CAJ | 학술논문

目的检测和分析河南1个常染色体显性先天性静止性夜盲症( autosomal dominant congenital stationary night blindness,ADCSNB)家系相关基因的致病突变.方法从该家系14名成员的外周血提取基因组DNA,根据已报道的ADCSNB的3个致病基因的6个相关位点设计引物.利用PCR扩增相关位点所在的外显子,纯化扩增产物后进行正反向测序.结果在该家系患者的RHO基因中发现了1个c.281C＞T的杂合错义点突变,该突变在蛋白质水平将导致p.Thr94Ile的改变,而在该家系正常成员以及50名正常对照中未发现此突变.结论 RHO基因c.281C＞T突变(p.Thr94Ile)为该家系先天性静止性夜盲症发病的分子遗传学基础.
목적 검측화분석하남1개상염색체현성선천성정지성야맹증( autosomal dominant congenital stationary night blindness,ADCSNB)가계상관기인적치병돌변.방법 종해가계14명성원적외주혈제취기인조DNA,근거이보도적ADCSNB적3개치병기인적6개상관위점설계인물.이용PCR확증상관위점소재적외현자,순화확증산물후진행정반향측서.결과 재해가계환자적RHO기인중발현료1개c.281C＞T적잡합착의점돌변,해돌변재단백질수평장도치p.Thr94Ile적개변,이재해가계정상성원이급50명정상대조중미발현차돌변.결론 RHO기인c.281C＞T돌변(p.Thr94Ile)위해가계선천성정지성야맹증발병적분자유전학기출.
Objective To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.Methods Genomic DNA was extracted from peripheral blood samples of 14 family members.Based on 3 genes reported previously,PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR.PCR products were purified and directly sequenced.Results A c.281C＞T heterozygous missense mutation was detected in RHO gene in all of the patients.This mutation can cause a change of the protein structure (p.Thr94Ile).The same mutation was not detected in normal individuals from the family and 50 normal controls.Conclusion A c.281C＞T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.