Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 776-779, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-287991
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.</p><p><b>METHODS</b>The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.</p><p><b>RESULTS</b>Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.</p><p><b>CONCLUSION</b>Expanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parkinson Disease
/
Pathology
/
Pedigree
/
Base Sequence
/
Polymerase Chain Reaction
/
Family Health
/
Sequence Analysis, DNA
/
Trinucleotide Repeat Expansion
/
Genetic Predisposition to Disease
/
Ataxin-2
Limits:
Aged
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
Similar
MEDLINE
...
LILACS
LIS