메뉴 건너뛰기




Volumn 6, Issue 9, 2011, Pages

Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE STRUCTURE; GENETIC ANALYSIS; GENOMIC FRAGMENT; HAPLOTYPE; HOMOZYGOSITY HAPLOTYPE; HOMOZYGOSITY MAPPING; HUMAN; OUTBREEDING; PHYLOGENY; POPULATION GENETICS; RECESSIVE GENE; SIIYAMA TYPE ALPHA 1 ANTITRYPSIN DEFICIENCY; ADULT; AGED; CASE CONTROL STUDY; CHROMOSOME MAP; COMPARATIVE STUDY; CONSANGUINITY; GENETICS; HOMOZYGOTE; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 80052931233     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025059     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio TA, (2010) Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176.
    • (2010) N Engl J Med , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 3
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy J, Singleton A, (2009) Genomewide association studies and human disease. N Engl J Med 360: 1759-1768.
    • (2009) N Engl J Med , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 4
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
    • (2008) Nat Rev Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5
  • 5
    • 0023239442 scopus 로고
    • Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D, (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 6
    • 59249092391 scopus 로고    scopus 로고
    • A systematic approach to mapping recessive disease genes in individuals from outbred populations
    • Hildebrandt F, Heeringa SF, Ruschendorf F, Attanasio M, Nurnberg G, et al. (2009) A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 5: e1000353.
    • (2009) PLoS Genet , vol.5
    • Hildebrandt, F.1    Heeringa, S.F.2    Ruschendorf, F.3    Attanasio, M.4    Nurnberg, G.5
  • 7
    • 77950332127 scopus 로고    scopus 로고
    • High-resolution detection of identity by descent in unrelated individuals
    • Browning SR, Browning BL, (2010) High-resolution detection of identity by descent in unrelated individuals. Am J Hum Genet 86: 526-539.
    • (2010) Am J Hum Genet , vol.86 , pp. 526-539
    • Browning, S.R.1    Browning, B.L.2
  • 8
    • 33846842330 scopus 로고    scopus 로고
    • Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis
    • Huqun, Izumi S, Miyazawa H, Ishii K, Uchiyama B, et al. (2007) Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis. Am J Respir Crit Care Med 175: 263-268.
    • (2007) Am J Respir Crit Care Med , vol.175 , pp. 263-268
    • Huqun1    Izumi, S.2    Miyazawa, H.3    Ishii, K.4    Uchiyama, B.5
  • 9
    • 34250861479 scopus 로고    scopus 로고
    • Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients
    • Miyazawa H, Kato M, Awata T, Kohda M, Iwasa H, et al. (2007) Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet 80: 1090-1102.
    • (2007) Am J Hum Genet , vol.80 , pp. 1090-1102
    • Miyazawa, H.1    Kato, M.2    Awata, T.3    Kohda, M.4    Iwasa, H.5
  • 10
    • 77957924025 scopus 로고    scopus 로고
    • A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
    • Huqun, Fukuyama S, Morino H, Miyazawa H, Tanaka T, et al. (2010) A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data. BMC Bioinformatics 11 (Suppl 7): S5.
    • (2010) BMC Bioinformatics , vol.11 , Issue.SUPPL. 7
    • Huqun1    Fukuyama, S.2    Morino, H.3    Miyazawa, H.4    Tanaka, T.5
  • 11
    • 77952419246 scopus 로고    scopus 로고
    • Mutations of optineurin in amyotrophic lateral sclerosis
    • Maruyama H, Morino H, Ito H, Izumi Y, Kato H, et al. (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226.
    • (2010) Nature , vol.465 , pp. 223-226
    • Maruyama, H.1    Morino, H.2    Ito, H.3    Izumi, Y.4    Kato, H.5
  • 12
    • 0028864726 scopus 로고
    • Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan
    • Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S, (1995) Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med 152: 2119-2126.
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 2119-2126
    • Seyama, K.1    Nukiwa, T.2    Souma, S.3    Shimizu, K.4    Kira, S.5
  • 13
    • 0000178021 scopus 로고
    • The combination of linkage values, and the calculation of distances between the loci of linked factors
    • Haldane J, (1919) The combination of linkage values, and the calculation of distances between the loci of linked factors. J Genet 8: 299-309.
    • (1919) J Genet , vol.8 , pp. 299-309
    • Haldane, J.1
  • 14
    • 79952188041 scopus 로고    scopus 로고
    • Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
    • Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, et al. (2011) Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med 13: 218-229.
    • (2011) Genet Med , vol.13 , pp. 218-229
    • Berg, J.S.1    Evans, J.P.2    Leigh, M.W.3    Omran, H.4    Bizon, C.5
  • 16
    • 79952441604 scopus 로고    scopus 로고
    • An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
    • Salvatore D, Buzzetti R, Baldo E, Forneris MP, Lucidi V, et al. (2011) An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea. J Cystic Fibrosis 10: 71-85.
    • (2011) J Cystic Fibrosis , vol.10 , pp. 71-85
    • Salvatore, D.1    Buzzetti, R.2    Baldo, E.3    Forneris, M.P.4    Lucidi, V.5
  • 17
    • 8544252461 scopus 로고    scopus 로고
    • Ashkenazi Jewish genetic disorders
    • Charrow J, (2004) Ashkenazi Jewish genetic disorders. Familial Cancer 3: 201-206.
    • (2004) Familial Cancer , vol.3 , pp. 201-206
    • Charrow, J.1
  • 18
    • 0036403768 scopus 로고    scopus 로고
    • Balanced polymorphism selected by genetic versus infectious human disease
    • Dean M, Carrington M, O'Brien SJ, (2002) Balanced polymorphism selected by genetic versus infectious human disease. Annu Rev Genomics Hum Genet 3: 263-292.
    • (2002) Annu Rev Genomics Hum Genet , vol.3 , pp. 263-292
    • Dean, M.1    Carrington, M.2    O'Brien, S.J.3
  • 19
    • 0028940272 scopus 로고
    • Variability of the genetic contribution of Quebec population founders associated to some deleterious genes
    • Heyer E, Tremblay M, (1995) Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am J Hum Genet 56: 970-978.
    • (1995) Am J Hum Genet , vol.56 , pp. 970-978
    • Heyer, E.1    Tremblay, M.2
  • 20
    • 25144485002 scopus 로고    scopus 로고
    • Population history and its impact on medical genetics in Quebec
    • Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, et al. (2005) Population history and its impact on medical genetics in Quebec. Clin Genet 68: 287-301.
    • (2005) Clin Genet , vol.68 , pp. 287-301
    • Laberge, A.M.1    Michaud, J.2    Richter, A.3    Lemyre, E.4    Lambert, M.5
  • 21
    • 0027581094 scopus 로고
    • Origin and population structure of the Icelanders
    • Williams JT, (1993) Origin and population structure of the Icelanders. Hum Biol 65: 167-191.
    • (1993) Hum Biol , vol.65 , pp. 167-191
    • Williams, J.T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.