先天性白内障合并高度近视一家系的遗传分析

The Genetic Analysis for Inherited Nuclear Cataract Combined with High Myopia in a Chinese Family

目的:分析一个遗传性先天性粉尘状白内障合并高度近视家系的遗传规律和特征,对其突变基因进行初步研究。方法:采集研究对象家庭成员血样,提取纯化DNA、选取多态性微卫星遗传标记并合成引物,聚合酶链反应和聚丙烯酰胺凝胶电泳。依据电泳结果进行连锁分析。结果:该家系临床表型为遗传性先天性粉尘状核性白内障合并高度近视。家系中先天性白内障伴高度近视和单纯性高度近视患者遗传方式均表现为常染色体显性遗传。该家系热休克蛋白转录因子4基因(HSF4)、转录调节因子基因(MAF)、细胞骨架蛋白基因(BFSP2)无突变。结论:先天性白内障和高度近视均表现为明显的遗传异质性和临床异质性。

Objective： To analyze genetic rules and characters of dust- nuclear cataract combined with high myopia in a family for four generations in Tianjin, China. Methods： The family history and clinical data were recorded. Clinical examinations were performed. Venous blood samples were collected and genomic DNA was extracted in all of 29 family members. Eleven unaffected members and 8 affected members in this family were involved in the study. The genes of all the involved members were amplified by polymerase chain reaction （PCR）. The microsatellite polymorphism was used as genetic markers. The PCR products from each DNA samples were separated on a 6% polyacrylamide gel and were analyzed. Allelesharing analysis was carried out for exclusion, Results： The clinical phenotype in this family was inherited dust-nuclear cataract combined with high myopia. Congenital cataract and high myopia were the autosomal dominant modes of inheritance in this family. The complete coding region and splice site of HSF4, MAF and BFSP2 were screened by direct sequencing. Conclusion： The pathogenic gene in this family should be identified through extensive scanning of genes. The association of HSF4, MAF and BFSP2 was excluded in this family.