壮族家系显性视网膜色素变性RHO基因的突变筛查(1)
壮族家系显性视网膜色素变性RHO基因的突变筛查,常染色体显性遗传,限制性片段长度多态性
【摘要】目的探讨一壮族常染色体显性遗传(ADRP)视网膜色素变性(RP)家系视紫红质(RHO)基因第58、347密码子是否存在突变。 方法采集一连续4代发病的壮族ADRP家系29名成员外周血DNA，应用聚合酶链式反应限制性片段长度多态性法对RHO基因的上述密码子进行检测。结果RHO基因第58、347密码子在该壮族家系中未发现突变。结论该壮族家系ADRP发病与RHO基因第58、347密码子不相关，其发病的分子遗传学机制有待进一步研究。【关键词】视网膜色素变性；常染色体显性遗传；RHO基因；限制性片段长度多态性
中图分类号：R774.1 文献标识码：ADOI：10.3969/j.issn.10031383.2015.04.003
【Abstract】ObjectiveTo investigate whether mutation existed in codon 58 and codon 347 of rhodopsin (RHO) gene of retinitis pigmentosa (RP)in a Zhuang family with autosomal dominant retinitis pigmentosa (ADRP).MethodsPeripheral blood DNA of 29 members was collected from a Zhuang family whose four generations had suffered from ADRP.Polymerase chain reaction (PCR)―Restriction fragment length polymorphism (RFLP) was applied to detect the codon 58 and codon 347 of RHO gene.Results No mutations were found in the codon 58 and codon 347 of RHO gene in this family.ConclusionThere is no relation between the morbidity of ADRP and the codon 58 and codon 347 of RHO gene in the Zhuang family.And further research is needed to be carried out on the molecular genetic mechanism of its onset. ......
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