CAJ | 학술논문

目的对3例临床诊断为谷氨酸脱氢酶型先天性高胰岛素血症的患儿家系进行遗传学分析并对中国儿童谷氨酸脱氢酶型先天性高胰岛素血症的遗传发病机制进行初步探讨.方法选取3例临床诊断为谷氨酸脱氢酶型先天性高胰岛素血症患儿的家系,应用PCR-DNA直接测序技术对3例患儿家系谷氨酸脱氢酶1基因(glutamate dehydrogenase 1,GLUD1)第6,7,10,11,12外显子区进行测序分析.结果第1例患儿及其父亲GLUD1基因第7外显子区发现了1个R269H杂合突变,遗传方式为常染色体显性遗传.第2例患者GLUD1基因的第11外显子区发现了1个S445L杂合突变,为新生突变.第3例患儿家系GLUD1基因第6,7,10,11,12外显子均未发现突变.结论在某些中国人中,谷氨酸脱氢酶基因R269H,S445L杂合突变可以导致谷氨酸脱氢酶型先天性高胰岛素血症的发生.
목적 대3례림상진단위곡안산탈경매형선천성고이도소혈증적환인가계진행유전학분석병대중국인동곡안산탈경매형선천성고이도소혈증적유전발병궤제진행초보탐토.방법 선취3례림상진단위곡안산탈경매형선천성고이도소혈증환인적가계,응용PCR-DNA직접측서기술대3례환인가계곡안산탈경매1기인(glutamate dehydrogenase 1,GLUD1)제6,7,10,11,12외현자구진행측서분석.결과 제1례환인급기부친GLUD1기인제7외현자구발현료1개R269H잡합돌변,유전방식위상염색체현성유전.제2례환자GLUD1기인적제11외현자구발현료1개S445L잡합돌변,위신생돌변.제3례환인가계GLUD1기인제6,7,10,11,12외현자균미발현돌변.결론 재모사중국인중,곡안산탈경매기인R269H,S445L잡합돌변가이도치곡안산탈경매형선천성고이도소혈증적발생.
Objective To investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI). Methods Three patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of theGLUD1 gene. Results In the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case. Conclusion In Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.