[논문]Long repeat tracts at SCA8 in major psychosis

Vincent, John B.; Yuan, Qiu-Ping; Schalling, Martin; Adolfsson, R; Azevedo, M. Helena; Macedo, Antonio; Bauer, Amy; DallaTorre, Camille; Medeiros, Helena M.; Pato, Michele T.; Pato, Carlos N.; Bowen, Timothy; Guy, Carol A.; Owen, Michael J.; O'Donovan, Michael C.; Paterson, Andrew D.; Petronis, Arturas; Kennedy, James L.

doi:10.1002/1096-8628(20001204)96:6<873::AID-AJMG37>3.0.CO;2-9

[해외논문] Long repeat tracts at SCA8 in major psychosis

American journal of medical genetics, v.96 no.6, 2000년, pp.873 - 876

Vincent, John B. (Neurogenetics Section, Clarke Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada) , Yuan, Qiu-Ping (Neurogenetics Unit, Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden) , Schalling, Martin (Neurogenetics Unit, Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden) , Adolfsson, R (Department of Psychiatry, University of Umeå) , Azevedo, M. Helena (, Umeå) , Macedo, Antonio (, Sweden) , Bauer, Amy (Department of Psychiatry, and Center for Neuroscience, University of Coimbra, Coimbra, Portugal) , DallaTorre, Camille (Department of Psychiatry, and Center for Neuroscience, University of Coimbra, Coimbra, Portugal) , Medeiros, Helena M. (Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York) , Pato, Michele T. (Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York) , Pato, Carlos N. (Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York) , Bowen, Timothy (Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York) , Guy, Carol A. (Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York) , Owen, Michael J. , O'Donovan, Michael C. , Paterson, Andrew D. , Petronis, Arturas , Kennedy, James L.

Abstract ▼ AI-Helper

Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107–127 CTG repeats (or 110–130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873–876, 2000. © 2000 Wiley-Liss, Inc.

주제어

참고문헌 (12)

Mol Psychiatry Bowen 3 266 1998 10.1038/sj.mp.4000400

상세보기
Nat Genet Koob 21 379 1999 10.1038/7710

상세보기
Mol Psychiatry Lindblad 3 405 1998 10.1038/sj.mp.4000416

상세보기
Hum Mol Genet Millar 9 1415 2000 10.1093/hmg/9.9.1415

상세보기
Hum Mol Genet Nemes 9 1543 2000 10.1093/hmg/9.10.1543

상세보기
Pato 2000 2000. Detection of expansion regions in bipolar families. Am J Med Genet (Neuropsychiatr Genet) (in press).
Nat Genet Schalling 4 135 1993 10.1038/ng0693-135

상세보기
Nat Genet Stevanin 24 213 2000 10.1038/73408

상세보기
Am J Hum Genet Vincent 63 a344 1998
Am J Hum Genet Vincent 66 819 2000a 10.1086/302803

상세보기
Am J Med Genet (Semin Med Genet) Vincent 97 77 2000b 10.1002/(SICI)1096-8628(200021)97:1<77::AID-AJMG11>3.0.CO;2-3

상세보기
Nat Genet Worth 24 214 2000 10.1038/73411

상세보기

내보내기 구분	파일저장 인쇄 메일전송
구성항목	기본정보 상세정보 관리번호, 논문명, 저널/프로시딩명, 저자 , 발행년, 권, 호, 시작페이지, 끝페이지, 발행기관 관리번호, 논문명, 대등논문명, 저자 , 저널/프로시딩명, 발행기관, 발행년, 발행언어, 권, 호, 시작페이지, 끝페이지, ISBN, ISSN, 주제분야, 키워드, 초록(한글), 초록(영문), 저자(소속기관)
저장형식	Text(ASCII format) Excel format RefWorks Direct Export RIS format (for Reference Manager, ProCite, EndNote), Scholar's Aids, Mendeley
메일정보	받는사람 (필수) @ 보내는사람 (선택) @ 제목 내용 KISTI 검색결과 이메일 서비스
안내	총 건의 자료가 검색되었습니다. 다운받으실 자료의 인덱스를 입력하세요. (1-10,000) 검색결과의 순서대로 최대 10,000건 까지 다운로드가 가능합니다. 데이타가 많을 경우 속도가 느려질 수 있습니다.(최대 2~3분 소요) 다운로드 파일은 UTF-8 형태로 저장됩니다. 파일의 내용이 제대로 보이지 않을실 때는 웹브라우저 상단의 보기 -> 인코딩 -> 자동선택 여부를 확인하십시오. ~ Text(ASCII format) Excel format

연합인증

[해외논문] Long repeat tracts at SCA8 in major psychosis

Abstract ▼ AI-Helper

주제어

참고문헌 (12)

이 논문을 인용한 문헌

관련 콘텐츠

원문 URL 링크

AI-Helper ※ AI-Helper는 오픈소스 모델을 사용합니다.

선택된 텍스트