Mutation Site of Cu/Zn superoxide dismutase in an amyotrophic lateral sclerosis family
- VernacularTitle:肌萎缩侧索硬化症家系铜锌超氧化物歧化酶基因突变位点的检测
- Author:
Jun HU
;
Shugui SHI
;
Lusi LI
;
Yuzhang WU
;
Bing NI
- Publication Type:Journal Article
- Keywords:
Amyotrophic lateral sclerosis;
Cu/Zn superoxide dismutase;
Denaturing high performance liquid chromatography;
Single strand conformation polymorphism
- From:
Journal of Medical Postgraduates
2003;0(11):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To identify the mutation points of Cu/Zn superoxide dismutase(SOD1) gene in an amyotrophic lateral sclerosis(ALS) family with a unique phenotype,and to compare the value of single strand conformation polymorphism(SSCP) and denaturing high performance liquid chromatography(DHPLC). Methods: Five exons of SOD1 gene were amplified by PCR. The difference of these products were analyzed by PCR-SSCP and DHPLC.DNA sequencing was used to examine the mutation. Results: ①Mutations were found in exons 2 and 5 in several family members.DNA sequencing revealed that a base pair insertion occurred in the codon area of exon 2 and in the non-codon area of exon 5.②The results of DHPLC tests proved double peaks in one member with ALS symptoms(Ⅲ1),which indicated the possibility of mutation in SOD1 exon 4.DNA sequencing revealed that there was a heterozygote,with a mutation of GAA to GGA in exon 4 in the member with double peak. Conclusion: ①The mutations in exons 2,4,5 were proved.Insertion of exon 2 may be responsible for the disease of the ALS family in Chongqing.②Compared with PCR-SSCP,DHPLC technique has been proven to be a rapid and reliable method for screening mutation site in large samples.
