中国实用眼科杂志
中國實用眼科雜誌
중국실용안과잡지
CHINESE JOURNAL OF PRACTICAL OPHTHALMOLOGY
2013年
8期
1068-1071
,共4页
开角型青光眼%MYOC基因%基因突变
開角型青光眼%MYOC基因%基因突變
개각형청광안%MYOC기인%기인돌변
Open angle glaucoma%MYOC gene%Gene mutation
目的 探讨徐州地区一原发性开角型青光眼(POAG)家系的MYOC基因的突变位点.方法 对一四代POAG家系进行全面临床检查,对家系成员应用聚合酶链反应(PCR)扩增MYOC基因所有外显子及相邻内含子,对其产物进行直接测序.对照组为门诊随机选取的30名健康者.结果 家系的遗传方式符合常染色体显性遗传,确诊年龄为13～29岁.在所有患者中均发现MYOC第三外显子密码子由TAC变为TAA,对应的酪氨酸转为终止密码(Tyr360STOP).无该突变的家系成员中无POAG患者,2例尚未发现明显青光眼体征的家系成员和对照组30名均未发现任何突变位点.结论 Tyr360STOP是江苏地区这一原发性开角型青光眼家系的致病基因,突变的表型是发病年龄较轻的青少年性开角型青光眼(Juvenile onset open angle glaucoma,JOAG),具有较高的外显率.
目的 探討徐州地區一原髮性開角型青光眼(POAG)傢繫的MYOC基因的突變位點.方法 對一四代POAG傢繫進行全麵臨床檢查,對傢繫成員應用聚閤酶鏈反應(PCR)擴增MYOC基因所有外顯子及相鄰內含子,對其產物進行直接測序.對照組為門診隨機選取的30名健康者.結果 傢繫的遺傳方式符閤常染色體顯性遺傳,確診年齡為13～29歲.在所有患者中均髮現MYOC第三外顯子密碼子由TAC變為TAA,對應的酪氨痠轉為終止密碼(Tyr360STOP).無該突變的傢繫成員中無POAG患者,2例尚未髮現明顯青光眼體徵的傢繫成員和對照組30名均未髮現任何突變位點.結論 Tyr360STOP是江囌地區這一原髮性開角型青光眼傢繫的緻病基因,突變的錶型是髮病年齡較輕的青少年性開角型青光眼(Juvenile onset open angle glaucoma,JOAG),具有較高的外顯率.
목적 탐토서주지구일원발성개각형청광안(POAG)가계적MYOC기인적돌변위점.방법 대일사대POAG가계진행전면림상검사,대가계성원응용취합매련반응(PCR)확증MYOC기인소유외현자급상린내함자,대기산물진행직접측서.대조조위문진수궤선취적30명건강자.결과 가계적유전방식부합상염색체현성유전,학진년령위13～29세.재소유환자중균발현MYOC제삼외현자밀마자유TAC변위TAA,대응적락안산전위종지밀마(Tyr360STOP).무해돌변적가계성원중무POAG환자,2례상미발현명현청광안체정적가계성원화대조조30명균미발현임하돌변위점.결론 Tyr360STOP시강소지구저일원발성개각형청광안가계적치병기인,돌변적표형시발병년령교경적청소년성개각형청광안(Juvenile onset open angle glaucoma,JOAG),구유교고적외현솔.
Objective To determine the possible mutation in the MYOC gene underlying POAG in Jiangsu glaucoma family.Methods The members in a four generation POAG family were examined by senior ophthalmologists.All coding sequences of the myocilin gene plus the flanking sites were amplified by polymerase chain reaction (PCR).The control group was randomly selected from 30 healthy persons from outpatient using genomic DNA from all examined family members followed by sequencing of the PCR products.Results This family pedigree exhibited autosomal mode of inheritance,the onset age ranged from 13 to 29 years.A disease-causing missense mutation Tyr360STOP in the third exon of the myocilin gene was identified in all affected family members.None of the subjects without mutation had glaucoma.This mutation Tyr360STOP was not found in control group.Conclusions The myocilin sequence alteration Tyr360STOP is proved to be a disease-causing missense mutation.The mutation in this family is associated with a phenotype characterized by younger-onset open angle glaucoma and associated with a high penetrance.
