CAJ | 학술논문

目的：对一例层黏连蛋白α2缺失型先天性肌营养不良（ MDC1A）患儿LAMA2基因突变（ c．7147C＞T/p．Arg2383X、c．6513＿6515delTGT/p．2172delVal）进行报道和分析。方法提取一例MDC1A患儿与其父母的外周血DNA，PCR扩增LAMA2基因的全部65个外显子，以琼脂糖凝胶电泳鉴定PCR产物，PCR产物纯化后进行直接基因测序。结果检测到先证者LAMA2基因的多种突变，其中c．7147 C＞T（杂合）为无义突变（p．Arg2383X）；另一个突变c．6513＿6515delTGT（杂合）引起编码产物缺失单个氨基酸残基（p．2172delVal），其余突变均发生于多态性位点或内含子区，仅有较小可能影响LAMA2基因的功能。先证者母亲被检出携带了c．6513＿6515delTGT杂合突变；父亲被检出携带了c．7147C＞T杂合突变。结论先证者一个LAMA2等位基因发生c．7147 C＞T杂合突变，另一个等位基因发生c．6513＿6515 delTGT杂合突变，两个突变位点均位于编码蛋白laminin-2的G区域，突变导致G区域功能丧失，引起MDC1A的表现型。
목적：대일례층점련단백α2결실형선천성기영양불량（ MDC1A）환인LAMA2기인돌변（ c．7147C＞T/p．Arg2383X、c．6513＿6515delTGT/p．2172delVal）진행보도화분석。방법제취일례MDC1A환인여기부모적외주혈DNA，PCR확증LAMA2기인적전부65개외현자，이경지당응효전영감정PCR산물，PCR산물순화후진행직접기인측서。결과검측도선증자LAMA2기인적다충돌변，기중c．7147 C＞T（잡합）위무의돌변（p．Arg2383X）；령일개돌변c．6513＿6515delTGT（잡합）인기편마산물결실단개안기산잔기（p．2172delVal），기여돌변균발생우다태성위점혹내함자구，부유교소가능영향LAMA2기인적공능。선증자모친피검출휴대료c．6513＿6515delTGT잡합돌변；부친피검출휴대료c．7147C＞T잡합돌변。결론선증자일개LAMA2등위기인발생c．7147 C＞T잡합돌변，령일개등위기인발생c．6513＿6515 delTGT잡합돌변，량개돌변위점균위우편마단백laminin-2적G구역，돌변도치G구역공능상실，인기MDC1A적표현형。
Objective To report a LAMA2 gene mutation ( c.7147C >T/p.Arg2383X, c.6513_6515delTGT/p.2172delVal)in a patient of merosin-deficient congenital muscular dystrophy type 1A(MDC1A). Methods Extract DNA in the peripheral blood of a MDC 1A patient and her parents ,PCR was used to duplicate all the 65 exons of LAMA2 gene,Agarose gel electrophoresis (AGE) was used to identify the product of PCR,after purification,the product of PCR was sequenced rightly .Results Many mutations of LAMA2 gene were identified in the proband,among them,c.7147 C>T(heterozygosis) was a nonsense mutation(p.A rg2383X).Another mutation c.6513 _6515delTGT(heterozygosis) result in lost of a single amino acid residues (p.2172delVal),the other mutations all occurred in the polymorphic site or intron area ,only have a small possibility to influence the function of LAMA2 gene.The father of proband is identified mutation c.7147 C >T(heterozygosis),mother was identified mutation c .6513 _6515 delTGT ( heterozygosis ) .Conclusions One allele of the proband is identified mutation c . 7147 C>T ( heterozygosis ) , the other allele is identified mutation c .6513 _6515 delTGT ( heterozygosis ) , both the mutations occurred in the area of G function area of the encoding protein laminin-2, result in the phenotype of congenital muscular dystrophy .