Mutational analysis of seven Chinese pedigrees with X-linked adrenoleukodystrophy
- VernacularTitle:7个肾上腺脑白质营养不良家系的基因突变分析
- Author:
Lianghu HUANG
;
Zhihong WANG
;
Bosheng YANG
- Publication Type:Journal Article
- Keywords:
adrenoleukodystrophy;
mutation;
genes, ABCD1
- From:
Medical Journal of Chinese People's Liberation Army
1981;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the mutational genotype in seven Chinese families with X-linked adrenoleukodystrophy (X-ALD). Methods The coding region of ABCD1 gene of seven patients was amplified in 4 segments by PCR after reverse transcription using RT-PCR technology. The PCR products were purified and directly sequenced. To confirm the mutations, the genomic DNA was analyzed by PCR-restrictive digestion or direct sequencing of purified PCR products. Results Six base substitutions (709CA, 807GA, 1161CT, 2065CT, 2113TC and 2235CT), one base deletion (1801delAG) and one base insertion (1126 ins GCCATCG) were identified in seven X-linked adrenoleukodystrophy pedigrees, resulting in five missense mutations (A141T, R259W, P560L, L576P and R617C), two frame shift mutations (fs I246 and fs E471) and one nonsense mutation (S108X), respectively. Conclusion Four novel ABCD1 mutations, namely S108X, fs I246, R259W and L576P, were detected in Chinese X-linked adenoleukodystrophy patients. There was different ABCD1 gene mutation in different pedigree and no obvious correlation between the type of mutation and phenotype was found.
