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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 summarize the clinical phenotypic characteristics and genetic patterns of a Chinese population with primary angle-closure glaucoma in Chinese Han Chinese and to screen for the existence of the third exon mutation of TIGR / MYOC gene in this family member. Methods The pediatric family members were examined by ophthalmology, including visual acuity, refractive examination, intraocular pressure (IOP) measurement with Goldmann tonometer, gonioscopy, automatic field examination and eye A ultrasound. The third exon of TIGR gene of 22 pedigree members was amplified by polymerase chain reaction (PCR), and the PCR products were sequenced. Results Primary angle-closure glaucoma was an autosomal dominant inheritance pattern in this family. Its clinical phenotype was chronic angle-closure glaucoma. Compared with the 6th generation members, 4th and 5th generation members had shorter axial and anterior chambers and thicker lens. 4th generation members of the average refractive status for hyperopia, the 5th generation of positive, the 6th generation of myopia, but the 6th generation is still a member of hyperopia. Twenty-two members of the family did not detect the third exon mutation or single nucleotide polymorphism (SNP) of the TIGR gene. Conclusion In this Chinese Han autosomal dominant primary angle-closure glaucoma family we excluded the relationship between the third exon mutation of TIGR gene and the onset of glaucoma.