Qin Li, Li Jingming
Department of Ophthalmology, The First Affiliated Hospital, Medical School, Xi'an Jiaotong University Xi'an 710061, China.
Yan Ke Xue Bao. 2007 Jun;23(2):75-8.
To investigate the mutations of MYOC gene in two family pedigrees with primary open-angle glaucoma(POAG) in Shanxi.
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.
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.
MYOC Ser341Pro mutation may be account for the POAG in the Pedigree 2.
研究山西两个原发性开角型青光眼（POAG）家系中MYOC基因的突变情况。
招募山西两个POAG家系并进行全面的眼科检查。从患者、亲属及正常对照者的外周血中提取基因组DNA。用7对引物通过聚合酶链反应（PCR）扩增MYOC基因的编码序列。对PCR产物进行测序以筛选突变位点。
在1号家系中未观察到MYOC基因突变。在2号家系中鉴定出一个错义MYOC突变，即Ser341Pro，但未患病的亲属及正常对照者中未出现该突变。
MYOC基因Ser341Pro突变可能是2号家系中POAG的病因。
