dna sequencing sequencher heterozygous mutations

Written informed consent was obtained from all participants according to the declaration of Helsinki. Twenty sporadic Parkinson’s disease patients and 50 healthy controls from the same village and a larger cohort with 600 Greek patients and 600 controls were subsequently included in the study for mutation screening. 5 All family members that have been tested carried the APOE E3/E3 genotype, thus reducing the possibility of other known genetic factors contributing to the risk of AD. 4 Intronic hexanucleotide repeat expansion in C9ORF72 was also excluded. Possible pathogenic structural variants affecting SNCA, PRKN, PINK1, or DJ1 genes had been excluded with MLPA analysis. All cases had extensive genetic, metabolic, and imaging investigations carried out that excluded acquired and other inherited causes of PD or dementia. Detailed phenotypic characterization is presented in Table 1. DNA and clinical data were available for eight individuals (Figure 1). Methods SamplesĪ large pedigree with seven affected individuals over three consecutive generations presenting with PD and/or dementia of mixed type, and originating from the village of Rapsani, Greece was included in the study. In this study, we performed whole exome sequencing (WES) and linkage analysis in a three generational family of Greek origin in which affected members presented initially with parkinsonism or dementia. 2 The genetic overlap of AD and PD has also been previously studied and potential common single nucleotide polymorphisms (SNPs) associated with both conditions have been identified within MAPT and human leukocyte antigen gene regions. 1 To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been identified. Approximately 10% of patients with PD and 1% of patients with AD have a monogenic cause. Parkinson’s disease (PD) and Alzheimer’s disease (AD) are the most common neurodegenerative disorders.

Dna sequencing sequencher heterozygous mutations