CAJ | 학술논문

目的：联合多重连接依赖探针扩增技术（multiplex ligation‐dependent probe amplication ，MLPA）和短串联重复序列（short tandem repeat ，STR）基因连锁分析检测SMN1基因，分析父母及患者的遗传关系以提高携带者检出率。方法收集先证者及家系成员的资料，采用MLPA对先证者及其直系亲属SMN1基因的第7外显子及8外显子进行拷贝数检测，并对其家系进行STR分析。结果确诊的2例患儿均为SMN1基因第7和8外显子纯和缺失，母亲为携带者，父亲为“2＋0”携带者，家系2胎儿为携带者。结论 MLPA 能检测SMN基因外显子突变情况，STR连锁可分析风险染色体的来源，所以STR连锁分析能发现MLPA 检测不到的携带情况。将两种方法结合可以减少对携带者的误判，为高危胎儿的受累风险提供准确遗传咨询。
목적：연합다중련접의뢰탐침확증기술（multiplex ligation‐dependent probe amplication ，MLPA）화단천련중복서렬（short tandem repeat ，STR）기인련쇄분석검측SMN1기인，분석부모급환자적유전관계이제고휴대자검출솔。방법수집선증자급가계성원적자료，채용MLPA대선증자급기직계친속SMN1기인적제7외현자급8외현자진행고패수검측，병대기가계진행STR분석。결과학진적2례환인균위SMN1기인제7화8외현자순화결실，모친위휴대자，부친위“2＋0”휴대자，가계2태인위휴대자。결론 MLPA 능검측SMN기인외현자돌변정황，STR련쇄가분석풍험염색체적래원，소이STR련쇄분석능발현MLPA 검측불도적휴대정황。장량충방법결합가이감소대휴대자적오판，위고위태인적수루풍험제공준학유전자순。
Objective To identify survival motor neuron gene by application of multiplex ligation‐dependent probe amplifi‐cation(MLPA)and short tandem repeat(STR) ,analyze the genetic relationship between parents and the fetus to improve the de‐tection rate of carriers.Methods Clinical features of two Chinese families were collected and MLPA was applied to detect the SMN1 gene for identifying the genetic copy of exon 7 and 8. Short tandem repeat was analyzed at the same time.Results Both of probands had deletion of exons 7 and 8 ,his mother had heterozygous deletions of exons7 ,and his father showed a“2+0”gen‐otype ,fetuse of the Family 2 is carrier.Conclusion MLPA can detect mutation in the exons of SMN ,while STR linkage analy‐sis can provide the sources of risk chromosome ,so it can detect the carriers in which no mutation are detected with MLPA. By combining the two methods ,accurate information to high‐risk fetus can be greatly improved of the genetic counseling.