摘要
目的:研究常染色体显性遗传视网膜色素变性(ADRP)壮族家系的视紫红质(RHO)基因突变特征。方法:抽取ADRP壮族家系患者、家庭成员及正常对照者外周静脉血,提取DNA,聚合酶链反应(PCR)扩增和直接测序检测RHO基因5个外显子及其与内含子交界区域序列。结果:检测到该家系中1例患者的RHO基因第62位密码子存在ACC和ACT两种杂合类型;正常对照组发现2例成员的RHO基因IVS3+4C>T突变。结论:RHO基因Thr 62Thr与IVS3+4C>T两种沉默型突变不是ADRP壮族家系的致病原因,系RHO基因的多态现象,其致病基因有待进一步筛查。
Objective;To study the gene mutation characteristics in a Zhuang family with autosomal dominant retinitis pigmentosa （ADRP）. Methods： Venous bloods were drown and DNA samples were extracted from members of a Zhuang family with ADRP. PCR amplification and DNA sequencing were employed to detect potential mutations in five exons and related exon-intron junction regions of the RHO gene. Results： A heterogenous genotype （ACC/ACT） was detected at the codon 62 of RHO gene in one member of the ADRP family, while a IVS3 ＋4 C〉T mutation was found on RHO gene in 2 members of the control group. Conclusion. Mutations of Thr62Thr and IVS3＋4 C〉T in RHO gene were only polymorphisms of RHO gene rather than pathological causal variants for ADRP in the Zhuang family. The causal gene of this family needs further investigation.
出处
《广西医科大学学报》
CAS
2017年第6期873-875,共3页
Journal of Guangxi Medical University
基金
国家自然科学基金资助项目(No.81360066)
广西壮族自治区教育厅课题资助项目(No.2013YB290)
