[Genetic study of a Parkinson's disease pedigree caused by compound heterozygous mutations in PARK2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(6): 815-818, 2018 Dec 10.
Article
em Zh
| MEDLINE
| ID: mdl-30512153
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Ubiquitina-Proteína Ligases
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2018
Tipo de documento:
Article