Cytogenetic and Molecular Genetic Studies of chromosome 22q11 region in Chinese schizophrenia patients from Taiwan

• Main Authors: Chan-Yen Tasi, 蔡昌晏
• Other Authors: Jye-Siung Fang
• Format: Others
• Language: zh-TW
• Online Access: http://ndltd.ncl.edu.tw/handle/46918271226429652578

碩士 === 慈濟大學 === 人類遺傳學研究所 === 89 === Schizophrenia is a severe and disabled mental illness of variable expression and course. The lifetime prevalence is approximately 1%. The etiology of schizophrenia is unknown. Several studies supported that both genetic and environmental factors play some roles in the etiology of schizophrenia, and there might be more than one gene that contribute to the genetic etiology of schizophrenia. Some chromosome regions are suggested as candidate region for schizophrenia. Chromosome 22q11 is one of these regions. Chromosome 22q11 microdeletion would cause congenital malformation. Approximately 25~30% of the patients of 22q11 microdeletion developed schizophrenia after puberty. Several linkage studies suggested that the gene of schizophrenia might locate in chromosome 22q11 region. To determine the association of 22q11 deletion with schizophrenia in our population, I carried out three genetic studies of 22q11 in our population. In the first study, I used 3 microsatellite DNA markers and FISH analysis to screen 41 trio families of schizophrenia patients and 100 individual cases of schizophrenia to identify 22q11 deletion in schizophrenia. In the second study, I screen ARVCF gene, a schizophrenia candidate gene located in chromosome 22q11 region, by SSCP analysis to identified mutation in 103 schizophrenia patients. In third study, I used above three microsatellite DNA markers and a SNP (single nucleotide polymorphism) marker to proceed TDT (transmission disequilibrium test) analysis among the 41 trio families of schizophrenia. In the first study, I did not identify 22q11 deletion either in the 41 trio families of schizophrenia or in the 100 individual case of schizophrenia. In the second study, I have screened 10 exons among 16 exons of ARVCF gene, and have not yet identified any mutation in these exons. Nevertheless, I identified a SNP in intron 13 (IVS13-21G>A). Futher study shows no association between IVS13-21G>A and schizophrenia. The study of ARVCF is still ongoing. In the third study, we showed evidence of linkage disequilibrium between ARVCF IVS13-21G>A and schizophrenia. The data indicate that chromosome 22q11 might be a schizophrenia susceptible region in Chinese population.