中国汉族原发性闭角型青光眼大家系临床资料总结及TIGR基因第三外显子突变筛查  

Family study and exclusion of mutation in exon 3 of the TIGR gene in a Chinese primary angle closure glaucoma pedigree of the Han nationality

作　　者：曾文妮 张斌[2] 李金瑛[2] 丁克西[2] 刘璐玲[2] 傅培[2] 贠洪敏[2] 孙静静[3] 陈晓明[4] 

机构地区：[1]深圳市福田人民医院眼科,广东深圳518033 [2]北京大学深圳医院眼科,广东深圳518036 [3]南华大学生命医学科学院,湖南衡阳421000 [4]四川大学华西医院眼科,四川成都610041

出　　处：《徐州医学院学报》2008年第8期517-521,共5页Acta Academiae Medicinae Xuzhou

基　　金：国家自然科学基金(30600690);深圳市科技局项目(200602095)

摘　　要：目的总结一中国汉族原发性闭角型青光眼大家系临床表型特点及遗传模式,并筛查在该家系成员中是否存在TIGR/MYOC基因第三外显子突变。方法对该家系家庭成员进行眼科检查,包括视力、屈光检查、Goldmann压平眼压计测量眼压、房角镜检查、自动视野检查以及眼球A超检查。应用聚合酶链反应(PCR)扩增22名家系成员TIGR基因第三外显子,并对PCR产物进行测序分析。结果原发性闭角型青光眼在此家族中呈常染色体显性遗传模式,其临床表型为慢性闭角型青光眼。与第6代成员相比,第4代及第5代成员的眼轴及前房较短,晶状体较厚。第4代成员的平均屈光状态为远视,第5代为正视,第6代为近视,但第6代中仍有一名成员为远视。家族的22名成员中未检测到TIGR基因第三外显子突变或单核苷酸多态性(SNP)。结论在此中国汉族常染色体显性遗传原发性闭角型青光眼大家系中排除了TIGR基因第三外显子突变与青光眼发病之间的关系。Objective To identify the hereditary mode and clinical features of the disease in a Chinese primary angle closure glaucoma （PACG） pedigree of the Han nationality and to screen the existence of exon 3 mutation of TIGR genes in this family. Methods A Chinese 7 - generation PACG pedigree was enrolled in this study. The ophthalmologic examinations consisted of evaluation of visual acuity, refraction, Goldmann applanation tonomctry, gonloscopy, automatic visual field test and A ultrasonography. The coding sequence of exon 3 of the TIGR gene was extended to 22 family me bers by polymerasc chain reaction （PCR） using genomic DNA, followed by sequencing of the PCR products. Results The pedigree exhibited an autosomal dominant pattern of inheritance of PACG. The clinical features of PACG in this pedigree can be classified as chronic angle closure glaucoma. Relatively shorter axial length and anterior chamber depth with thicker lens were observed in the generations Ⅳ and Ⅴ than in the generation Ⅵ. The mean refraction status changed from hyperopic in generation Ⅳ to emmetropia in generation Ⅴ, while in generation Ⅵ, the mean refraction status was myopic, but still, there was one member in generation Ⅵ was hypcropic. Neither mutation nor SNP in exon 3 of the TIGR gent was detected in this pedigree. Conclusion The results of this study do not support a role of mutation in cxon 3 of the TIGR gone in the pathogencsis of PACG inherited with an autosomal dominant pattern in this Chinese pedigree.

关 键 词：原发性闭角型青光眼 家系 TIGR基因 中国人 

分 类 号：R775.4[医药卫生—眼科]