Application of DHPLC in molecular diagnosis of X-linked adrenoleukodystrophy(report of 12 cases)
- VernacularTitle:DHPLC在X-连锁肾上腺脑白质营养不良分子诊断中的应用(附12例报告)
- Author:
Longfeng KE
;
Zhihong WANG
;
Lianghu HUANG
- Publication Type:Journal Article
- Keywords:
adrenoleukodystrophy;
DHPLC;
ABCD1 gene;
molecular diagnotic techniques
- From:
Medical Journal of Chinese People's Liberation Army
1982;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
T),one dinucleotide deletion(1801-02 del AG) and one base insertion(1125 ins GCCATCG),which resulted in eight missense mutations,two nonsense mutations and two frame shift mutations,namely P534R,G343V,R259W,A141T,R401Q,K276E,Y174C,A314P,S108X,Q177X,fs E471 and fs A247.Conclusion The combined DHPLC and sequencing approach may act as a rapid and efficient method for ABCD1 gene mutation analysis in patients and carriers of X-linked adrenoleukodystrophy families.There exist different ABCD1 gene mutations in different pedigrees,and no obvious correlation between the genotype and phenotype has been found.
