메뉴 건너뛰기




Volumn 15, Issue 42067, 2001, Pages 245-259

Association Analysis of Chromosome 15 GABAA Receptor Subunit Genes in Autistic Disorder

Author keywords

autistic disorder; chromosome 15q11 q13; gamma aminobutyric acid; oligonucleotide ligation assay; Single nucleotide polymorphism

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; RECEPTOR SUBUNIT;

EID: 18344386200     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677060109167380     Document Type: Article
Times cited : (155)

References (68)
  • 2
    • 0028206982 scopus 로고
    • Parental origin of Robertsonian translocation (15q22q) and Prader-Willi syndrome associated with autism
    • Arrieta I., Lobato M.N., Martinez B., Criado B. Parental origin of Robertsonian translocation (15q22q) and Prader-Willi syndrome associated with autism. Psych. Genet. 1994; 4: 63 – 65
    • (1994) Psych. Genet. , vol.4 , pp. 63-65
    • Arrieta, I.1    Lobato, M.N.2    Martinez, B.3    Criado, B.4
  • 5
    • 0027934165 scopus 로고
    • Duplication of chromosome 15q11-13 in two additional individuals with Autistic Disorder
    • Baker P., Piven J., Schwartz S., Patil S. Duplication of chromosome 15q11-13 in two additional individuals with Autistic Disorder. J. Autism and Develop. Dis. 1994; 24: 529 – 535
    • (1994) J. Autism and Develop. Dis. , vol.24 , pp. 529-535
    • Baker, P.1    Piven, J.2    Schwartz, S.3    Patil, S.4
  • 6
    • 0008980402 scopus 로고    scopus 로고
    • GABA emerges as a developmental signal during neurogenesis of the rat central nervous system
    • Lippincott Williams and Wilkins, Philadelphia
    • Barker J.L., Behar T.N., Ma W., Marie D., Marie I. GABA emerges as a developmental signal during neurogenesis of the rat central nervous system. GABA in the nervous system: The view at fifty years. Lippincott Williams and Wilkins, Philadelphia 2000; 245 – 263
    • (2000) GABA in the nervous system: The view at fifty years , pp. 245-263
    • Barker, J.L.1    Behar, T.N.2    Ma, W.3    Marie, D.4    Marie, I.5
  • 10
    • 0027935295 scopus 로고
    • Case Reports: Duplication of a 15q11–13 region in a patient with autism, epilepsy and ataxia
    • Bundy S., Hardy C., Vickers S., Kilpatrick M.W., Corbett J.A. Case Reports: Duplication of a 15q11–13 region in a patient with autism, epilepsy and ataxia. Develop. Med. & Child Neurol. 1994; 36: 736 – 742
    • (1994) Develop. Med. & Child Neurol. , vol.36 , pp. 736-742
    • Bundy, S.1    Hardy, C.2    Vickers, S.3    Kilpatrick, M.W.4    Corbett, J.A.5
  • 11
    • 0022462350 scopus 로고
    • Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    • Butler M.G., Meaney F.J., Palmer C.G. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 1986; 23: 793 – 809
    • (1986) Am. J. Med. Genet. , vol.23 , pp. 793-809
    • Butler, M.G.1    Meaney, F.J.2    Palmer, C.G.3
  • 12
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman Syndrome chromosome region (15q11–q13)
    • Christian S.L., Fantes J.A., Mewborn S.K., Huang B., Ledbetter D.H. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman Syndrome chromosome region (15q11–q13). Hum. Molec. Genet. 1999; 8: 1025 – 1037
    • (1999) Hum. Molec. Genet. , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 15
    • 0028298039 scopus 로고
    • Phenotypic consequences of deletion of the γ3, α5, or β3 subunit of the type A γ-amino-butyric acid receptor in mice
    • Culiat C.T., Stubbs L.J., Montgomery C.S., Russell L.B., Rinchik E.M. Phenotypic consequences of deletion of the γ3, α5, or β3 subunit of the type A γ-amino-butyric acid receptor in mice. Proc. Natl. Acad. Sci. USA 1994; 91: 2815 – 2818
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 2815-2818
    • Culiat, C.T.1    Stubbs, L.J.2    Montgomery, C.S.3    Russell, L.B.4    Rinchik, E.M.5
  • 17
    • 0033675289 scopus 로고    scopus 로고
    • Early expression of GABA(A) receptor delta subunit in the neonatal rat hippocampus
    • Didelon F., Mladinic M., Cherubini E., Bradbury A. Early expression of GABA(A) receptor delta subunit in the neonatal rat hippocampus. J. Neurosci. Res. 2000; 62: 638 – 643
    • (2000) J. Neurosci. Res. , vol.62 , pp. 638-643
    • Didelon, F.1    Mladinic, M.2    Cherubini, E.3    Bradbury, A.4
  • 18
    • 0030070898 scopus 로고    scopus 로고
    • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation
    • Flejter W.L., Bennett-Baker P.E., Ghaziuddin M., McDonald M., Sheldon S., Gorski J.L. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. Am. J. Med. Genet. 1996; 61: 182 – 187
    • (1996) Am. J. Med. Genet. , vol.61 , pp. 182-187
    • Flejter, W.L.1    Bennett-Baker, P.E.2    Ghaziuddin, M.3    McDonald, M.4    Sheldon, S.5    Gorski, J.L.6
  • 19
    • 0017337957 scopus 로고
    • Genetic influences and infantile autism
    • Folstein S., Rutter M. Genetic influences and infantile autism. Nature 1977; 265: 726 – 728
    • (1977) Nature , vol.265 , pp. 726-728
    • Folstein, S.1    Rutter, M.2
  • 20
    • 0025778539 scopus 로고
    • Etiology of autism: Genetic influences
    • Folstein S.E., Piven J. Etiology of autism: Genetic influences. Pediatrics 1991; 87: 767 – 773
    • (1991) Pediatrics , vol.87 , pp. 767-773
    • Folstein, S.E.1    Piven, J.2
  • 23
    • 0031127105 scopus 로고    scopus 로고
    • Structure and organization of GABRB3 and GABRA5 [published erratum appears in 1997 Aug 15;44 (1):155]
    • Glatt K., Glatt H., Lalande M. Structure and organization of GABRB3 and GABRA5 [published erratum appears in 1997 Aug 15;44 (1):155]. Genomics 1997; 41: 63 – 69
    • (1997) Genomics , vol.41 , pp. 63-69
    • Glatt, K.1    Glatt, H.2    Lalande, M.3
  • 25
    • 0008983152 scopus 로고    scopus 로고
    • Gene structure, expression and organization at the GABRG3 locus in the human 15q11–q13 autism candidate region
    • Han M.K., Chen Y., Nurmi E.L., Sutcliffe J.S. Gene structure, expression and organization at the GABRG3 locus in the human 15q11–q13 autism candidate region. Am. J. Hum. Genet. 2000; 67: 187
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 187
    • Han, M.K.1    Chen, Y.2    Nurmi, E.L.3    Sutcliffe, J.S.4
  • 26
    • 0028959478 scopus 로고
    • A case of autism associated with partial tetrasomy 15
    • Hotopf M., Bolton P. A case of autism associated with partial tetrasomy 15. J. Autism Develop. Dis. 1995; 25: 41 – 48
    • (1995) J. Autism Develop. Dis. , vol.25 , pp. 41-48
    • Hotopf, M.1    Bolton, P.2
  • 28
    • 0028260642 scopus 로고
    • Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region
    • Knoll J.H.M., Cheng S.D., Lalande M. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat. Genet. 1994; 6: 41 – 45
    • (1994) Nat. Genet. , vol.6 , pp. 41-45
    • Knoll, J.H.M.1    Cheng, S.D.2    Lalande, M.3
  • 29
    • 0027497889 scopus 로고
    • FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal region
    • Knoll J.H.M., Sinnett D., Wagstaff J., Glatt K., Schantz-Wilcox A., Whiting P.M., Wingrove P., Sikela J.M., Lalande M. FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal region. Hum. Mol. Genet. 1993; 2: 183 – 189
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 183-189
    • Knoll, J.H.M.1    Sinnett, D.2    Wagstaff, J.3    Glatt, K.4    Schantz-Wilcox, A.5    Whiting, P.M.6    Wingrove, P.7    Sikela, J.M.8    Lalande, M.9
  • 30
    • 0028937174 scopus 로고
    • Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11–13 contribution
    • LaSalle J.M., Lalande M. Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11–13 contribution. Nat. Genet. 1995; 9: 386 – 394
    • (1995) Nat. Genet. , vol.9 , pp. 386-394
    • LaSalle, J.M.1    Lalande, M.2
  • 31
    • 0033942565 scopus 로고    scopus 로고
    • Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: Further evidence for regional imprinting control
    • Lee S., Wevrick R. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: Further evidence for regional imprinting control. Am. J. Hum. Genet. 2000; 66: 848 – 858
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 848-858
    • Lee, S.1    Wevrick, R.2
  • 32
    • 0027997172 scopus 로고
    • Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C., Rutter M., LeCouteur A. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J. Autism Develop. Dis. 1994; 24: 659 – 685
    • (1994) J. Autism Develop. Dis. , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    LeCouteur, A.3
  • 33
    • 0027351015 scopus 로고
    • The neurobiology and genetics of infantile autism. [Review]
    • Lotspeich L.J., Ciaranello R.D. The neurobiology and genetics of infantile autism. [Review]. Intern. Rev. Neurobiol. 1993; 35: 87 – 129
    • (1993) Intern. Rev. Neurobiol. , vol.35 , pp. 87-129
    • Lotspeich, L.J.1    Ciaranello, R.D.2
  • 36
    • 0035076031 scopus 로고    scopus 로고
    • Correcting for a potential bias in the pedigree disequilibrium test
    • Martin E.R., Bass M.P., Kaplan N.L. Correcting for a potential bias in the pedigree disequilibrium test. Am. J. Hum. Genet. 2001; 68: 1065 – 7
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1065-1067
    • Martin, E.R.1    Bass, M.P.2    Kaplan, N.L.3
  • 38
    • 0033910787 scopus 로고    scopus 로고
    • A test for linkage and association in general pedigrees: The pedigree disequilibrium test (PDT)
    • Martin E.R., Monks S.A., Warren L.L., Kaplan N.L. A test for linkage and association in general pedigrees: The pedigree disequilibrium test (PDT). Am. J. Hum. Genet. 2000b; 67: 146 – 154
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 146-154
    • Martin, E.R.1    Monks, S.A.2    Warren, L.L.3    Kaplan, N.L.4
  • 41
    • 0027191543 scopus 로고
    • Sex differences in higher functioning people with autism
    • McLennan J.D., Lord C., Schopler E. Sex differences in higher functioning people with autism. J. Austim & Develop. Dis. 1993; 23: 217 – 221
    • (1993) J. Austim & Develop. Dis. , vol.23 , pp. 217-221
    • McLennan, J.D.1    Lord, C.2    Schopler, E.3
  • 42
    • 0030687684 scopus 로고    scopus 로고
    • Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer
    • Meguro M., Mitsuya K., Sui H., Shigenami K., Kugoh H., Nakao M., Oshimura M. Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. Hum. Molec. Genet. 1997; 6: 2127 – 2133
    • (1997) Hum. Molec. Genet. , vol.6 , pp. 2127-2133
    • Meguro, M.1    Mitsuya, K.2    Sui, H.3    Shigenami, K.4    Kugoh, H.5    Nakao, M.6    Oshimura, M.7
  • 43
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    • Ozcelik T., Leff S., Robinson W., Donlon T., Lalande M., Sanjines E., Schinzel A., Francke U. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat. Genet. 1992; 2: 265 – 269
    • (1992) Nat. Genet. , vol.2 , pp. 265-269
    • Ozcelik, T.1    Leff, S.2    Robinson, W.3    Donlon, T.4    Lalande, M.5    Sanjines, E.6    Schinzel, A.7    Francke, U.8
  • 50
    • 0026011623 scopus 로고
    • D Nase I-hypersensitive sites and transcription factor-binding motifs within the mouse E beta meiotic recombination hot spot
    • Shenkar R., Shen M.H., Arnheim N. D Nase I-hypersensitive sites and transcription factor-binding motifs within the mouse E beta meiotic recombination hot spot. Molec. Cell. Biol. 1991; 11: 1813 – 1819
    • (1991) Molec. Cell. Biol. , vol.11 , pp. 1813-1819
    • Shenkar, R.1    Shen, M.H.2    Arnheim, N.3
  • 52
    • 0028988637 scopus 로고
    • Functional domains of GABAA receptors
    • Smith G.B., Olsen R.W. Functional domains of GABAA receptors. Trends Pharmacol. Sci. 1995; 16: 162 – 168
    • (1995) Trends Pharmacol. Sci. , vol.16 , pp. 162-168
    • Smith, G.B.1    Olsen, R.W.2
  • 56
    • 0002566323 scopus 로고    scopus 로고
    • Collaborative Linkage Study of Autism (2000). Linkage disequilibrium in autism families to markers in the 15q–q13 autism candidate region
    • Sutcliffe J.S. Collaborative Linkage Study of Autism (2000). Linkage disequilibrium in autism families to markers in the 15q–q13 autism candidate region. Am. J. Hum. Genet., 67 (supp.) 46
    • Am. J. Hum. Genet. , vol.67 , pp. 46
    • Sutcliffe, J.S.1
  • 58
    • 0009036672 scopus 로고    scopus 로고
    • A potential autism susceptibility marker on chromosome 15 includes a genomic deletion at D15S822
    • Sutcliffe J.S., Nurmi E.L., Haines J.L., Piven J., Folstein S.E. A potential autism susceptibility marker on chromosome 15 includes a genomic deletion at D15S822. Am. J. Hum. Genet. 1999; 65 (supp.) 107
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 107
    • Sutcliffe, J.S.1    Nurmi, E.L.2    Haines, J.L.3    Piven, J.4    Folstein, S.E.5
  • 59
    • 0021770555 scopus 로고
    • CG dinucleotide clusters in MHC genes and in 5′ demethylated genes
    • Tykocinski M.L., Max E.E. CG dinucleotide clusters in MHC genes and in 5′ demethylated genes. Nucleic Acids Res. 1984; 12: 4385 – 4396
    • (1984) Nucleic Acids Res. , vol.12 , pp. 4385-4396
    • Tykocinski, M.L.1    Max, E.E.2
  • 61
    • 0002121803 scopus 로고    scopus 로고
    • The Collection of Biological Samples for DNA Analysis
    • Wiley-Liss, New York
    • Vance J.M. The Collection of Biological Samples for DNA Analysis. [8]. Wiley-Liss, New York 1998; 201 – 211
    • (1998) [8] , pp. 201-211
    • Vance, J.M.1
  • 65
    • 0031881661 scopus 로고    scopus 로고
    • A Clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup(15) marker chromosomes
    • Webb T., Hardy C.A., King M., Watkiss E., Mitchell C., Cole T. A Clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup(15) marker chromosomes. Clin. Genet. 1998; 53: 34 – 43
    • (1998) Clin. Genet. , vol.53 , pp. 34-43
    • Webb, T.1    Hardy, C.A.2    King, M.3    Watkiss, E.4    Mitchell, C.5    Cole, T.6
  • 66
    • 0031827203 scopus 로고    scopus 로고
    • Chromosomes in autism and related pervasive developmental disorders: A Cytogenetic study
    • Weidmer-Mikhail E., Sheldonof S., Ghaziuddin M. Chromosomes in autism and related pervasive developmental disorders: A Cytogenetic study. J. Intell. Dis. Res. 1998; 42: 8 – 12
    • (1998) J. Intell. Dis. Res. , vol.42 , pp. 8-12
    • Weidmer-Mikhail, E.1    Sheldonof, S.2    Ghaziuddin, M.3
  • 67


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.