CAJ | 학술논문

目的明确一国人低外显率视网膜母细胞瘤(RB)家系基因突变位点.方法对一个3代9人的汉族RB家系成员进行临床观察.采集家系中6人外周静脉血并提取基因组DNA.运用外显子结合目标区域捕获测序芯片进行检测;对候选致病性突变位点运用Sanger验证,确定致病性突变位点.结果家系9人中,先证者(Ⅲ2)为双眼RB,Ⅲ1为单眼RB;Ⅲ3为双眼RB,已死亡.除先证者外,Ⅲ1左眼及其他所有受试者眼底检查结果正常.基因检测结果显示,RB患儿及2名携带者(Ⅱ2、Ⅱ3)Rb1基因检出一个错义突变c.1981C＞T (p.Arg661Trp);2名正常者(Ⅱ1、Ⅱ4)未发现该突变.推测该家系RB外显率为50％.结论国人-RB低外显率家系中发现Rb1基因错义突变c.1981C＞T;RB外显率为50％.
목적 명학일국인저외현솔시망막모세포류(RB)가계기인돌변위점.방법 대일개3대9인적한족RB가계성원진행림상관찰.채집가계중6인외주정맥혈병제취기인조DNA.운용외현자결합목표구역포획측서심편진행검측;대후선치병성돌변위점운용Sanger험증,학정치병성돌변위점.결과 가계9인중,선증자(Ⅲ2)위쌍안RB,Ⅲ1위단안RB;Ⅲ3위쌍안RB,이사망.제선증자외,Ⅲ1좌안급기타소유수시자안저검사결과정상.기인검측결과현시,RB환인급2명휴대자(Ⅱ2、Ⅱ3)Rb1기인검출일개착의돌변c.1981C＞T (p.Arg661Trp);2명정상자(Ⅱ1、Ⅱ4)미발현해돌변.추측해가계RB외현솔위50％.결론 국인-RB저외현솔가계중발현Rb1기인착의돌변c.1981C＞T;RB외현솔위50％.
Objective To identify the pathogenic mutation in a three generation Chinese family withlow penetrance retinoblastoma (RB).Methods 8 from 9 family members received complete ophthalmicexaminations.DNA was extracted from 6 family members.Using exon combined target region capturesequencing chip to screen the candidate disease-causing mutations.Sanger sequencing were used to confirmthe disease-causing mutation.Results Among 9 family members, the proband (Ⅲ2) was bilateral RB, Ⅲ1was unilateral RB, Ⅲ 3 was dead for bilateral RB.Normal fundus were observed in the left eye of Ⅲ 1 andthe eyes of other family members except the proband.Sequence analysis of RB1 gene revealed a missensemutation c.1981C＞T (p.Arg661Trp) in the proband and two carriers (Ⅱ2, Ⅱ3), but not in the twonormal subjects (Ⅱ1, Ⅱ4).We suspect that the RB penetrance in the family was 50％.Conclusions Thereis a missense mutation c.1981C＞T in a Chinese family with low penetrance RB.The RB penetrancc is 50％.