一例经典型半乳糖血症患者的基因变异分析  

Detection of GALT gene mutation in one case with classic galactosemia

作　　者：马盼盼 陈雪[1] 周秉博 张钏[1] 郝胜菊[1] 惠玲 徐福蓉 李莲英[2] MA Panpan;CHEN Xue;ZHOU Bingbo;ZHANG Chuan;HAO Shengju;HUI Ling;XU Furong;LI Lianying(Center for Medical Genetics,Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China;First Obstetrics Department,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心/甘肃省出生缺陷与罕见病临床研究中心,甘肃兰州730050 [2]甘肃省妇幼保健院产一科,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2022年第4期632-636,共5页Chinese Journal of Birth Health & Heredity

基　　金：甘肃省科技计划(21JR7RA680,21JR1RA045);甘肃省卫生行业科研计划项目(GSWSKY2020-39);兰州市人才创新创业项目(2018-RC-95)。

摘　　要：目的对1例Ⅰ型半乳糖血症患者及其家系成员进行致病基因GALT突变检测及结合患者表型进行生物信息学分析。方法采集患者及其父母的外周血,应用高通量测序目标序列捕获技术进行家系全外显子组测序。应用Sanger测序技术对患者及其家系成员可疑致病突变位点进行验证。结果Trio全外显子组测序结果显示,患者的GALT基因变异位点c.829T>C(p.S277P)和c.970C>G(p.P324A)为复合杂合变异,父亲为变异位点c.829T>C(p.S277P)的携带者,母亲为变异位点c.970C>G(p.P324A)的携带者。二者均为错义突变,目前未见文献报道,为未见报道的新突变。结论通过检测1例Ⅰ型半乳糖血症患者及其家系,发现GALT基因2种未见报道的新突变,扩充了GALT基因致病突变谱,为疾病的临床诊断和遗传咨询提供依据。Objective To analyze mutations and clinical phenotypes of GALT gene in one neonate with classic galactosemia. Methods Collect peripheral blood of neonate and her parents. Target sequence capture high-throughput sequencing technology was used to sequence this genealogy with whole exome sequencing. After confirming the pathogenic genotypes of the probands, the Sanger sequencing method was used to verify the results. Results Compound heterozygous mutations of GALT gene c.829T>C(p.S277P) and c.970C>G(p.P324A) were detected in this –genealogy, and respectively from her father and mother. The two novel mutation have not previously been reported. Conclusion Two novel mutations in GALT gene were found in this study, which enriched the spectrum of GALT gene mutations, and provided a basis for clinical diagnosis and genetic counseling of the disease.

关 键 词：半乳糖血症 GALT基因 腹胀 全外显子组测序 生物信息学分析 

分 类 号：R725.8[医药卫生—儿科] R440[医药卫生—临床医学]