Peters’异常患者Sox11及CYP1B1基因变异分析

Genovariation Analysis of Sox11 and CYP1B1 in Patients with Peter's Anormaly

【目的】研究中国人Peters’异常患者Sox11及CYP1B1基因变异情况。【方法】从眼遗传疾病库中选取13例Peters’异常的先证者以及100例正常对照,采用直接测序的方法分析Sox11及CYP1B1基因的外显子及其相邻内含子基因变异情况;通过测序识别的基因突变,使用HA-SSCP分析的方法,在100例正常对照中做进一步评估。筛查中国人群Peters’异常患者Sox11及CYP1B1基因基因变异,并研究其相关表型。【结果】在13例Peters’异常的患者中检测到一个Sox11同义突变,一个CYP1B1错义突变,在正常对照中未发现此基因突变。【结论】本研究首次对Peters’异常患者进行Sox11进行基因筛查,并验证了CYP1B1是Peters’异常的致病基因之一,进一步扩大了Peters’异常患者CYP1B1基因突变的突变频谱,增加了我们对基因型与表型之间关系的认识,并有望为将来该疾病致病机制的基因学及功能学方面的研究提供基础。

[Objective] To investigate the genovariation of Soxll and CYP1B1 in Chinese population with Peters＇ anomaly. [Methods] 13 probands of Peters＇ anormaly and 100 normal controls were selected from our ocular genetic diseases bank. Cycle sequencing was used to analyze the exons and adjacent introns of Soxl 1 and CYP1B1. The variation detected was further evaluated in 100 normal controls using the heteroduplex analysis-single strand conformation polymorphism （HA-SSCP） methods. Screening the gene mutation of Soxll and CYP1B1 in Chinese patients with Peters＇ anormaly, and the related phenotypes of them. [Results] One synonymous mutation of Soxl 1 and one missense mutation of CYP1B1 were detected in the 13 patients with Peters＇ anormaly. No such new mutation was found in 100 normal controls. [ Conclusions ] To our knowledge, it is the first time of Soxl 1 gene screening on patients with Peters＇ anormaly. And our finding support the role of CYP1B1 as a causative gene in Peters＇ anormaly and expand the mutation spectrum of CYP1B1. Furthermore, it enriches our knowledge of genotype-phenotype relation. Our results may provide basis for the functional and genomic study of this kind of disease.