Denaturing high performance liquid chromatography for detection of point mutation of familial ALS
- VernacularTitle:变性高效液相色谱法在FALS突变位点检测中的应用
- Author:
Jun HU
;
Shugui SHI
;
Lusi LI
;
Yuzhang WU
;
Bing NI
- Publication Type:Journal Article
- Keywords:
familial amyotrophic lateral sclerosis;
Cu/Zn superoxide dismutase;
denaturing high performance liquid chromatography;
mutation
- From:Journal of Third Military Medical University
2003;0(13):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the point mutation of Cu/Zn superoxide dismutase(SOD1) gene in an amyotrophic lateral sclerosis(ALS) family and observe the value of denaturing high performance liquid chromatography(DHPLC). Methods DHPLC and DNA sequencing were used to examine SOD1 gene of the ALS family which had not been found mutation by PCR-SSCP. Results DHPLC tests proved double peaks in one member(Ⅲ_1), Which indicated the possibility of mutation in SOD1 exon 4. DNA sequencing revealed that there was a heterozygote,with mutation of GAA to GGA in exon 4, and with a substitution of glutacid by glycine. Conclusion As compared with PCR-SSCP, DHPLC technique has proved to be a rapid and reliable method for screening mutation site in large samples.
