CAJ | 학술논문

目的对来自重庆地区的1个原发性开角型青光眼(POAG)家系进行MYOC基因突变筛查,研究POAG与MYOC基因突变的相关性,探讨MYOC基因突变在中国人POAG发病中的作用.方法 1个4代共39例的青光眼家系,8例为已确诊患者,健康对照者100名.用单链构象多态性分析(SSCP)、PCR.限制性片段长度多态性(RFLP)和基因测序的方法筛选MYOC基因的突变(包括G34C、C136T、G144T、G227A、C624G、G736A、C1009G、A1036G、C1081T、G1099A、G1138A、A1139C、T1430A、C1441A和C1442T等),同时对检测到的突变结果进行生物信息学分析.结果在该家系中,发现1个G227A(Arg76Lys)突变,该突变存在2例已确诊的POAG患者和1例家系表型正常者中,健康对照者中未榆出.发现1个缺失突变(C1009del),该突变存在于家系中所有发病患者和1例4岁的子代亲属,健康对照者中未检出.未发现其他突变.由于C1009del突变是首次发现,据此我们申请了GenBank号,已发表的GenBank序列号为FJ237047,对应的蛋白序列号为ACI62293.结论 G227A(Arg76Lys)突变为已报道的多态性位点,与该家系青光眼的发病无相关性.移码突变C1009del突变与青光眼的发病密切相关,也可由此推测青光眼患者亲属的发病率较正常人高.
목적 대래자중경지구적1개원발성개각형청광안(POAG)가계진행MYOC기인돌변사사,연구POAG여MYOC기인돌변적상관성,탐토MYOC기인돌변재중국인POAG발병중적작용.방법 1개4대공39례적청광안가계,8례위이학진환자,건강대조자100명.용단련구상다태성분석(SSCP)、PCR.한제성편단장도다태성(RFLP)화기인측서적방법사선MYOC기인적돌변(포괄G34C、C136T、G144T、G227A、C624G、G736A、C1009G、A1036G、C1081T、G1099A、G1138A、A1139C、T1430A、C1441A화C1442T등),동시대검측도적돌변결과진행생물신식학분석.결과 재해가계중,발현1개G227A(Arg76Lys)돌변,해돌변존재2례이학진적POAG환자화1례가계표형정상자중,건강대조자중미유출.발현1개결실돌변(C1009del),해돌변존재우가계중소유발병환자화1례4세적자대친속,건강대조자중미검출.미발현기타돌변.유우C1009del돌변시수차발현,거차아문신청료GenBank호,이발표적GenBank서렬호위FJ237047,대응적단백서렬호위ACI62293.결론 G227A(Arg76Lys)돌변위이보도적다태성위점,여해가계청광안적발병무상관성.이마돌변C1009del돌변여청광안적발병밀절상관,야가유차추측청광안환자친속적발병솔교정상인고.
Objective To screen the mutations of MYOC gene in a Chinese primary open angle glaucoma (POAG) family from Cbengqing and investigate the relationship between the mutations in MYOC/TIGR gene and POAG.Methods In a large 4-generation glaucoma family, myocilin gene (MYOC) was screened in 39 family members, 8 of which were confirmed patients. Normal controls included 100 normal Chinese subjects.The known mutations of MYOC gene ( including G34C, C136T, G144T, G227A, C624G,G736A, C1009G, A1036G, C1081T, G1099A, G1138A, A1139C, T1430A, C1441A and C1442T) were detected by single strand conformation polymorphism(SSCP) , po]ymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing.Results G227A mutation was detected in 2 POAG patients and 1 asymptomatic patient, but not in the controls.Cl009del mutation was identified in all patients of the pedigree and an offspring member but not in the controls. No other mutations were detected.Since the C1009del mutation was revealed for the first time, a new GenBank number FJ237047 correponding to ACI62293 was applied.Conclusions The G227A mutation is a known site and there is no relationship between G227A mutation and glaucoma. But C1009del may be related to glaucoma which suggests that morbidity could be higher in the relatives of POAG than the controls.