陕西省两个原发性开角型青光眼家系MYOC基因突变的研究

目的:研究陕西省两个原发性开角型青光眼家系MYOC基因突变情况。方法:分析陕西省两个原发性开角型青光眼家系。从先证者、家族成员及正常对照者外周静脉血中提取基因组DNA;根据MYOC基因编码序列合成7对特异性引物;应用PCR扩增MYOC基因3个外显子序列,DNA测序法双向测序筛选突变位点。结果:家系1中并未发现MYOC基因编码序列的突变位点;家系2中三个患者MYOC基因均存在异常(c.1021T>C杂合突变),导致myocilin蛋白第341位氨基酸由丝氨酸(S)转变为脯氨酸(P)即Ser341Pro错义突变,该家系正常成员及100例对照者中均未发现此突变。结论:MYOC基因Ser341Pro突变可能为家系2原发性开角型青光眼的致病原因。

Investigation on the Mutation of MYOC Gene in Two Family Pedigrees with Primary Open-Angle Glaucoma in Shanxi

Purpose: To investigate the mutations of MYOC gene in two family pedigrees with primary open-angle glaucoma(POAG) in Shanxi. Methods: Two POAG pedigrees in Shanxi were recruited and underwent complete ophthalmic examination. Genomic DNA was extracted from the peripheral blood of patients, of relatives and of normal controls. The coding sequence of MYOC gene was amplified by PCR with 7 pairs of primers. The PCR products were sequenced to screen for mutation sites. Result: In Pedigree 1, no MYOC mutations were observed. One missense MYOC mutation, Ser341Pro, was identified in Pedigree 2, but there was no mutation presented in unaffected relatives and normal controls. Conclusion: MYOC Ser341Pro mutation may be account for the POAG in the Pedigree 2.