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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Carrier State

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Disease relevance of Carrier State


High impact information on Carrier State


Chemical compound and disease context of Carrier State


Biological context of Carrier State

  • Unique point mutations were documented to be specifically associated with the disease and the carrier state in four unrelated affected males and their family members: one in a boy with no detectable IL2RG mRNA, in which the mutation ablated a splice donor site; one causing premature chain termination; and two causing distinct amino acid changes [16].
  • For this reason, we undertook to further differentiate the T235 carrier state by constructing haplotypes with alleles in the 5' upstream region of AGT [17].
  • In summary, using a haplotype to differentiate further the T235 carrier state, we observed an association of genotype with serum angiotensinogen level and blood pressure in blacks and whites [17].
  • This result implies temporal or differentiation coupling between MVMi cycle and neuroblast morphogenesis, since proliferative granules of the EGL should primarily be infected but must migrate in a virus carrier state into the IGL in order to express the capsid proteins [18].
  • Kinetics of infection in 129S6 mice and Slc11a1-deficient (129S6-Slc11a1(tm1Mcg)) mice demonstrated that the wild-type allele of Slc11a1 contributed to the S. enterica serovar Enteritidis carrier state as early as 7 days postinfection [19].

Anatomical context of Carrier State


Associations of Carrier State with chemical compounds


Gene context of Carrier State

  • In a subgroup of patients with TTP or HUS, the ADAMTS13 defect was inherited, as documented by half-normal levels of ADAMTS13 in their asymptomatic parents, consistent with the heterozygous carrier state [30].
  • The MAPT H1 frequency tended to be higher in AD cases with AGD than in those without AGD, but there were no differences in APOE epsilon4 carrier state [31].
  • RESULTS: A G-->T nucleotide change at position 238 in exon 3 of the RPGR gene resulting in a putative substitute of Gly-->Val at codon 60 was shown to segregate with RP in affected males and the carrier state in female heterozygotes in these two families [32].
  • Thirty-five members of a Spanish family with X-linked RP were evaluated by linkage analysis using nine polymorphic markers (CYBB, DXS1110, M6, DXS6679, DXS1068, DXS1058, MAOA, MAOB and DXS6849) that map to the X-chromosome region Xp21.1 to Xp11.3, in an attempt to determine the carrier state of these females at risk [33].
  • The especially frequent carrier state among the Ashkenazi Jewish population coupled with the high prevalence of BRCA1 and BRCA2 in the same population has led us to search for coinheritance affecting the potential for cancer development [34].

Analytical, diagnostic and therapeutic context of Carrier State


  1. Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. Ware, J., Russell, S.R., Vicente, V., Scharf, R.E., Tomer, A., McMillan, R., Ruggeri, Z.M. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  2. Relation of the hepatitis B virus carrier state to hepatocellular carcinoma. Popper, H., Shafritz, D.A., Hoofnagle, J.H. Hepatology (1987) [Pubmed]
  3. The role of iron and haemochromatosis gene mutations in the progression of liver disease in chronic hepatitis C. Thorburn, D., Curry, G., Spooner, R., Spence, E., Oien, K., Halls, D., Fox, R., McCruden, E.A., MacSween, R.N., Mills, P.R. Gut (2002) [Pubmed]
  4. RsaI polymorphism at the cytochrome P4502E1 locus and risk of hepatocellular carcinoma. Ladero, J.M., Agúndez, J.A., Rodríguez-Lescure, A., Diaz-Rubio, M., Benítez, J. Gut (1996) [Pubmed]
  5. Mechanisms that regulate Epstein-Barr virus EBNA-1 gene transcription during restricted latency are conserved among lymphocryptoviruses of Old World primates. Ruf, I.K., Moghaddam, A., Wang, F., Sample, J. J. Virol. (1999) [Pubmed]
  6. Localization of muscle gene products in nuclear domains. Pavlath, G.K., Rich, K., Webster, S.G., Blau, H.M. Nature (1989) [Pubmed]
  7. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. Diller, L., Sexsmith, E., Gottlieb, A., Li, F.P., Malkin, D. J. Clin. Invest. (1995) [Pubmed]
  8. Wiskott-Aldrich syndrome: detection of carrier state by metabolic stress of platelets. Shapiro, R.S., Gerrard, J.M., Perry, G.S., White, J.G., Krivit, W., Kersey, J.H. Lancet (1978) [Pubmed]
  9. Hepatitis B outbreak among chimpanzees at the London Zoo. Zuckerman, A.J., Thornton, A., Howard, C.R., Tsiquaye, K.N., Jones, D.M., Brambell, M.R. Lancet (1978) [Pubmed]
  10. Methicillin-resistant staphylococcal colonization and infection in a long-term care facility. Muder, R.R., Brennen, C., Wagener, M.M., Vickers, R.M., Rihs, J.D., Hancock, G.A., Yee, Y.C., Miller, J.M., Yu, V.L. Ann. Intern. Med. (1991) [Pubmed]
  11. Are reference limits for serum creatine kinase valid in detection of the carrier state for Duchenne muscular dystrophy? Gruemer, H.D., Miller, W.G., Chinchilli, V.M., Leshner, R.T., Hassler, C.R., Blasco, P.A., Nance, W.E., Goldsmith, B.M. Clin. Chem. (1984) [Pubmed]
  12. Lactulose therapy in Shigella carrier state and acute dysentery. Levine, M.M., Hornick, R.B. Antimicrob. Agents Chemother. (1975) [Pubmed]
  13. Rifampin alone or with trimethoprim for contacts of children with Haemophilus influenzae type b infections. Jadavji, T., Cheung, R., Bannatyne, R.M., Prober, C.G. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. (1986) [Pubmed]
  14. The importance of serum pyruvate kinase in neuromuscular diseases and carrier states. Sage, J., Inati, Y., Samaha, F. Muscle Nerve (1979) [Pubmed]
  15. Methicillin-resistant Staphylococcus aureus. Nosocomial acquisition and carrier state in a wound care center. Kac, G., Buu-Hoï, A., Hérisson, E., Biancardini, P., Debure, C. Archives of dermatology. (2000) [Pubmed]
  16. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Puck, J.M., Deschênes, S.M., Porter, J.C., Dutra, A.S., Brown, C.J., Willard, H.F., Henthorn, P.S. Hum. Mol. Genet. (1993) [Pubmed]
  17. Association of the angiotensinogen gene to serum angiotensinogen in blacks and whites. Bloem, L.J., Foroud, T.M., Ambrosius, W.T., Hanna, M.P., Tewksbury, D.A., Pratt, J.H. Hypertension (1997) [Pubmed]
  18. Parvovirus minute virus of mice strain i multiplication and pathogenesis in the newborn mouse brain are restricted to proliferative areas and to migratory cerebellar young neurons. Ramírez, J.C., Fairén, A., Almendral, J.M. J. Virol. (1996) [Pubmed]
  19. Influence of Slc11a1 on the outcome of Salmonella enterica serovar Enteritidis infection in mice is associated with Th polarization. Caron, J., Larivière, L., Nacache, M., Tam, M., Stevenson, M.M., McKerly, C., Gros, P., Malo, D. Infect. Immun. (2006) [Pubmed]
  20. Late-onset muscle phosphofructokinase deficiency. Danon, M.J., Servidei, S., DiMauro, S., Vora, S. Neurology (1988) [Pubmed]
  21. Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder. Noetzel, M.J., Landau, W.M., Moser, H.W. Arch. Neurol. (1987) [Pubmed]
  22. Analysis of Epstein-Barr virus infection in nasopharyngeal biopsies from a group at high risk of nasopharyngeal carcinoma. Sam, C.K., Brooks, L.A., Niedobitek, G., Young, L.S., Prasad, U., Rickinson, A.B. Int. J. Cancer (1993) [Pubmed]
  23. Prolonged circulation of immune complexes due to various altered immune functions contributes to nephritis in MRL/lpr mice. Granholm, N.A., Cavallo, T. Clin. Exp. Immunol. (1990) [Pubmed]
  24. Inhibition of coxsackievirus B3 carrier state infection of cultured human myocardial fibroblasts by ribavirin and human natural interferon-alpha. Heim, A., Grumbach, I., Pring-Akerblom, P., Stille-Siegener, M., Müller, G., Kandolf, R., Figulla, H.R. Antiviral Res. (1997) [Pubmed]
  25. Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism. Smith, K.J., Thompson, A.R., McMullen, B.A., Frazier, D., Lin, S.W., Stafford, D., Kisiel, W., Thibodeau, S.N., Chen, S.H., Smith, L.F. Blood (1987) [Pubmed]
  26. Levels of adenylate deaminase, adenylate kinase, and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: evidence for a carrier state of myoadenylate deaminase deficiency. Fishbein, W.N., Armbrustmacher, V.W., Griffin, J.L., Davis, J.I., Foster, W.D. Ann. Neurol. (1984) [Pubmed]
  27. Evolutionary potential of an RNA virus. Makeyev, E.V., Bamford, D.H. J. Virol. (2004) [Pubmed]
  28. Rapid selection of genetic and antigenic variants of foot-and-mouth disease virus during persistence in cattle. Gebauer, F., de la Torre, J.C., Gomes, I., Mateu, M.G., Barahona, H., Tiraboschi, B., Bergmann, I., de Mello, P.A., Domingo, E. J. Virol. (1988) [Pubmed]
  29. Decreased urinary C19 and C21 steroid 5 alpha-metabolites in parents of male pseudohermaphrodites with 5 alpha-reductase deficiency: detection of carriers. Imperato-McGinley, J., Peterson, R.E., Gautier, T., Arthur, A., Shackleton, C. J. Clin. Endocrinol. Metab. (1985) [Pubmed]
  30. von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Remuzzi, G., Galbusera, M., Noris, M., Canciani, M.T., Daina, E., Bresin, E., Contaretti, S., Caprioli, J., Gamba, S., Ruggenenti, P., Perico, N., Mannucci, P.M. Blood (2002) [Pubmed]
  31. Increased frequency of argyrophilic grain disease in Alzheimer disease with 4R tau-specific immunohistochemistry. Fujino, Y., Wang, D.S., Thomas, N., Espinoza, M., Davies, P., Dickson, D.W. J. Neuropathol. Exp. Neurol. (2005) [Pubmed]
  32. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Fishman, G.A., Grover, S., Jacobson, S.G., Alexander, K.R., Derlacki, D.J., Wu, W., Buraczynska, M., Swaroop, A. Ophthalmology (1998) [Pubmed]
  33. Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation. Capeans, C., Blanco, M.J., Lareu, M.V., Barros, F., Piñeiro, A., Sanchez-Salorio, M., Carracedo, A. Clin. Genet. (1998) [Pubmed]
  34. Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. Koren-Michowitz, M., Friedman, E., Gershoni-Baruch, R., Brok-Simoni, F., Patael, Y., Rechavi, G., Amariglio, N. Am. J. Hematol. (2005) [Pubmed]
  35. Mediastinitis following coronary artery bypass surgery: a 3-year review. Gaynes, R., Marosok, R., Mowry-Hanley, J., Laughlin, C., Foley, K., Friedman, C., Kirsh, M. J. Infect. Dis. (1991) [Pubmed]
  36. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Epplen, C., Epplen, J.T., Frank, G., Miterski, B., Santos, E.J., Schöls, L. Hum. Genet. (1997) [Pubmed]
  37. Bovine anaplasmosis: elimination of the carrier state with injectable long-acting oxytetracycline. Swift, B.L., Thomas, G.M. J. Am. Vet. Med. Assoc. (1983) [Pubmed]
  38. Binding activity of HBsAg particles from chronic HBsAg carriers to polystyrene beads coated with polymerized human serum albumin: diagnostic relevance of the assay. Hopf, U., Möller, B., Schermer, M., Lobeck, H. Liver (1984) [Pubmed]
  39. Chemotherapy of East Coast fever: the long term weight changes, carrier state and disease manifestations of parvaquone treated cattle. Dolan, T.T. J. Comp. Pathol. (1986) [Pubmed]
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