壮族家系显性视网膜色素变性RHO基因的突变筛查

Screening of RHO gene mutation in a Zhuang family with dominant retinitis pigmentosa

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。

Objective To 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）. Methods Peripheral 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 codon347 of RHO gene. Results No mutations were found in the codon 58 and codon 347 of RHO gene in this family. Conclusion There 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.