Molecular genetic investigations of autism

Journal of Autism and Developmental Disorders

Volumn 28, Issue 5, 1998, Pages 427-437

  Maestrini, Elena ^a   Marlow, Angela J ^a   Weeks, Daniel E ^a   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Autism; Genetics; Genotyping

Indexed keywords

AUTISM; FAMILY STUDY; GENE ISOLATION; GENE MAPPING; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MARKER GENE; PRIORITY JOURNAL; REVIEW; STATISTICAL ANALYSIS;

AUTISTIC DISORDER; CHROMOSOME MAPPING; DATA INTERPRETATION, STATISTICAL; DISEASE SUSCEPTIBILITY; DNA, SATELLITE; GENETIC MARKERS; GENOTYPE; HUMANS; RESEARCH DESIGN;

EID: 0032454487     PISSN: 01623257     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1026056522602     Document Type: Review

References (64)

1. Abramson, R. K., Wright, H. H., Carpenter, R., Brennan, W., Lumpuy, O., Cole, E., & Young, S. R. (1989). Elevated blood serotonin in autistic probands and their first-degree relatives. Journal of Autism and Developmental Disorders, 19, 397-407.
2. Anderson, G. M., Freedman, D. X., Cohen, D. J., Volkmar, F. R., Hoder, E. L., McPhedran, P., Minderaa, R. B., Hansen, C. R., & Young, J. G. (1987). Whole blood serotonin in autistic and normal subjects. Journal of Child Psychology and Psychiatry, 28, 885-900.
3. Bailey, A., Le Couleur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63-77.
4. Baker, P., Piven, J., Schwartz, S., & Patil, S. (1994). Duplication of chromosome 15q11-13 in two individuals with autistic disorder. Journal of Autism and Developmental Disorders, 24, 529-535.
5. Bennett, S. T., Lucassen, A. M., Gough, S. C. L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., Pociot, F., Nerup, J., Bouzekri, N., Cambon-Thomsen, A., Ronningen, K. S., Barnett, A. H., Bain, S. C., & Todd, J. A. (1995). Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genetics, 9, 284-292.
6. Blackwood, D. H. R., He, L., Morris, S. W., McLean, A., Whitton, C., Thomson, M., Walker, M. T., Woodburn, K., Sharp, C. M., Wright, A. F., Shibasaki, Y., St.Clair, D. M., Porteus, D. J., & Muir, W. J. (1996). A locus for bipolar affective disorder on chromosome 4p. Nature Genetics, 12, 427-430.
7. Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., & Rutter, M. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry, 35, 877-900.
8. Brown, D. L., Gorin, M. B., & Weeks, D. E. (1994). Efficient strategies for genomic searching using the affected-pedigree-member method of linkage analysis. American Journal of Human Genetics, 54, 544-552.
9. Bundey, S., Hardy, C., Vickers, S., Kilpatrick, M. W., & Corbett, J. A. (1994). Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Developmental Medicine and Child Neurology, 36, 736-742.
10. Collins, F. (1995). Positional cloning moves from perditional to traditional. Nature Genetics, 9, 347-350.
11. Cook, E. H., Courchesne, R., Lord, C., Cox, N. J., Yan, S., Lincoln, A., Haas, R., Courchesne, E., & Leventhal, B. L. (1997). Evidence of linkage between the serotonin transporter and autistic disorder. Molecular Psychiatry, 2, 247-250.
12. Cook, E. H., Lindgren, V., Leventhal, B. L., Courchesne, R., Lincoln, A., Shulman, C., Lord, C., & Courchesne, E. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics, 60, 928-934.
13. Cooperative-Human-Linkage-Center. (1994). A comprehensive human linkage map with centimorgan density. Science, 265, 2049-2054.
14. Curtis, D. (1996). Genetic dissection of complex traits. Nature Genetics, 12, 356-357.
15. Daniels, S. E., Bhattacharrya, S., James, A., Leaves, N. I., Young, A., Hill, M. R., Faux, J. A., Ryan, G. F., Le Söuef, P. N., Lathrop, G. M., Musk, A. W., & Cookson, W. C. C. M. (1996). A genome-wide search for quantitative trait loci underlying asthma. Nature, 383, 247-250.
16. Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C. L., Jenkins, S. C., Palmer, S. M., Balfour, K. M., Rowe, B. R., Farrall, M., Barnett, A. H., Bain, S. C., & Todd, J. A. (1994). A genome-wide search for human type 1 diabetes susceptibility genes. Nature, 371, 130-136.
17. Dib, C., Fauré, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Milasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., & Weissenbach, J. (1996). The Généthon human genetic linkage map. Nature, 380, 152-154.
18. Elston, R. C. (1992). Designs for the global search of the human genome by linkage analysis. In XVIth International Biometric Conference, pp. 39-51.
19. Flejter, W. L., Bennett-Baker, P. E., Ghaziuddin, M., McDonald, M., Shekdon, S., & Gorski, J. L. (1996). Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. American Journal of Medical Genetics, 61, 182-187.
20. Freimer, N. B., Reus, V. I., Escamilla, M. A., McInnes, L. A., Spesny, M., Leon, P., Service, S. K., Smith, L. B., Silva, S., Rojas, E., et al. (1996). Genetic mapping using haplotype, association and linkage methods suggested a locus for severe bipolar disorder (BP1) at 18q22-q23. Nature Genetics, 12, 436-441.
21. Fulker, D. W., & Cardon, L. R. (1994). A sib-pair approach to interval mapping of quantitative trait loci. American Journal of Human Genetics, 54, 1092-1103.
22. Ginns, E. I., Ott, J., Egeland, J. A., Allen, C. R., Fann, C. S. J., Pauls, D. L., Weissenbach, J., Carulli, J. P., Falls, K. M., Keith, T. P., & Paul, S. M. (1996). A genome-wide search for chromosomal loci linked to bipolar disorder in the Old Order Amish. Nature Genetics, 12, 431-435.
23. Goldgar, D. E. (1990). Multipoint analysis of human quantitative genetic variation. American Journal of Human Genetics, 47, 957-967.
24. Gordon, C. T., State, R. C., Nelson, J. E., Hamburger, S. D., & Rapoport, J. L. (1993). A double-blind comparison of clomipramine, desipramine, and placebo in the treatment of autistic disorder. Archives of General Psychiatry, 50, 441-447.
25. Hallmeyer, J., Hebert, J. M., Spiker, D., Lotspeich, L., McMahon, W. M., Petersen, P. B., Nicholas, P., Pingree, C., Lin, A. A., Cavalli-Sforza, L. L., Risch, N., & Ciaranello, R. D. (1996). Autism and the X chromosome. Archives of General Psychiatry, 53, 985-989.
26. Hashimoto, L., Habita, C., Beressi, J. P., Besse, C., Cambon-Thomsen, A., Deschamps, I., Rotter, J. I., Djoulah, S., James, M. R., Froguel, P., Weissenbach, J., Lathrop, G. M., & Julier, C. (1994). Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature, 371, 161-164.
27. Hauser, E. R., Boehnke, M., Guo, S. W., & Risch, N. (1996). Affected-sib-pair interval mapping and exclusion for complex genetic traits: Sampling considerations. Genetic Epidemiology, 13, 117-137.
28. Holmans, P. (1993). Asymptotic properties of affected-sib-pair linkage analysis. American Journal of Human Genetics, 52, 362-374.
29. Holmans, P., & Clayton, D. (1995). Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. American Journal of Human Genetics, 57, 1221-1232.
30. Hudson, T. J., Stein, L. D., Gerety, S. S., Ma, J., Castle, A. B., Silva, J., Slonim, D. K., Baptista, R., Kryglyak, L., Xu, S. H., et al. (1995). An STS-bases map of the human genome. Science, 270, 1945-1954.
31. Hugot, J. P., Laurent-Puig, P., Gower-Rousseau, C., Olson, J. M., Lee, J. C., Beaugerie, L., Naom, I., Dupas, J. L., Van Gossum, A., et al. (1996). Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature, 379, 821-823.
32. Ishikawa-Brush, Y., Powell, J. F., Bolton, P., Miller, A. P., Francis, F., Willard, H. F., Lehrach, H., & Monaco, A. P. (1997). Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Human Molecular Genetics, 6, 1241-1250.
33. Kruglyak, L. (1996). Thresholds and sample sizes. Nature Genetics, 14, 132-133.
34. Kruglyak, L., & Lander, E. S. (1995). High-resolution genetic mapping of complex traits. American Journal of Human Genetics, 56, 1212-1223.
35. Lander, E., & Kruglyak, L. (1995). Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nature Genetics, 11, 241-247.
36. LeCouter, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holdgrafer, M., & McLennan, J. (1989). Autism Diagnostic Interview: A standardized investigator-based instrument. Journal of Autism and Developmental Disorders, 19, 363-387.
37. Lord, C., Rutter, M., Good, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989). Autism Diagnostic Observation Schedule: A standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders, 19, 185-212
38. McDougle, C. J., Naylor, S. T., Cohen, D. J., Volkmar, F. R., Heniger, G. R., & Price, L. H. (1996). A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder. Archives of General Psychiatry, 53, 1001-1008.
39. Moises, H. W., Yang, L., Kristbjarnarson, H., Wiese, C., Byerley, W., Macciardi, F., Arolt, V., Blackwood, D., Liu, X., Sjogren, B., et al. (1995). An international two-stage genome-wide search for schizophrenia susceptibility genes. Nature Genetics, 11, 321-324.
40. Morton, N. E. (1955). Sequential tests for the detection of linkage. American Journal of Human Genetics, 7, 277-318.
41. Pericak-Vance, M. A., & Haines, J. L. (1995). Genetic susceptibility to Alzheimer disease. Trends in Genetics, 11, 504-508.
42. Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couleur, A., Sim, C.-H., & Rutter, M. (1995). Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: A twin and family history study of autism. American Journal of Human Genetics, 57, 717-726.
43. Piven, J., Tsai, G. C., Nehme, E., Coyle, J. T., Chase, G. A., & Folstein, S. E. (1991). Platelet serotonin, a possible marker for familial autism. Journal of Autism and Developmental Disorders, 21, 51-59.
44. Pulver, A. E., Lasseter, V. K., Kasch, L., Wolyniec, P., Nestadt, G., Blouim, J.-L., Kimberland, M., Babb, R., Vourlis, S., Chen, H., et al. (1995). Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. American Journal of Medical Genetics, 60, 252-260.
45. Reed, P. W., Davies, J. L., Copeman, J. B., Bennett, S. T., Palmer, S. M., Prithchard, L. E., Gough, S. C. L., Kawaguchi, Y., J., C. H., Balfour, K. M., Jenkins, S. C., Powell, E. E., Vignal, A., & Todd, J. A. (1994). Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping. Nature Genetics, 7, 390-395.
46. Risch, N. (1990a). Linkage strategies for genetically complex traits: II. The power of affected relative pairs. American Journal of Human Genetics, 46, 229-241.
47. Risch, N. (1990b). Linkage strategies for genetically complex traits: I. Multilocus model. American Journal of Human Genetics, 46, 222-228.
48. Risch, N. (1990c). Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs. American Journal of Human Genetics, 46, 242-253.
49. Risch, N., & Merikangas, K. (1996). The future of genetic studies of complex human diseases. Science, 273, 1516-1517.
50. Satsangi, J., Parkes, M., Louis, E., Hashimoto, L., Kato, N., Welsh, K., Terwilliger, J. D., Lathrop, G. M., Bell, J. I., Jewell, & D. P. (1996). Two stage genome-wide search for inflammatory bowel disease provides evidence for susceptibility loci on chromosome 3, 7 and 12. Nature Genetics, 14, 199-202.
51. Sawcer, S., Goodfellow, P. N., & Compston, A. (1997). The genetic analysis of multiple sclerosis. Trends in Genetics, 13, 234-239.
52. Sawcer, S., Jones, H. B., Feakes, R., Gray, J., Smaldon, N., Chataway, J., Robertson, N., Clayton, D., Goodfellow, P. N., & Compston, A. (1996). A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nature Genetics, 13, 464-468.
53. Sawcer, S., Jones, H. B., Judge, D., Visser, F., Compston, A., Goodfellow, P. N., & Clayton, D. (1997). Empirical genomewide significance levels established by whole genome simulations. Genetic Epidemiology, 14, 223-229.
54. Schuler, G. D., Boguski, M. S., Stewart, E. A., Stein, L. D., Gyapay, G., Rice, K., White, R. E., Rodriguez-Tome, P., Aggarwal, A., Bajorek, E., et al. (1996). A gene map of the human genome. Science, 274, 540-546.
55. Smalley, S. L. (1997). Genetic influences in childhood-onset psychiatric disorders: Autism and attention-deficit/hyperactivity disorder. American Journal of Human Genetics, 60, 1276-1282.
56. Smalley, S. L., Asarnow, R. F., & Spence, M. A. (1988). Autism and genetics. A decade of research. Archives of General Psychiatry, 45, 953-961.
57. Spielman, R., McGinnis, R., & Ewens, W. (1993). Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus. American Journal of Human Genetics, 52, 506-516.
58. Suarez, B. K., Hampe, C. L., & Van Eerdewegh, P. (1994). Problems of replicating linkage claims in psychiatry. In E. S. Gershon & C. R. Cloninger (Eds.), Genetic approaches to mental disorder, Washington, DC: American Psychiatric Press
59. Suarez, B. K., Rice, J. P., & Reich, T. (1978). The generalized sib pair IBD distribution: Its use in the detection of linkage. Annals of Human Genetics, 42, 87-94.
60. Utah-Marker-Development-Group. (1995). A collection of tetranucleotide-repeat markers from the human genome. American Journal of Human Genetics, 57, 619-628.
61. Wada, E., Way, J., Shipira, H., Kusano, K., Lebacq-Verheyden, A., Coy, D., Jensen, R., & Battery, J. (1991). cDNA cloning, characterization and brain region-specific expression of a neuromedin-β-preferring bombesin receptor. Neuron, 6, 421-430.
62. Weeks, D. E., & Lathrop, G. M. (1995). Polygenic disease: Methods for mapping complex disease traits. Trends in Genetics, 11, 513-519.
63. Wilson, A. F., & Elston, R. C. (1993). Statistical validity of the Haseman-Elston sib-pair test in small samples. Genetic Epidemiology, 10, 593-598.
64. Witte, J. S., Elston, R. C., & Schork, N. J. (1996.). Genetic dissection of complex traits. Nature Genetics, 12, 355-356.