A Simplified Approach for Detecting Homologous Deletion of SMN1 Genes in Spinal Muacular Atrophy
- VernacularTitle:一种简化的检测SMN1基因纯合性缺失的方法
- Author:
Xiaoqiao LI
;
Fengxia YAO
;
Liang SU
;
Juanjuan HAN
;
Yan MENG
;
Zheng WANG
;
Yuanyuan PENG
;
Yan DIAN
;
Qing ZHOU
;
Shangzhi HUANG
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy;
Allele specific-polymerase chain reaction;
Survival motor neurons;
Polyacrylamide gel electrophoresis;
Agarose gel electrophoresis
- From:
Journal of Medical Research
2006;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To develop a rapid,reliable and convenient approach for diagnosing the homozygous deletion of SMN1 gene.Methods SMN1 gene was amplified specifically with double allele-specific PCR(AS-PCR).Meanwhile,one inrelevant gene was amplified as internal control by PAGE and agarose gel electrophoresis analysis to determine whether the sick children were with homozygous deletion of SMN1 genes.Results The homozygous deletion of exon7 in SMN1 gene was identified by agarose gel electrophoresis or PAGE accurately.Conclusion Compared to PCR-RFLP and DHPLC used in the past,this approach can diagnose homozygous deletion of SMA much more accurate,easier and more convenient without completed following analyses.
