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Volumn 55, Issue 11, 2010, Pages 749-754

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

Author keywords

c.167delT; c.235delC; congenital deafness; connexin 26; GJB2; mutations c.35delG; populations of Eurasia

Indexed keywords

CONNEXIN 26;

EID: 78649507102     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.101     Document Type: Article
Times cited : (29)

References (48)
  • 4
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immuno-histochemical and ultrastructural analysis
    • Kikuchi, T., Kimura, R., Paul, D. & Adams, J. Gap junctions in the rat cochlea: immuno-histochemical and ultrastructural analysis. Anat. Embryol. (Berl.) 191, 101-118 (1995).
    • (1995) Anat. Embryol. (Berl. , vol.191 , pp. 101-118
    • Kikuchi, T.1    Kimura, R.2    Paul, D.3    Adams, J.4
  • 6
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and non-syndromic sensorineural hearing loss: A HuGE review
    • Kenneson, A., Van Naarden Braun, K. & Boyle, C. GJB2 (connexin 26) variants and non-syndromic sensorineural hearing loss: a HuGE review. Genet. Med. 4, 258-274 (2002).
    • (2002) Genet. Med. , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 8
    • 0034098926 scopus 로고    scopus 로고
    • Molecular bases of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
    • Rabionet, R., Zelante, L., López-Bigas, N., D'Agruma, L., Melchionda, S., Restagno, G. et al. Molecular bases of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum. Genet. 106, 40-44 (2000).
    • (2000) Hum. Genet. , vol.106 , pp. 40-44
    • Rabionet, R.1    Zelante, L.2    López-Bigas, N.3    D'Agruma, L.4    Melchionda, S.5    Restagno, G.6
  • 9
    • 0035129646 scopus 로고    scopus 로고
    • PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France
    • Lucotte, G., Bathelier, C. & Champenois, T. PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France. Mol. Cell. Probes. 15, 57-59 (2001).
    • (2001) Mol. Cell. Probes. , vol.15 , pp. 57-59
    • Lucotte, G.1    Bathelier, C.2    Champenois, T.3
  • 10
    • 0035000818 scopus 로고    scopus 로고
    • Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians
    • Tekin, M., Akar, N., Cin, S., Blanton, S., Xia, X., Liu, X. et al. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum. Genet. 108, 385-389 (2001).
    • (2001) Hum. Genet. , vol.108 , pp. 385-389
    • Tekin, M.1    Akar, N.2    Cin, S.3    Blanton, S.4    Xia, X.5    Liu, X.6
  • 11
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park, H., Hahn, S., Chun, Y., Park, K. & Kim, H. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110, 1535-1538 (2000).
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.1    Hahn, S.2    Chun, Y.3    Park, K.4    Kim, H.5
  • 13
    • 0038237455 scopus 로고    scopus 로고
    • GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder
    • Ohtsuka, A., Yuge, I., Kimura, S., Namba, A., Abe, S. & Van Laer, L. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder. Hum. Genet. 112, 329-339 (2003).
    • (2003) Hum. Genet. , vol.112 , pp. 329-339
    • Ohtsuka, A.1    Yuge, I.2    Kimura, S.3    Namba, A.4    Abe, S.5    Van Laer, L.6
  • 15
    • 57349131522 scopus 로고    scopus 로고
    • Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
    • Han, S., Park, H., Kang, E., Ryu, J., Lee, A., Yang, Y. et al. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J. Hum. Genet. 53, 1022-1028 (2008).
    • (2008) J. Hum. Genet. , vol.53 , pp. 1022-1028
    • Han, S.1    Park, H.2    Kang, E.3    Ryu, J.4    Lee, A.5    Yang, Y.6
  • 16
    • 65649116240 scopus 로고    scopus 로고
    • GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
    • Dai, P., Yu, F., Han, B., Liu, X., Wang, G., Li, Q. et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J. Transl. Med. 14, 7-26 (2009).
    • (2009) J. Transl. Med. , vol.14 , pp. 7-26
    • Dai, P.1    Yu, F.2    Han, B.3    Liu, X.4    Wang, G.5    Li, Q.6
  • 17
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell, R., Kim, H., Hood, L., Goforth, L., Friderici, K., Fisher, R. et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339, 1500-1505 (1998).
    • (1998) N. Engl. J. Med. , vol.339 , pp. 1500-1505
    • Morell, R.1    Kim, H.2    Hood, L.3    Goforth, L.4    Friderici, K.5    Fisher, R.6
  • 18
    • 0033615567 scopus 로고    scopus 로고
    • High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
    • Sobe, T., Erlich, P., Berry, A., Korostichevsky, M., Vreugde, S., Avraham, K. et al. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am. J. Med. Genet. 86, 499-500 (1999).
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 499-500
    • Sobe, T.1    Erlich, P.2    Berry, A.3    Korostichevsky, M.4    Vreugde, S.5    Avraham, K.6
  • 19
    • 0034614011 scopus 로고    scopus 로고
    • Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
    • Lerer, I., Sagi, M., Malamud, E., Levi, H., Raas-Rothschild, A. & Abeliovich, D. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 95, 53-56 (2000).
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 53-56
    • Lerer, I.1    Sagi, M.2    Malamud, E.3    Levi, H.4    Raas-Rothschild, A.5    Abeliovich, D.6
  • 20
    • 38349023660 scopus 로고    scopus 로고
    • Prevalence of connexin 26 mutations in patients from Jordan with non syndromic hearing loss
    • Mahasneh, A. & Battah, R. Prevalence of connexin 26 mutations in patients from Jordan with non syndromic hearing loss. Int. J. Hum. Genet. 6, 119-124 (2006).
    • (2006) Int. J. Hum. Genet. , vol.6 , pp. 119-124
    • Mahasneh, A.1    Battah, R.2
  • 22
    • 67649271379 scopus 로고    scopus 로고
    • Prevalence of Cx26 (GJB2) gene mutation causing recessive nonsyndromic hearing impairment in India
    • Ramchander, P., Nandur, V., Dwarakanath, K., Vishnupriya, S. & Padma, T. Prevalence of Cx26 (GJB2) gene mutation causing recessive nonsyndromic hearing impairment in India. Int. J. Hum. Genet. 5, 241-246 (2005).
    • (2005) Int. J. Hum. Genet. , vol.5 , pp. 241-246
    • Ramchander, P.1    Nandur, V.2    Dwarakanath, K.3    Vishnupriya, S.4    Padma, T.5
  • 23
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL
    • Minárik, G., Ferák, V., Feráková, E., Ficek, A., Poláková, H. & Kádasi, L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen. Physiol. Biophys. 22, 549-556 (2003).
    • (2003) Gen. Physiol. Biophys. , vol.22 , pp. 549-556
    • Minárik, G.1    Ferák, V.2    Feráková, E.3    Ficek, A.4    Poláková, H.5    Kádasi, L.6
  • 24
    • 0035232752 scopus 로고    scopus 로고
    • Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
    • Hamelmann, C., Amedofu, G., Albrecht, K., Muntau, B., Gelhaus, A., Brobby, G. et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum. Mutat. 18, 84-85 (2001).
    • (2001) Hum. Mutat. , vol.18 , pp. 84-85
    • Hamelmann, C.1    Amedofu, G.2    Albrecht, K.3    Muntau, B.4    Gelhaus, A.5    Brobby, G.6
  • 26
    • 0034881345 scopus 로고    scopus 로고
    • A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    • Van Laer, L., Coucke, P., Mueller, R., Caethoven, G., Flothmann, K., Prasad, S. et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J. Med. Genet. 38, 515-518 (2001).
    • (2001) J. Med. Genet. , vol.38 , pp. 515-518
    • Van Laer, L.1    Coucke, P.2    Mueller, R.3    Caethoven, G.4    Flothmann, K.5    Prasad, S.6
  • 28
    • 0043280848 scopus 로고    scopus 로고
    • Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
    • RamShankar, M., Girirajan, S., Dagan, O., Ravi Shankar, H., Jalvi, R., Rangasayee, R. et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. 40, e68 (2003).
    • (2003) J. Med. Genet. , vol.40
    • Ramshankar, M.1    Girirajan, S.2    Dagan, O.3    Ravi Shankar, H.4    Jalvi, R.5    Rangasayee, R.6
  • 29
    • 10744230689 scopus 로고    scopus 로고
    • Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in East Asians
    • Yan, D., Park, H., Ouyang, X., Pandya, A., Doi, K., Erdenetungalag, R. et al. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in East Asians. Hum. Genet. 114, 44-50 (2003).
    • (2003) Hum. Genet. , vol.114 , pp. 44-50
    • Yan, D.1    Park, H.2    Ouyang, X.3    Pandya, A.4    Doi, K.5    Erdenetungalag, R.6
  • 30
    • 56049122218 scopus 로고    scopus 로고
    • Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
    • Kokotas, H., Van Laer, L., Grigoriadou, M., Iliadou, V., Economides, J., Pomoni, S. et al. Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. Am. J. Med. Genet. 146A, 2879-2884 (2008).
    • (2008) Am. J. Med. Genet. , vol.146 A , pp. 2879-2884
    • Kokotas, H.1    Van Laer, L.2    Grigoriadou, M.3    Iliadou, V.4    Economides, J.5    Pomoni, S.6
  • 31
    • 0034609284 scopus 로고    scopus 로고
    • Relation between choice of partner and high frequency of connexin-26 deafness
    • Nance, W., Liu, X. & Pandya, A. Relation between choice of partner and high frequency of connexin-26 deafness. Lancet. 356, 500-501 (2000).
    • (2000) Lancet. , vol.356 , pp. 500-501
    • Nance, W.1    Liu, X.2    Pandya, A.3
  • 32
    • 3142683658 scopus 로고    scopus 로고
    • Further evidence for heterozygote advantage of GJB2 deafness mutations: A link with cell survival
    • Common, J., Di, W., Davies, D. & Kelsell, D. Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. J. Med. Genet. 41, 573-575 (2004).
    • (2004) J. Med. Genet. , vol.41 , pp. 573-575
    • Common Di J, W.1    Davies, D.2    Kelsell, D.3
  • 34
    • 2242473800 scopus 로고    scopus 로고
    • Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region
    • Khidiyatova, I., Dzhemileva, L., Khabibulin, R. & Khusnutdinova, E. Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region. Mol. Biol. (Mosk). 36, 438-441 (2002).
    • (2002) Mol. Biol. (Mosk). , vol.36 , pp. 438-441
    • Khidiyatova, I.1    Dzhemileva, L.2    Khabibulin, R.3    Khusnutdinova, E.4
  • 35
    • 54049145246 scopus 로고    scopus 로고
    • Genetic differentiation ethnic groups of Russia on genes of hereditary disorders
    • [in Russian]
    • Zinchenko, R., El'chinova, G., Galkina, V., Kirillov, A., Abrukova, A., Petrova, N. et al. Genetic differentiation ethnic groups of Russia on genes of hereditary disorders. Med. Genetika. 6, 29-37 (2007)[in Russian].
    • (2007) Med. Genetika. , vol.6 , pp. 29-37
    • Zinchenko, R.1    El'Chinova, G.2    Galkina, V.3    Kirillov, A.4    Abrukova, A.5    Petrova, N.6
  • 36
    • 78649500782 scopus 로고    scopus 로고
    • Genetic-epidemiological and molecular study of hereditary deafness in Rostov province
    • [in Russian]
    • Shokarev, R., Amelina, S., Kriventsova, N., Elchinova, G., Khlebnikova, O., Bliznetz, E. et al. Genetic-epidemiological and molecular study of hereditary deafness in Rostov province. Med. Genetika. 4, 556-567 (2005)[in Russian].
    • (2005) Med. Genetika. , vol.4 , pp. 556-567
    • Shokarev, R.1    Amelina, S.2    Kriventsova, N.3    Elchinova, G.4    Khlebnikova, O.5    Bliznetz, E.6
  • 37
    • 33646150467 scopus 로고    scopus 로고
    • Autosomal-recessive deafness
    • Petersen, M. & Willems, P. Non-syndromic, autosomal-recessive deafness. Clin. Genet. 69, 371-392 (2006).
    • (2006) Clin. Genet. , vol.69 , pp. 371-392
    • Petersen, M.1    Non-Syndromic, W.P.2
  • 38
    • 0034876240 scopus 로고    scopus 로고
    • Meta-analysis of GJB2 mutation 35delG frequencies in Europe
    • Lucotte, G. & Mercier, G. Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet. Test. 5, 149-152 (2001).
    • (2001) Genet. Test. , vol.5 , pp. 149-152
    • Lucotte, G.1    Mercier, G.2
  • 39
    • 34247151212 scopus 로고    scopus 로고
    • High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area
    • Lucotte, G. High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area. Int. J. Pediatr. Otorhinolaryngol. 71, 741-746 (2007).
    • (2007) Int. J. Pediatr. Otorhinolaryngol. , vol.71 , pp. 741-746
    • Lucotte, G.1
  • 40
    • 70350502856 scopus 로고    scopus 로고
    • Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency
    • Mahdieh, N. & Rabbani, B. Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency. Int. J. Audiol. 48, 363-370 (2009).
    • (2009) Int. J. Audiol. , vol.48 , pp. 363-370
    • Mahdieh, N.1    Rabbani, B.2
  • 45
    • 0033597554 scopus 로고    scopus 로고
    • Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
    • Fuse, Y., Doi, K., Hasegawa, T., Sugii, A., Hibino, H. & Kubo, T. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 10, 1853-1857 (1999).
    • (1999) Neuroreport , vol.10 , pp. 1853-1857
    • Fuse, Y.1    Doi, K.2    Hasegawa, T.3    Sugii, A.4    Hibino, H.5    Kubo, T.6
  • 46
    • 0034677194 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    • Kudo, T., Ikeda, K., Kure, S., Matsubara, Y., Oshima, T., Watanabe, K. et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am. J. Med. Genet. 90, 141-145 (2000).
    • (2000) Am. J. Med. Genet. , vol.90 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3    Matsubara, Y.4    Oshima, T.5    Watanabe, K.6
  • 47
    • 20044386157 scopus 로고    scopus 로고
    • GJB2 (connexin 26) mutations are not a major cause of hearing loss in the indonesian population
    • Snoeckx, R., Huygen, P., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J. et al. GJB2 (connexin 26) mutations are not a major cause of hearing loss in the indonesian population. Am. J. Med. Genet. A. 135, 126-129 (2005).
    • (2005) Am. J. Med. Genet. A. , vol.135 , pp. 126-129
    • Snoeckx, R.1    Huygen, P.2    Feldmann, D.3    Marlin, S.4    Denoyelle, F.5    Waligora, J.6
  • 48
    • 33748742366 scopus 로고    scopus 로고
    • Investigating the effects of prehistoric migrations in Siberia: Genetic variation and the origins of Yakuts
    • Pakendorf, B., Novgorodov, I., Osakovskij, V., Danilova, A., Protod'jakonov, A. & Stoneking, M. Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts. Hum. Genet. 120, 334-353 (2006).
    • (2006) Hum. Genet. , vol.120 , pp. 334-353
    • Pakendorf, B.1    Novgorodov, I.2    Osakovskij, V.3    Danilova, A.4    Protod'Jakonov, A.5    Stoneking, M.6


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