Identification and analysis of galactose-1-phosphate uridyltransferase gene mutations in children with galactosemia
10.3760/cma.j.issn.2095-428X.2013.08.013
- VernacularTitle:半乳糖血症患儿半乳糖-1-磷酸尿苷酰转移酶基因突变的鉴定与分析
- Author:
Yu-Yang WANG
1
;
Zhe-Wei LIU
;
Hui-Bo CHANG
;
Li-Wen WANG
;
Jian-Xin WU
Author Information
1. 100020,首都儿科研究所附属儿童医院内科
- Keywords:
Galactosemia;
Galactose-l-phosphate uridyltransferase;
Mutations
- From:
Chinese Journal of Applied Clinical Pediatrics
2013;28(8):603-605
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the mutation of galactose-1-phosphate uridyltransferase gene (GALT gene) of galactosemia children by molecular methods.Methods Two children with galactosemia were investigated.The peripheral blood mononuclear cells were separated and total RNA was extracted.Then,whole cDNAs of GALT were amplified by reverse-transcription polymerase chain reaction;The PCR products were subcloned into T-easy vector and the positive clones were selected and sequenced;meanwhile,the PCR products were also digested by restricted enzymes and identified by restriction fragment length polymorphism.Results Two novel mutations were found in 2 children.In one child,A was changed into G in nucleotide 1006 of GALT gene,which led to amino acid residue M336V mutation.In the other child,A in nucleotide 779 of GALT gene was changed into T and led to amino acid residue H260L mutation.The 2 mutations were both missense mutation and heterozygous mutation.Conclusions Gene diagnosis is an useful method to improve the accuracy of galactosemia diagnosis and will provide valuable references for prenatal diagnosis,hematopoietic stem cell transplantation and gene therapy.
