The research of the DNA tip for Autism to analyze the genetic basis

2001 Fiscal Year Final Research Report Summary

• Project/Area Number: 12670752
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tottori University
• Principal Investigator: NANBA Eiji Gene Research Center, Tottori University, Associated Professor, 遺伝子実験施設, 助教授 (40237631)
• Project Period (FY): 2000 – 2001
• Keywords: autism / association study / genome imprinting / serotonin receptor gene / 関連遺伝子解析

Research Abstract

I studied the genetic basis for autism to development of new diagnostic tool using DNA tip.
The conclusions in this study are followings.
1. The relation of HTR1A gene which is a serotonin related gene to autism was suggested.
2. A specific variation of HOX1A gene was detected only in a few patients with autism.
3. I developed a method for find the imprinting gene which is important for molecular mechanism of autism.
4. Several mutations of the patients with tuberous sclerosis which is related to autistic behavior were detected.
5. I developed the method for the association study using single nucleotide polymorphisms and analysis of the gene expression.
The following new projects should be necessary.
1. I need more DNA samples from Japanese patients with autism.
2. I should developed the new method to find the imprinting genes specific for the brain.
3. The functional study of the genes related to autism for developed the new therapeutic method.

Research Products

• [Publications] Maegawa S et al.: "Epigenetic silencing of PEG3 gene expression in human glioma cell lines"Mol Carcinog. 31. 1-9 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Kishimoto T et al.: "Angiotensinogen gene variatiorn and hypertension in a cohort study in Japanese"J Epidemiol. 11. 115-119 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Pipo JR et al.: "Two novel serine repeat length polymorphisms (codon 1043 ins S and SS) at exon 23 of TSC1 gene"Hum Mut. 16. 375 (2000)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Kotani K et al.: "Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm"Int Med. 7. 537-539 (2000)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Kono Y et al.: "The effect of lactational exposure to 1,2,3,4-tetrachlorodibenzo-p-dioxin on cytochrome P-450 1A1 mRNA in the neonatal rat liver"Pediatrics International. 43. 458-464 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Maegawa S, Yoshioka H, Itaba N, Kubota N, Nishihara S, Shirayoshi Y, Nanba E, Oshimura M.: "Epigenetic silencing of PEG3 gene expression in human glioma cell lines"Mol Carcinog. 31. 1-9 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Kishimoto T, Suyama A, Igarashi A, Osaki Y, Okamoto M, Yamamoto T, Nanba E, Kurosawa Y, Fukumoto S.: "Angiotensinogen gene variation and hypertension in a cohort study in Japanese"J Epidemiol. 11. 115-119 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Pipo JR, Yamamoto T, Takeda H, Maegawa S, Nanba E, Ninomiya H, Ohno K, Takeshita K.: "Two novel serine repeat length polymorphisms (codon 1043 ins S and SS) at exon 23 of TSC1 gene"H um Mut. 16. 375 (2000)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Kotani K, Shimomura T, Murakami F, Ikawa S, Kanaoka Y, Ohgi S, Adachi K, Nanba E.: "Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm"Int Med. 7. 537-539 (2000)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Kono Y, Okada S, Tazawa Y, Kanzaki S, Mura T, Ueta E, Nanba E, Otsuka Y.: "The effect of lactational exposure to 1,2,3,4-tetrachlorodibenzo-p-dioxin on cytochrome P-450 1A1 mRNA in the neonatal rat liver : quantitative analysis by the competitive RT-PCR method"Pediatrics International. 43. 458-464 (2001)
  • Description: 「研究成果報告書概要(欧文)」より