Genetic study of a Parkinson's disease pedigree caused by compound heterozygous mutations in PARK2 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 815-818, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-775830
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree where three siblings were affected with Parkinson's disease.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed to detect the causative mutation. Sanger sequencing of cDNA was also used for verify the effect of mutation on the transcription of RNA.@*RESULTS@#Heterozygous deletion of exon 3 of the PARK2 gene was detected by MLPA, while a heterozygous splice site variant c.619-3G>C was detected by NGS. Both mutations were shown to result in aberrant transcripts of the PARK2 gene (loss of exons 3 and 6, respectively) by Sanger sequencing of cDNA. Both mutations have co-segregated with the disease in the pedigree.@*CONCLUSION@#Compound heterozygous mutations of the PARK2 gene probably underlie the disease in this pedigree. Identification of the splice site variant c.619-3G>C has expanded the mutation spectrum of the PARK2 gene.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parkinson Disease
/
Pedigree
/
DNA Mutational Analysis
/
China
/
Exons
/
Ubiquitin-Protein Ligases
/
Asian People
/
Genetics
/
Heterozygote
/
Mutation
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article
Similar
MEDLINE
...
LILACS
LIS