一例二氢嘧啶酶缺陷症患儿的基因变异分析  

Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency

作　　者：舒剑波[1] 蔡凤英[2] 徐晓薇 张新杰 王学韬 郑洁 张春花 蔡春泉[3] 林书祥[1] 张玉琴[5] Shu Jianbo;Cai Fengying;Xu Xiaowei;Zhang Xinjie;Wang Xuetao;Zheng Jie;Zhang Chunhua;Cai Chunqun;Lin Shuxiang;Zhang Yuqin(Tianjin Pediatric Research Institute,Tianjin Children’s Hospital,Tianjin 300134,China;Department of Physiology,Tianjin Medical College,Tianjin 300222,China;Department of Neurosurgery,Tianjin Children’s Hospital,Tianjin 300134,China;MILS International,Kanazawa,Ishikawa 912-8105,Japan;Department of Neurology,Tianjin Children’s Hospital,Tianjin 300134,China)

机构地区：[1]天津市儿童医院天津市儿科研究所,300134 [2]天津医学高等专科学校生理教研室,300222 [3]天津市儿童医院神经外科,300134 [4]MILS International株式会社,石川县金泽市912-8105,日本 [5]天津市儿童医院神经内科,300134

出　　处：《中华医学遗传学杂志》2020年第11期1241-1243,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81771589);天津市重大疾病防治科技重大专项(18ZXDBSY00170)。

摘　　要：目的对1例二氢嘧啶酶缺陷症患儿进行基因变异分析,探讨其可能的分子遗传学病因。方法收集先证者及其家系成员外周血,提取基因组DNA,应用全外显子测序技术确定致病基因,并用Sanger测序进行验证。结果测序结果显示患儿的DPYS基因存在第5外显子c.905G>A(p.Arg302Gln)纯合变异,父母均为c.905G>A(p.Arg302Gln)杂合变异携带者。结论DPYS基因c.905G>A纯合变异可能是该家系患儿的致病原因,致病变异的检出为家系的遗传咨询和产前诊断提供了依据。Objective To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.Methods Genomic DNA was extracted from peripheral blood samples of the family members.Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.Results The child was found to harbor homozygous c.905G>A(p.Arg302Gln)variants in exon 5 of the DPYS gene,for which her parents were both heterozygous carriers.Conclusion The homozygous c.905G>A(p.Arg302Gln)variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child.Above result has enabled genetic counseling and prenatal diagnosis for this family.

关 键 词：二氢嘧啶酶缺陷症 DPYS基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]