ATM gene mutations in Chinese patients with ataxia telangiectasia.
- Author:
Hong JIANG
1
;
Beisha TANG
;
Zhengmao HU
;
Kun XIA
;
Bo XU
;
Jianguang TANG
;
Lu SHEN
Author Information
- Publication Type:Case Reports
- MeSH: Ataxia Telangiectasia Mutated Proteins; Base Sequence; Cell Cycle Proteins; genetics; Child; China; Codon, Nonsense; DNA Mutational Analysis; DNA-Binding Proteins; genetics; Female; Gene Frequency; Humans; Male; Mutation; Mutation, Missense; Protein-Serine-Threonine Kinases; genetics; Reverse Transcriptase Polymerase Chain Reaction; Spinocerebellar Ataxias; genetics; Tumor Suppressor Proteins; genetics
- From: Chinese Journal of Medical Genetics 2005;22(2):121-124
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).
METHODSMutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.
RESULTSA missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.
CONCLUSIONTotally three novel ATM gene mutations were identified in two Chinese AT patients.
