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目的分析一个中国汉族发作性运动诱发性运动障碍(Paroxysmal kinesigenic dyskinesia,PKD)伴婴儿惊厥家系的富脯氨酸跨膜蛋白2(Proline-rich transmembrane protein 2,PRRT2)基因突变及该病的临床特点。方法收集1个临床诊断为PKD伴婴儿惊厥的家系,同时选取30例健康对照作为研究对象。抽取研究对象外周血基因组DNA,行PRRT2基因测序,将测序结果在BLAST比对分析。结果研究发现该家系中4例患者均检测出PRRT2基因第2号外显子发生杂合突变412 C>G(Pro138Ala),使编码的脯氨酸(Proine)变成丙氨酸(Valine);4例患者中均检测出PRRT2基因第3号外显子发生杂合突变917 C>A(Ala306Asp),使编码的丙氨酸(Valine)变成天冬氨酸(Aspartic acid),其他家系成员和30例正常对照均未发现这两个基因突变位点。结论 PRRT2基因的917 C>A(Ala306Asp)突变可能是PKD伴婴儿惊厥的致病原因。
Objective To analyze the gene mutation of Proline-rich transmembrane protein 2 (PRRT2) in a Chinese Han pedigree with paroxysmal kinesigenic dyskinesia (PKD) and infants with convulsive pedigree and the clinical features of the disease . Methods A pedigree with PKD and infantile convulsions was collected and 30 healthy controls were selected as research subjects. The peripheral blood genomic DNA was extracted from the subjects and the PRRT2 gene was sequenced. The sequencing results were analyzed by BLAST. Results The study found that in all 4 families of the pedigree, heterozygous mutation 412 C> G (Pro138Ala) of exon 2 of PRRT2 gene was detected, and the gene encoding Proine was changed into Valine. 4 In all cases, a heterozygous mutation 917 C> A (Ala306Asp) was detected in exon 3 of PRRT2 gene, and the encoded alanine was changed to aspartic acid. Other family members and 30 The normal control did not find these two gene mutation sites. Conclusion The 917 C> A (Ala306Asp) mutation of PRRT2 gene may be the causative agent of PKD with convulsion in infants.