新生儿瓜氨酸血症ASSl基因错义突变（c．970G〉A）的分子鉴定  

ASSI mutation leading to citrullinemia I in a Chinese Han family

作　　者：胡平[1] 周小燕[1] 马定远[1] 孙云[1] 张晓娟[1] 韩树萍[1] 余章斌[1] 蒋涛[1] 陈玉林[1] 许争峰[1] 

机构地区：[1]南京医科大学附属南京妇幼保健院,210004

出　　处：《中华医学遗传学杂志》2011年第6期630-633,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30872782）;江苏省卫生厅医学科研项目（H201068）;江苏省自然科学基金（BK2008077）;南京市科技局基金（200801094）;南京医科大学科技发展基金（09NJMUZ43）

摘　　要：目的对1个瓜氨酸血症家系进行分子遗传学检测，以确诊其病因。方法抽取患儿及其父母外周血并提取基因组DNA，应用直接测序法对患儿ASSl基因14个外显子的PCR扩增产物进行DNA测序检测。结果患儿ASSl基因第13外显子发生纯合错义突变C．970G〉A，使第324位密码子由GGT突变为AGT，使甘氨酸替换为丝氨酸，即P．G324S，测序结果显示在该位点其父母均为杂合突变。结论C．970G〉A纯合突变是该患儿的患病原因，父母均为该突变的携带者。Objective To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I . Methods Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing. Results A homozygous missense mutation of c. 970G〉A located in exon 13, which results in p. G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation. Conclusion A missense mutation of c. 970G〉A in theASS1 gene is responsible for the pathogenesis of the disease in the infant.

关 键 词：瓜氨酸血症 新生儿 ASS1基因 突变 

分 类 号：R722.1[医药卫生—儿科]