{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:14Z","timestamp":1760767814907,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,5]]},"abstract":"<jats:p>Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness. The condition is associated with fundus discolouration and abnormally slow dark adaptation. Earlier studies suggested that the 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytogenetic and linkage studies have localised the S antigen gene (SAG) to chromosome 2q37.1. In the present study markers which map to distal chromosome 2q were typed in an inbred Oguchi pedigree. The segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345. An intragenic SAG polymorphism was homozygous in all affected people and a recombination event suggested that SAG maps proximal to D2S345. Collectively, these findings support the hypothesis that a defect in S antigen may be responsible for Oguchi disease.<\/jats:p>","DOI":"10.1136\/jmg.32.5.396","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"396-398","source":"Crossref","is-referenced-by-count":23,"title":["Oguchi disease: suggestion of linkage to markers on chromosome 2q."],"prefix":"10.1136","volume":"32","author":[{"given":"M A","family":"Maw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"John","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Jablonka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Kumaramanickavel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Oehlmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Denton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,5,1]]},"reference":[{"key":"ref_1","first-page":"396","article-title":"In the present study markers which map to distal chromosome 2q were typed in an inbred Oguchi pedigree. The segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345. An intragenic SAG polymorphism was homozygous in all affected people and a recombination event suggested that SAG maps proximal to D2S345. Collectively, these findings support the hypothesis that a defect in S antigen may be responsible for Oguchi disease","volume":"32","year":"1995","unstructured":"In the present study markers which map to distal chromosome 2q were typed in an inbred Oguchi pedigree. The segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345. An intragenic SAG polymorphism was homozygous in all affected people and a recombination event suggested that SAG maps proximal to D2S345. Collectively, these findings support the hypothesis that a defect in S antigen may be responsible for Oguchi disease. (J Med Genet 1995;32:396-398)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000302795","article-title":"La Maladie d'Oguchi","volume":"131","author":"Francois, J.; Verriest, G.; De Rouck, A.","year":"1956","unstructured":"Francois J, Verriest G, De Rouck A. La Maladie d'Oguchi. Ophthalmologica 1956;131: 1-40.","journal-title":"Ophthalmologica"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1001\/archopht.1965.00970030648010","article-title":"Oguchi's disease","volume":"73","author":"Carr, R.E.; Gouras, P.","year":"1965","unstructured":"Carr RE, Gouras P. Oguchi's disease. Arch Ophthalnmol 1965; 73:646-56.","journal-title":"Arch Ophthalnmol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0896-6273(92)90113-R","article-title":"The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction","volume":"8","author":"Palczewski, K.; Rispoli, G.; Detwiler, P.B.","year":"1992","unstructured":"Palczewski K, Rispoli G, Detwiler PB. The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction. Neuron 1992;8: 117-26.","journal-title":"Neuron"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"15770","DOI":"10.1016\/S0021-9258(18)71543-3","article-title":"Regulation of rhodopsin dephosphorylation by arrestin","volume":"264","author":"Palczewski, K.; McDowell, J.H.; Takes, S.; Ingebritsen, T.S.; Hargrave, P.A.","year":"1989","unstructured":"Palczewski K, McDowell JH, Takes S, Ingebritsen TS, Hargrave PA. Regulation of rhodopsin dephosphorylation by arrestin. _7 Biol Chem 1989;264:15770-3.","journal-title":"_7 Biol Chem"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1006\/geno.1993.1155","article-title":"Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome type","volume":"16","author":"Lu-Kuo, J.; Ward, D.C.; Spritz, R.A.","year":"1993","unstructured":"Lu-Kuo J, Ward DC, Spritz RA. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome type I (WS 1) locus (PAX3 gene). Genomics 1993;16: 173-9.","journal-title":"Genomics"},{"key":"ref_7","first-page":"193","article-title":"Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172","volume-title":"Hum Genet","volume":"94","author":"Valverde, D.; Bayes, M.; Martinez, I.","year":"1994","unstructured":"Valverde D, Bayes M, Martinez I, et al. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet 1994;94:193-4."},{"key":"ref_8","first-page":"567","article-title":"Detection of multiallelic polymorphisms within gene sequences by GC- clamped denaturing gradient gel electrophoresis","volume":"50","author":"Sheffield, V.C.; Beck, J.S.; Nichols, B.","year":"1992","unstructured":"Sheffield VC, Beck JS, Nichols B, et al. Detection of multiallelic polymorphisms within gene sequences by GC- clamped denaturing gradient gel electrophoresis. Ani 7 Humn Genet 1992;50:567-75.","journal-title":"Ani 7 Humn Genet"},{"key":"ref_9","first-page":"246","article-title":"The 1993-1994 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morissette, J.; Vignal, A.","year":"1994","unstructured":"Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. 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