Parkinson hastalığına neden olan bilinen ve yeni genlerde ilişkili mutasyonların araştırılması
Investigation of related mutations in known and candidate genes causing parkinson's disease
- Tez No: 541214
- Danışmanlar: PROF. DR. ZEHRA OYA UYGUNER, DR. GÜVEN TOKSOY
- Tez Türü: Doktora
- Konular: Genetik, Nöroloji, Genetics, Neurology
- Anahtar Kelimeler: Belirtilmemiş.
- Yıl: 2018
- Dil: Türkçe
- Üniversite: İstanbul Üniversitesi
- Enstitü: Sağlık Bilimleri Enstitüsü
- Ana Bilim Dalı: Genetik Ana Bilim Dalı
- Bilim Dalı: Genetik Bilim Dalı
- Sayfa Sayısı: 134
Özet
TEPGEÇ, F. Parkinson Hastalığına Neden Olan Bilinen Ve Yeni Genlerde İlişkili Mutasyonların Araştırılması. İstanbul Üniversitesi Sağlık Bilimleri Enstitüsü, Genetik ABD. Doktora Tezi. İstanbul. 2018 Parkinson Hastalığı (PH), Alzheimer Hastalığı'ndan (AH) sonra en sık görülen nörodejeneratif hastalık olup juvenil (
Özet (Çeviri)
TEPGEC F. Investigation of Related Mutations in Known and Candidate Genes Causing Parkinson's Disease. Istanbul University, Institute of Health Science, Genetics Department. Doctoral Thesis. Istanbul. 2018. Parkinson's disease (PD) is the most common neurodegenerative disorder after Alzheimer's disease, exhibits as juvenile-PD (50 years). Only 15% present autosomal dominant, recessive and X-linked while the majority occur as a sporadic form. Identifying mutations in disease-associated genes, clearer understanding of the pathological pathways and genotype-phenotype relationships are critical toward better comprehension of PD –and equally– in developing treatment strategies. Clinical heterogeneity and being advanced age disease make the determination of its genetic aetiology very difficult. We examined 63 PD patients for related genes with the end goal of identifying new genes by using whole exome sequencing (WES) in multi-afflicted families with no link to known genes. Gross mutations were studied by MLPA, small mutations with a next generation sequencing (NGS) dementia-gene-panel containing 42 genes, in which 33 are associated with PD. Twelve different mutations (five gross-deletions, one gross-duplication, six small) in four genes were detected in 15 cases. Mutations were detected by MLPA in 12.7% (8/63) and by NGS in 11.1% (7/63). In one case, PARK2 had a large deletion and a point mutation with compound heterozygous form. The mutation range was 50% (1/2) in juvenile-PD cases, 27% (13/48) in early-onset-PD cases, and 7.7% (1/13) in late-onset-PD cases. In three large families-who possessed no known mutation in the examined genes- WES could not be performed due to lack of consent. We hope our results will contribute the development of molecular genetic diagnosis algorithms, learning mutation frequencies of our population and genetic counselling.
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