳图谱发现差异,经DNA测序证实为G216T杂合子与T216T纯合子。G216T杂合子在IDCM组检出28例,对照组检出12例;T216T纯合子在IDCM组检出9例,对照组检出4例。G/T基因型及T等位基因频率在IDCM组和对照组中差异有统计学意义(P<0.05)。结论ZASP基因外显子10G216-T多态性与成都地区汉族IDCM患者遗传易感性相关;提示T等位基因为扩张型心肌病的易感基因。
Objective To investigate the existence of Z-band ZDSP mutation in IDCM population in Chengdu and its association with IDCM in this area. Methods From January 2006 to December 2007, polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA sequencing was used to screen the Han unrelated Han population in Chengdu (including 120 Cases of IDCM patients, 100 healthy controls) possible mutations of ZASP exon 4,6,10. Results There was no difference in single strand conformation polymorphism (SSCP) between exon 4 and 6 of ZCAP gene in IDCM group and normal control group. However, the difference of 10SSCP electrophoresis pattern of exon 10 was found by DNA sequencing. Zygote and T216T homozygotes. G216T heterozygotes were detected in IDCM group and 12 cases in control group, while in T2DM group, 9 cases were detected in IDCM group and 4 cases in control group. The frequencies of G / T genotype and T allele were significantly different between IDCM group and control group (P <0.05). Conclusion The exon 10G216-T polymorphism of ZASP gene is associated with the genetic predisposition of IDCM patients in Han nationality in Chengdu. It is suggested that the T allele is a predisposing gene for dilated cardiomyopathy.