Genetic studies of stuttering in a founder population

Journal of Fluency Disorders - Tập 32 - Trang 33-50 - 2007
Jacqueline K. Wittke-Thompson1, Nicoline Ambrose2, Ehud Yairi2, Cheryl Roe3, Edwin H. Cook4, Carole Ober1, Nancy J. Cox1,3
1Department of Human Genetics, The University of Chicago, Chicago, IL 60637, United States
2Department of Speech and Hearing Science, University of Illinois Urbana-Champaign, Champaign, IL 61820, United States
3Department of Medicine, The University of Chicago, Chicago, IL 60637, United States
4Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60612, United States

Tài liệu tham khảo

Abney, 2000, Estimation of variance components of quantitative traits in inbred populations, American Journal of Human Genetics, 66, 629, 10.1086/302759 Agarwala, 1998, Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County, Genome Research, 8, 211, 10.1101/gr.8.3.211 Ambrose, 1997, The genetic basis of persistence and recovery in stuttering, Journal of Speech Language and Hearing Research, 40, 567, 10.1044/jslhr.4003.567 Ambrose, 1993, Genetic aspects of early childhood stuttering, Journal of Speech and Hearing Research, 36, 701, 10.1044/jshr.3604.701 Andrews, 1964 Andrews, 1991, Genetic factors in stuttering confirmed, Archives of General Psychiatry, 48, 1034, 10.1001/archpsyc.1991.01810350074012 Bartlett, 2004, Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment, Human Heredity, 57, 10, 10.1159/000077385 Bartlett, 2002, A major susceptibility locus for specific language impairment is located on 13q21, American Journal of Human Genetics, 71, 45, 10.1086/341095 Bloodstein, 1995 Botstein, 2003, Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease, Nature Genetics, 33, 228, 10.1038/ng1090 Bourgain, 2004, Testing for Hardy-Weinberg equilibrium in samples with related individuals, Genetics, 168, 2349, 10.1534/genetics.104.031617 Bourgain, 2003, Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus, American Journal of Human Genetics, 73, 612, 10.1086/378208 Buchel, 2004, What causes stuttering?, PLoS Biology, 2, E46, 10.1371/journal.pbio.0020046 Buxbaum, 2001, Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity, American Journal of Human Genetics, 68, 1514, 10.1086/320588 Conture, 1991, Young stutterers’ nonspeech behaviors during stuttering, Journal of Speech and Hearing Research, 34, 1041, 10.1044/jshr.3405.1041 Craig, 2002, Epidemiology of stuttering in the community across the entire life span, Journal of Speech Language and Hearing Research, 45, 1097, 10.1044/1092-4388(2002/088) DeLisi, 2001, Speech disorder in schizophrenia: Review of the literature and exploration of its relation to the uniquely human capacity for language, Schizophrenia Bulletin, 27, 481, 10.1093/oxfordjournals.schbul.a006889 Enard, 2002, Molecular evolution of FOXP2, a gene involved in speech and language, Nature, 418, 869, 10.1038/nature01025 Felsenfeld, 2002, Finding susceptibility genes for developmental disorders of speech: The long and winding road, Journal of Communication Disorders, 35, 329, 10.1016/S0021-9924(02)00088-6 Felsenfeld, 2000, A study of the genetic and environmental etiology of stuttering in a selected twin sample, Behavioral Genetics, 30, 359, 10.1023/A:1002765620208 Gabriel, 2002, The structure of haplotype blocks in the human genome, Science, 296, 2225, 10.1126/science.1069424 Genin, 2002, Properties of the transmission-disequilibrium test in the presence of inbreeding, Genetic Epidemiology, 22, 116, 10.1002/gepi.0174 Hallgren, 1950, Specific dyslexia (congenital word-blindness); a clinical and genetic study, Acta Psychiatrica et Neurologica Supplementum, 65, 1 Horvath, 2001, The family based association test method: Strategies for studying general genotype-phenotype associations, European Journal of Human Genetics, 9, 301, 10.1038/sj.ejhg.5200625 Howie, 1981, Concordance for stuttering in monozygotic and dizygotic twin pairs, Journal of Speech and Hearing Research, 24, 317, 10.1044/jshr.2403.317 Kaminen, 2003, A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32, Journal of Medical Genetics, 40, 340, 10.1136/jmg.40.5.340 Kidd, 1977, A genetic perspective on stuttering, Journal of Fluency Disorders, 2, 259, 10.1016/0094-730X(77)90030-4 Kidd, 1978, The possible causes of the sex ratio in stuttering and its implications, Journal of Fluency Disorders, 3, 13, 10.1016/0094-730X(78)90003-7 Kidd, K. K., Heimbuch, R. C., & Records, M. A. (1981). Vertical transmission of susceptibility to stuttering with sex-modified expression. Proceedings of the National Academy of Sciences U S A, 78, 606–610. Kloth, 1995, Speech-motor and linguistic skills of young suttterers prior to onset, Journal of Fluency Disorders, 20, 157, 10.1016/0094-730X(94)00022-L Kruglyak, 1999, Prospects for whole-genome linkage disequilibrium mapping of common disease genes, Nature Genetics, 22, 139, 10.1038/9642 Kruglyak, 1996, Parametric and nonparametric linkage analysis: A unified multipoint approach, American Journal of Human Genetics, 58, 1347 Lai, 2000, The SPCH1 region on human 7q31: Genomic characterization of the critical interval and localization of translocations associated with speech and language disorder, American Journal of Human Genetics, 67, 357, 10.1086/303011 Lai, 2001, A forkhead-domain gene is mutated in a severe speech and language disorder, Nature, 413, 519, 10.1038/35097076 Lander, 1995, Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results, Nature Genetics, 11, 241, 10.1038/ng1195-241 Lander, 1994, Genetic dissection of complex traits, Science, 265, 2037, 10.1126/science.8091226 Lange, 2004, Powerful allele sharing statistics for nonparametric linkage analysis, Human Heredity, 57, 49, 10.1159/000077389 Levinson, 2003, Genome scan meta-analysis of schizophrenia and bipolar disorder, part I: Methods and power analysis, American Journal of Human Genetics, 73, 17, 10.1086/376548 Levis, 2004, Genetic linkage studies in a large West African kindred, American Journal of Human Genetics, 75, S2026 MacFarlane, 1991, Stuttering in five generations of a single family: A preliminary report including evidence supporting a sex-modified mode of transmission, Journal of Fluency Disorders, 16, 117, 10.1016/0094-730X(91)90016-6 Mansson, 2000, Childhood stuttering: Incidence and development, Journal of Fluency Disorders, 25, 47, 10.1016/S0094-730X(99)00023-6 McPeek, 2000, Statistical tests for detection of misspecified relationships by use of genome-screen data, American Journal of Human Genetics, 66, 1076, 10.1086/302800 Merette, 2000, Significant linkage for Tourette syndrome in a large French Canadian family, American Journal of Human Genetics, 67, 1008, 10.1086/303093 Neel, 1970, Lessons from a “primitive” people, Science, 170, 815, 10.1126/science.170.3960.815 Newbury, 2002, FOXP2 is not a major susceptibility gene for autism or specific language impairment, American Journal of Human Genetics, 70, 1318, 10.1086/339931 Newman, 2003, Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree, Human Molecular Genetics, 12, 137, 10.1093/hmg/ddg012 Ober, 1998, The genetics of asthma. Mapping genes for complex traits in founder populations, Clinical & Experimental Allergy, 28, 101, 10.1046/j.1365-2222.1998.0280s1101.x Ober, 1998, Genome-wide search for asthma susceptibility loci in a founder population. The collaborative study on the genetics of asthma, Human Molecular Genetics, 7, 1393, 10.1093/hmg/7.9.1393 Ober, 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population, American Journal of Human Genetics, 67, 1154 O’Brien, 2003, Association of specific language impairment (SLI) to the region of 7q31, American Journal of Human Genetics, 72, 1536, 10.1086/375403 O’Connell, 1998, PedCheck: A program for identification of genotype incompatibilities in linkage analysis, American Journal of Human Genetics, 63, 259, 10.1086/301904 Reich, 2001, Linkage disequilibrium in the human genome, Nature, 411, 199, 10.1038/35075590 Riaz, 2005, Genomewide significant linkage to stuttering on chromosome 12, American Journal of Human Genetics, 76, 647, 10.1086/429226 Risch, 2000, Searching for genetic determinants in the new millennium, Nature, 405, 847, 10.1038/35015718 Sanjuan, 2005, FOXP2 polymorphisms in patients with schizophrenia, Schizophrenia Research, 73, 253, 10.1016/j.schres.2004.05.012 Schaid, 2004, Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility loci, American Journal of Human Genetics, 75, 948, 10.1086/425870 Schulte-Korne, 1998, Evidence for linkage of spelling disability to chromosome 15, American Journal of Human Genetics, 63, 279, 10.1086/301919 Shugart, 2004, Results of a genome-wide linkage scan for stuttering, American Journal of Medical Genetics A, 124, 133, 10.1002/ajmg.a.20347 SLI Consortium (2002). A genomewide scan identifies two novel loci involved in specific language impairment. American Journal of Human Genetics, 70, 384–398. Sobel, 1996, Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics, American Journal of Human Genetics, 58, 1323 Spielman, 1996, The TDT and other family-based tests for linkage disequilibrium and association, American Journal of Human Genetics, 59, 983 Suresh, 2006, New complexities in the genetics of stuttering: Significant sex-specific linkage signals, American Journal of Human Genetics, 78, 554, 10.1086/501370 Viswanath, 2004, Evidence for a major gene influence on persistent developmental stuttering, Human Biology, 76, 401, 10.1353/hub.2004.0050 White House Conference Committee Report on Child Health and Protection (1931). Section III, “Special Education: The Handicapped and the Gifted.” New York: D. Appleton Century. Wingate, 1964, A standard definition of stuttering, Journal of Speech and Hearing Disorders, 29, 484, 10.1044/jshd.2904.484 Wise, 1999, Meta-analysis of genome searches, Annals of Human Genetics, 63, 263, 10.1046/j.1469-1809.1999.6330263.x Wright, 1999, Population choice in mapping genes for complex diseases, Nature Genetics, 23, 397, 10.1038/70501 Yairi, 1999, Early childhood stuttering I: Persistency and recovery rates, Journal of Speech, Language, and Hearing Research, 42, 1097, 10.1044/jslhr.4205.1097 Yairi, 2005 Yairi, 1996, Genetics of stuttering: A critical review, Journal of Speech and Hearing Research, 39, 771, 10.1044/jshr.3904.771