NOTCH3 gene diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- VernacularTitle:伴皮质下梗死及白质脑病常染色体显性遗传性脑动脉病的NOTCH3基因诊断
- Author:
Xiaomei TANG
;
Jingfang YANG
;
Xiuli FENG
- Publication Type:Journal Article
- Keywords:
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;
NOTCH3 gene;
mutation
- From:
Journal of Clinical Neurology
1993;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyse the mutation types of the NOTCH3 gene with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL). Methods Including 4 probands of CADASIL,10 cases of CADASIL and 4 normal members from 3 CADASIL families and 100 healthy controls were recruited. Genomic DNA was extracted from white blood cell. The amplicons were analyzed by the denaturing high-performance liquid chromatography (DHPLC) technique. The positive samples which identified by the DHPLC were sequenced to determine the specific mutation or polymorphism, respectively. Results Three heterozygous missense mutations including Cys90Arg, Arg141Cys, Cys134Tyr located in the exon3 and exon4 were found in the 4 probands and 10 cases of CADASIL among the 3 families. 15 polymorphisms were also found. 2 members individual from family 1 and 2 were found to carry the same pathological mutations as in their proband but without clinical symptoms. They were identified as preclinical patients. Conclusions Mutation detection of NOTCH3 is the molecular genetic mechanical for CADASIL. The exon3 and exon4 are possible hot mutation spots in Chinese patients. The mutation of Cys134Tyr in exon4 is a novel mutation which has not been reported previously in China.
