江西籍开角型青光眼家系WDR36基因突变研究

发布时间：2018-09-14 14:17

【摘要】：目的:研究一个江西籍原发性开角型青光眼(POAG)家系成员是否存在WDR36基因突变,探讨WDR36基因在该POAG家系发病中可能的作用。方法 :经我院医学伦理委员会批准并遵循赫尔辛基宣言,收集家系成员静脉血或毛发标本。该POAG家系在世患者纳入实验A组,家系其他成员为实验B组,C组为正常对照组20人,提取出基因组DNA后应用PCR扩增,然后对PCR产物直接测序检测基因突变。结果:该家系中共发现6个突变包括2个新突变(Pro381Pro、Gly549Arg)及4个已报道过的突变(Tyr216Pro、Ile264Val、Ala449Thr、Val727Val),其中Pro381Pro、Val727Val、Tyr216Pro、Ile264Val在三组间突变频率差异无统计学意义。Ala449Thr只在A组2人中检测出,与C组相比突变频率差异有统计学意义。Gly549Arg在A组2人和B组3人中发现,未在C组检出,A组与C组相比突变频率差异有统计学意义,但B组与C组相比突变频率差异无统计学意义。结论:单独WDR36基因突变不足以引起POAG发病。WDR36基因是该家族性POAG的调节基因。
[Abstract]:Objective: to study the mutation of WDR36 gene in a member of (POAG) family of Jiangxi nationality primary open-angle glaucoma and to explore the possible role of WDR36 gene in the pathogenesis of this POAG family. Methods: venous blood or hair samples were collected from family members approved by the Medical Ethics Committee of our hospital and in accordance with the Helsinki Declaration. The living patients of the POAG family were included in the experiment group A, and the other members of the family were group B and group C as the normal control group. Genomic DNA was extracted and amplified by PCR, and then the gene mutation was detected by direct sequencing of the PCR products. Results: a total of 6 mutations including two new mutations (Pro381Pro,Gly549Arg) and four reported mutations (Tyr216Pro,Ile264Val,Ala449Thr,Val727Val) were found in this pedigree. There was no significant difference in the frequency of Pro381Pro,Val727Val,Tyr216Pro,Ile264Val mutation among the three groups. Ala449Thr was only detected in group A. Gly549 Arg was found in 2 persons in group A and 3 in group B, and there was no significant difference in mutation frequency between group A and group C. But there was no significant difference in mutation frequency between group B and group C. Conclusion: the mutation of WDR36 gene alone is not sufficient to cause the pathogenesis of POAG. WDR36 gene is the regulatory gene of the familial POAG.
【作者单位】：南昌大学第二附属医院眼科;
【基金】：江西省科技支撑计划基金资助项目(编号:2009BSB1117)
【分类号】：R775

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