A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p

The American Journal of Human Genetics - Tập 69 - Trang 570-581 - 2001

Tài liệu tham khảo

Ashley-Koch, 2000, Examination of epigentic factors and gene-gene interaction influencing genetic susceptibility at chromosome 7 and 15 for autistic disorder, Am J Hum Genet Suppl, 67, A46 Ashley-Koch, 1999, Genetic studies of autistic disorder and chromosome 7, Genomics, 61, 227, 10.1006/geno.1999.5968 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 Bass, 2000, Genetic studies in autistic disorder and chromosome 15, Neurogenetics, 2, 219, 10.1007/s100489900081 Blagitko, 1999, gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome, Hum Mol Genet, 8, 2387, 10.1093/hmg/8.13.2387 Burn, 1996, Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3, Genome Res, 6, 525, 10.1101/gr.6.6.525 Buxbaum, 2001, Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity, Am J Hum Genet, 68, 1514, 10.1086/320588 Cook, 1998, Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers, Am J Hum Genet, 62, 1077, 10.1086/301832 Cook, 1997, Evidence of linkage between the serotonin transporter and autistic disorder, Mol Psychiatry, 2, 247, 10.1038/sj.mp.4000266 Cox, 1999, Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans, Nat Genet, 21, 213, 10.1038/6002 Dib, 1996, A comprehensive genetic map of the human genome based on 5,264 microsatellites [see comments], Nature, 380, 152, 10.1038/380152a0 Douglas, 2000, A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data, Am J Hum Genet, 66, 1287, 10.1086/302861 Dunn, 1997 Dunn, 1982 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 Fombonne, 1999, The epidemiology of autism: a review, Psychol Med, 29, 769, 10.1017/S0033291799008508 Gilbert, 2000, Physical and cDNA mapping in the DBH region of human chromosome 9q34, Hum Hered, 50, 151, 10.1159/000022905 Gillberg, 1998, Chromosomal disorders and autism, J Autism Dev Disord, 28, 415, 10.1023/A:1026004505764 Greenwood, 2000, The impact of transmission-ratio distortion on allele sharing in affected sibling pairs, Am J Hum Genet, 66, 2001, 10.1086/302918 Hallmayer, 1996, Autism and the X chromosome: multipoint sib-pair analysis, Arch Gen Psychiatry, 53, 985, 10.1001/archpsyc.1996.01830110021003 Hallmayer, 1994, Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families, Am J Hum Genet, 55, 951 Hayashida, 2000, Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32, Genomics, 66, 221, 10.1006/geno.2000.6206 Holmans, 1993, Asymptotic properties of affected-sib-pair linkage analysis, Am J Hum Genet, 52, 362 Holmans, 1995, Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers, Am J Hum Genet, 57, 1221 IMGSAC (International Molecular Genetic Study of Autism Consortium), 1998, A full genome screen for autism with evidence for linkage to a region on chromosome 7q, Hum Mol Genet, 7, 571, 10.1093/hmg/7.3.571 IMGSAC (International Molecular Genetic Study of Autism Consortium), 2001, Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q, Hum Mol Genet, 10, 973, 10.1093/hmg/10.9.973 Klauck, 1997, Serotonin transporter (5-HTT) gene variants associated with autism?, Hum Mol Genet, 6, 2233, 10.1093/hmg/6.13.2233 Kwiatkowski, 1992, Construction of a GT polymorphism map of human 9q, Genomics, 12, 229, 10.1016/0888-7543(92)90370-8 Lai, 2000, The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder, Am J Hum Genet, 67, 357, 10.1086/303011 Lamb, 2000, Autism: recent molecular genetic advances, Hum Mol Genet, 9, 861, 10.1093/hmg/9.6.861 Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat Genet, 11, 241, 10.1038/ng1195-241 Lathrop, 1983, Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping, Am J Hum Genet, 35, 241 Lim, 1992, Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence, Biochem J, 287, 415, 10.1042/bj2870415 Lord, 2000, The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism, J Autism Dev Disord, 30, 205, 10.1023/A:1005592401947 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 Maestrini, 1999, Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSAC families, Am J Med Genet, 88, 492, 10.1002/(SICI)1096-8628(19991015)88:5<492::AID-AJMG11>3.0.CO;2-X Martin, 2000, Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder, Am J Med Genet, 96, 43, 10.1002/(SICI)1096-8628(20000207)96:1<43::AID-AJMG9>3.0.CO;2-3 Mbarek, 1999, Association study of the NF1 gene and autistic disorder, Am J Med Genet, 88, 729, 10.1002/(SICI)1096-8628(19991215)88:6<729::AID-AJMG26>3.0.CO;2-Q Mukhopadhyay, 1999, Mega2, a data-handling program for facilitating genetic linkage and association analyses, Am J Hum Genet Suppl, 65, A436 Mullen, 1995 Murray, 1994, A comprehensive human linkage map with centimorgan density, Science, 265, 2049, 10.1126/science.8091227 Murrell, 1995, A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig, Genomics, 25, 59, 10.1016/0888-7543(95)80109-Y Paterson, 1999, Transmission ratio distortion in females on chromosome 10p11-p15, Am J Med Genet, 88, 657, 10.1002/(SICI)1096-8628(19991215)88:6<657::AID-AJMG15>3.0.CO;2-# Persico, 2001, Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder, Mol Psychiatr, 6, 150, 10.1038/sj.mp.4000850 Persico, 2000, Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples, Am J Med Genet, 96, 123, 10.1002/(SICI)1096-8628(20000207)96:1<123::AID-AJMG24>3.0.CO;2-N Philippe, 1999, Genome-wide scan for autism susceptibility genes, Hum Mol Genet, 8, 805, 10.1093/hmg/8.5.805 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 Pickles, 2000, Variable expression of the autism broader phenotype: findings from extended pedigrees, J Child Psychol Psychiatry, 41, 491, 10.1111/1469-7610.00634 Raven, 1989 Reed, 1994, Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping [see comments], Nat Genet, 7, 390, 10.1038/ng0794-390 Risch, 1999, A genomic screen of autism: evidence for a multilocus etiology, Am J Hum Genet, 65, 493, 10.1086/302497 Roberts, 1999, Replication of linkage studies of complex traits: an examination of variation in location estimates, Am J Hum Genet, 65, 876, 10.1086/302528 Rohm, 2000, Plexin/neuropilin complexes mediate repulsion by the axonal guidance signal semaphorin 3A, Mech Dev, 93, 95, 10.1016/S0925-4773(00)00269-0 Sakimura, 1995, Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit, Nature, 373, 151, 10.1038/373151a0 Salmon, 1999, Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism, Am J Med Genet, 88, 551, 10.1002/(SICI)1096-8628(19991015)88:5<551::AID-AJMG21>3.0.CO;2-# Skuse, 2000, Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism, Pediatr Res, 47, 9, 10.1203/00006450-200001000-00006 Smalley, 1998, Autism and tuberous sclerosis, J Autism Dev Disord, 28, 407, 10.1023/A:1026052421693 Sparrow, 1984 Spielman, 1993, Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM), Am J Hum Genet, 52, 506 Steffenburg, 1991, Neuropsychiatric assessment of children with autism: a population-based study, Dev Med Child Neurol, 33, 495, 10.1111/j.1469-8749.1991.tb14915.x Sutcliffe, 2000, Linkage disequilibrium in autism families to markers in the 15q-q13 autism candidate region, Am J Hum Genet Suppl, 67, 46 Szatmari, 1998, Genetics of autism: overview and new directions, J Autism Dev Disord, 28, 351, 10.1023/A:1026096203946 Turner, 2000, Genetic clues to the biological basis of autism, Mol Med Today, 6, 238, 10.1016/S1357-4310(00)01712-3 Van Raay, 1997, The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3, Genomics, 41, 279, 10.1006/geno.1997.4659 Veenstra-VanderWeele, 1999, Mutation screening of the UBE3A/E6-AP gene in autistic disorder, Mol Psychiatry, 4, 64, 10.1038/sj.mp.4000472 Vicente, 2000, Genetic variation of serotonin system genes in a sample of autistic families from Portugal, Am J Hum Genet Suppl, 67, 303 Weeks, 1995, Polygenic disease: methods for mapping complex disease traits, Trends Genet, 11, 513, 10.1016/S0168-9525(00)89163-5 Zerucha, 2000, A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain, J Neurosci, 20, 709, 10.1523/JNEUROSCI.20-02-00709.2000 Zhang, 2000, The Reln gene as a candidate locus for autism spectrum disorders, Am J Hum Genet Suppl, 67, 359 Zhong, 1999, 5-HTTLPR variants not associated with autistic spectrum disorders, Neurogenetics, 2, 129, 10.1007/s100480050064