A Genomic Screen of Autism: Evidence for a Multilocus Etiology

The American Journal of Human Genetics - Tập 65 Số 2 - Trang 493-507 - 1999
Neil Risch1, Donna Spiker2, Linda Lotspeich2, Nassim Nouri1, David A. Hinds1, Joachim Hallmayer3, Luba Kalaydjieva4, Patty McCague2, Sue Dimiceli2, Tawna Pitts1, Loan Nguyen1, Joan Yang1, Courtney A Harper1, Danielle Thorpe2, Saritha Vermeer2, Helena E Young2, J M Hebert1, Alice Lin1, J. E. FERGUSON2, Carla Chiotti2, Susan Wiese‐Slater2, Tamara Rogers4, Boyd Salmon4, Peter Nicholas5, P. Brent Petersen5, Carmen Pingree5, William M. McMahon5, Dona L. Wong2, Luigi Luca Cavalli-Sforza1, Helena Chmura Kraemer2, Inez Myin‐Germeys1
1Department of Genetics, Stanford University School of Medicine, Stanford
2Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford
3Centre for Clinical Research in Neuropsychiatry, Graylands Hospital/University of Western Australia, Perth
4Centre for Human Genetics, Edith Cowan University, Perth
5Department of Psychiatry, University of Utah, Salt Lake City

Tóm tắt

Từ khóa


Tài liệu tham khảo

Anderson, 1984, Use of cyclosporin A in establishing Epstein-Barr virus-transformed lymphoblastoid cell lines, In Vitro, 11, 856, 10.1007/BF02619631

Bailey, 1995, Autism as a strongly genetic disorder: evidence from a British twin study, Psychol Med, 25, 63, 10.1017/S0033291700028099

Bailey, 1998, Autism: the phenotype in relatives, J Autism Dev Disord, 28, 369, 10.1023/A:1026048320785

Bolton, 1994, A case-control family history study of autism, J Child Psychol Psychiatry, 35, 877, 10.1111/j.1469-7610.1994.tb02300.x

Cook, 1997, Autism or atypical autism in maternally but not paternally derived proximal 15q duplication, Am J Hum Genet, 60, 928

Feinstein, 1998, Autism: the point of view from fragile X studies, J Autism Dev Disord, 28, 393, 10.1023/A:1026000404855

Folstein, 1977, Infantile autism: a genetic study of 21 twin pairs, J Child Psychol Psychiatry, 18, 297, 10.1111/j.1469-7610.1977.tb00443.x

Gillberg, 1998, Chromosomal disorders and autism, J Autism Dev Disord, 28, 415, 10.1023/A:1026004505764

Gillberg, 1991, Autism associated with marker chromosome, J Am Acad Child Adolesc Psychiatry, 30, 489, 10.1097/00004583-199105000-00022

Hallmayer, 1996, Autism and the X chromosome, Arch Gen Psychiatry, 53, 985

Hanson, 1976, The genetics, if any, of infantile autism and childhood schizophrenia, J Autism Child Schizophr, 6, 209, 10.1007/BF01543463

Hauser, 1996, Affected sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations, Genet Epidemiol, 13, 117, 10.1002/(SICI)1098-2272(1996)13:2<117::AID-GEPI1>3.0.CO;2-5

International Molecular Genetic Study of Autism Consortium, 1998, A full genome screen for autism with evidence of linkage to a region of chromosome 7q, Hum Mol Genet, 7, 571, 10.1093/hmg/7.3.571

Jorde, 1991, Complex segregation analysis of autism, Am J Hum Genet, 49, 932

Jorde, 1990, The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation, Am J Med Genet, 36, 85, 10.1002/ajmg.1320360116

Kanner, 1943, Autistic disturbances of affective contact, Nerv Child, 2, 217

Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat Genet, 11, 241, 10.1038/ng1195-241

Lazzeroni, 1998, A conditional inference framework for extending the transmission/disequilibrium test, Hum Hered, 48, 67, 10.1159/000022784

Le Couteur, 1989, Autism Diagnostic Interview: a standarized investigator-based instrument, J Autism Dev Disord, 19, 363, 10.1007/BF02212936

Lord, 1997, Diagnosing autism: analyses of data from the Autism Diagnostic Interview, J Autism Dev Disord, 27, 501, 10.1023/A:1025873925661

Lord, 1989, Autism diagnostic observation schedule: a standardized observation of communicative and social behavior, J Autism Dev Disord, 19, 185, 10.1007/BF02211841

Lord, 1994, Autism Diagnostic Interview—Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, J Autism Dev Disord, 24, 659, 10.1007/BF02172145

Martin, 1997, Tests for linkage and association in nuclear families, Am J Hum Genet, 61, 439, 10.1086/514860

Pericak-Vance, 1997, Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT), Am J Hum Genet Suppl, 61, A40

Pickles, 1995, Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism, Am J Hum Genet, 57, 717

Risch, 1990, Linkage strategies for genetically complex diseases. I. Multilocus models, Am J Hum Genet, 46, 222

Rogers T, Kalaydjieva L, Hallmayer J, Petersen PB, Nicholas P, Pingree C, McMahon W, et al. Exclusion of linkage to the HLA region in ninety multiplex sibships with autism. J Autism Dev Disord (in press)

Salmon B, Rogers T, Kalaydjieva L, Hallmayer J, Petersen PB, Nicholas P, Pingree C, et al. Absence of linkage to chromosome 15q11-q13 markers in ninety multiplex families with autism. Am J Med Genet (in press)

Smalley, 1998, Autism and tuberous sclerosis, J Autism Dev Disord, 28, 407, 10.1023/A:1026052421693

Smalley, 1988, Autism and genetics: a decade of research, Arch Gen Psychiatry, 45, 953, 10.1001/archpsyc.1988.01800340081013

Spence, 1985, Gene mapping studies with the syndrome of autism, Behav Genet, 15, 1, 10.1007/BF01071928

Spielman, 1993, Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM), Am J Hum Genet, 52, 506

Spiker, 1994, The genetics of autism: characteristics of affected and unaffected children from 37 multiplex families, Am J Med Genet, 54, 27, 10.1002/ajmg.1320540107

Steffenburg, 1989, A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden, J Child Psychol Psychiatry, 30, 405, 10.1111/j.1469-7610.1989.tb00254.x

Szatmari, 1998, Genetics of autism: overview and new directions, J Autism Dev Disord, 28, 351, 10.1023/A:1026096203946

Vieland, 1998, Results of a genomic screen for autism include strong evidence of linkage to chromosome 13, Am J Hum Genet Suppl, 63, A16