A STUDY OF POLYMORPHISM IN THE HUMAN DOPAMlNE D2 AND D4 RECEPTOR GENE AND CLINICAL FEATURE IN AUTISTIC SUBJECTS.

1999 Fiscal Year Final Research Report Summary

• Project/Area Number: 10670890
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: TOKYO UNIVERSITY
• Principal Investigator: HASIMOTO Ohiko TOKYO UNIVERSITY, FACULTY OF MEDICINE, ASSISTANT, 医学部・附属病院, 助手 (90292911)
• Co-Investigator(Kenkyū-buntansha): FUKUDA Masato GUNMA UNIVERSITY, FACULTY OF MEDICINE, ASSISTANT PROFESSOR, 医学部, 助教授 (20221533) ; SOMEYA Riichi TOKYO UNIVERSITY, FACULTY OF MEDICINE, ASSISTANT, 医学部・附属病院, 助手 (30301104) ; KATO Tadafumi TOKYO UNIVERSITY, FACULTY OF MEDICINE, LECTURER, 医学部・附属病院, 講師 (30214381)
• Project Period (FY): 1998 – 1999
• Keywords: AUTISM / DNA / PCR / D2 / D4 / POLYMORPHISM / SYMPTOM EVALUATION

Research Abstract

This study examined the relationship between the polymorphism of receptor gene and the symptom among autism. The subjects are autism who belong to the day center in community. Informed consent was taken under the procedure approved by the ethical committee of medical research in Tokyo University. All subjects were interviewed after the information of research, and diagnosed by DSM-IV. Examined genes were polymorphism of dopamine D4 receptor which is a part of intracellular 3ィイD1rdィエD1 loop and two TaqI digestive alleles (TaqIA, TaqIB) of dopamine D2 receptor. The genomic DNA was extracted from venous blood. Then aimed fragment was amplified by PCR method. A questionnaire for parents about behavioral symptom and evaluation of cognitive development of patients were done. Frequencies of TaqIA was 43% (non-digestive) and 57% (digestive) and TaqIB was 35% (non-digestive) and 65% (digestive). D4 polymorphism frequencies were 13% (two repeats), 1% (three), 84% (four), 3% (five), 0% (six), 0% (seven), which were the almost the same as the frequencies of normal Japanese subjects. There seemed to be no relationships between these polymorphisms and the etiology of autism.