ATM gene mutations in Chinese patients with ataxia telangiectasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 121-124, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-321144
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).</p><p><b>METHODS</b>Mutation 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.</p><p><b>RESULTS</b>A 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.</p><p><b>CONCLUSION</b>Totally three novel ATM gene mutations were identified in two Chinese AT patients.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
China
/
Protein Serine-Threonine Kinases
/
Codon, Nonsense
/
Cell Cycle Proteins
/
Reverse Transcriptase Polymerase Chain Reaction
/
Mutation, Missense
/
Spinocerebellar Ataxias
/
Tumor Suppressor Proteins
Type of study:
Prognostic study
Limits:
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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