{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:32:23Z","timestamp":1760747543810,"version":"build-2065373602"},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:p>Group specific component (Gc) is an abundant plasma protein whose functional role is not clearly established. Gc protein is synthesised in the liver and is known to bind vitamin D, vitamin D metabolites, and G actin; Gc protein is also implicated in macrophage activation. Several polymorphic electrophoretic variants of Gc protein are found in all human populations; the most common alleles are Gc-1f, Gc-1s, and Gc-2. In previous studies, Gc allele frequencies, determined using isoelectric focusing or immunofixation or both, were significantly different in patients with tuberous sclerosis complex (TSC) from matched controls, with an excess of Gc-2 in patients. Linkage association between Gc and TSC is unlikely since the Gc locus maps to chromosome 4q12, whereas the two common forms of TSC map to 9q34 and 16p13.1, respectively. However, a direct cause and effect relationship between Gc protein and TSC symptoms is possible. To investigate further the relationship between the Gc locus and TSC, two Gc restriction site polymorphisms, HaeIII and StyI, were typed in 43 unrelated white subjects with TSC. The frequencies of the restriction site polymorphisms in the TSC patients did not differ from those in control populations. Therefore a direct association between Gc type and TSC is unlikely. The previously reported association was either spurious or the result of typing errors in plasma from subjects with underlying abnormalities in plasma proteins.<\/jats:p>","DOI":"10.1136\/jmg.34.6.509","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"509-511","source":"Crossref","is-referenced-by-count":1,"title":["Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC)."],"prefix":"10.1136","volume":"34","author":[{"given":"J A","family":"Rodriguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R L","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S P","family":"Daiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,6,1]]},"reference":[{"key":"ref_1","article-title":"Tuberous sclerosis","author":"Gomez, M.R.","year":"1988","unstructured":"Gomez MR, ed. Tuberous sclerosis. 2nd ed. New York: Raven Press, 1988.","edition":"2nd ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/jmg.30.1.41","article-title":"Variability of expression in tuberous sclerosis","volume":"30","author":"Northrup, H.; Wheless, J.W.; Bertin, T.K.; Lewis, R.A.","year":"1993","unstructured":"Northrup H, Wheless JW, Bertin TK, Lewis RA. Variability of expression in tuberous sclerosis. _7 Med Genet 1993;30: 41-3.","journal-title":"_7 Med Genet"},{"key":"ref_3","first-page":"709","article-title":"Evidence for genetic heterogeneity in tuberous sclerosis: one locus","volume-title":"least one locus elsewhere. Am.7 Hum Genet","volume":"51","author":"Northrup, H.; Kwiatkowski, D.J.; Roach, E.S.","year":"1992","unstructured":"Northrup H, Kwiatkowski DJ, Roach ES, et al. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am.7 Hum Genet 1992;51:709-20."},{"key":"ref_4","first-page":"659","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"i:","author":"Fryer, A.C.; Chalmers, A.; Connor, J.M.","year":"1987","unstructured":"Fryer AC, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;i:659-61.","journal-title":"Lancet"},{"key":"ref_5","first-page":"93121","article-title":"mapping","volume":"9","author":"Kwiatkowski, D.; Armour, J.; Bale, A.","year":"1993","unstructured":"Kwiatkowski D, Armour J, Bale A, et al. Report and abstracts of the second international workshop on human chromosome 9 mapping. Cytogenet Cell Genet 1993;64:93121.","journal-title":"Report and abstracts of the second international workshop on human chromosome; Cytogenet Cell Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1136\/jmg.33.7.559","article-title":"Report of a critical recombination further narrowing the TSC 1 region","volume":"33","author":"Au, K.S.; Murrell, J.; Buckler, A.; Blanton, S.H.; Northrup, H.","year":"1996","unstructured":"Au KS, Murrell J, Buckler A, Blanton SH, Northrup H. Report of a critical recombination further narrowing the TSC 1 region. J Med Genet 1996;33:559-61.","journal-title":"J Med Genet"},{"key":"ref_7","first-page":"3741","article-title":"Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease","volume":"2","author":"Kandt, R.S.; Haines, J.L.; Smith, M.","year":"1992","unstructured":"Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992;2:3741.","journal-title":"Nat Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","year":"1993","unstructured":"The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.","journal-title":"Cell"},{"article-title":"Mutations and polymorphisms in tuberous sclerosis complex gene on chromosome 16","author":"Au, K.S.; Rodriguez, J.A.; E, Jr, Rodriguez; Dobyns, W.B.; Delgado, M.R.; Northrup, H.","key":"ref_9","unstructured":"Au KS, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H. Mutations and polymorphisms in tuberous sclerosis complex gene on chromosome 16. Hum Mutat (in press)."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1093\/hmg\/4.12.2295","article-title":"Mutation analysis of the TSC2 gene in an African-American family","volume":"4","author":"Kumar, A.; Kandt, R.S.; Wolpert, C.; Roses, A.D.; Pericak-Vance, M.A.; Gilbert, JR","year":"1995","unstructured":"Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR. Mutation analysis of the TSC2 gene in an African-American family. Hum Mol Genet 1995;4:2295-8.","journal-title":"Hum Mol Genet"},{"key":"ref_11","first-page":"14712","article-title":"A de novo frame-shift mutation in the tuberin gene","volume":"4","author":"Kumar, A.; Wolpert, C.; Kandt, R.S.","year":"1995","unstructured":"Kumar A, Wolpert C, Kandt RS, et al. A de novo frame-shift mutation in the tuberin gene. Hum Mol Genet 1995;4:14712.","journal-title":"Hum Mol Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/5.2.249","article-title":"Novel mutation detected in the TSC2 gene from both sporadic and familial TSC patients","volume":"5","author":"Wilson, P.J.; Ramesh, V.; Kristiansen, A.","year":"1996","unstructured":"Wilson PJ, Ramesh V, Kristiansen A, et al. Novel mutation detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 1996;5:249-56.","journal-title":"Hum Mol Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/BF00283499","article-title":"Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems","volume":"27","author":"Rundle, A.T.; Atkin, J.; Sudell, B.","year":"1975","unstructured":"Rundle AT, Atkin J, Sudell B. Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems. Humangenetik 1975;27: 15-22.","journal-title":"Humangenetik"},{"key":"ref_14","first-page":"401","article-title":"Molecular analysis of the gene for the human vitamin-D-binding protein (groupspecific component): allelic differences of the common genetic Gc types","volume":"89","author":"Braun, A.; Bichlmaier, R.; Cleve, H.","year":"1992","unstructured":"Braun A, Bichlmaier R, Cleve H. Molecular analysis of the gene for the human vitamin-D-binding protein (groupspecific component): allelic differences of the common genetic Gc types. Hum Genet 1992;89:401-6.","journal-title":"Hum Genet"},{"key":"ref_15","first-page":"221","article-title":"Report of the diagnostic criteria committee of the national tuberous sclerosis association","volume":"7","author":"Roach, E.S.; Smith, M.; Huttenlocher, P.; Bhat, M.; Aleorn, D.; Hawley, L.","year":"1992","unstructured":"Roach ES, Smith M, Huttenlocher P, Bhat M, Aleorn D, Hawley L. Report of the diagnostic criteria committee of the national tuberous sclerosis association. _7 Child Neurol 1992;7:221-4.","journal-title":"_7 Child Neurol"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/ajmg.1320310320","article-title":"Prenatal detection of 46, XY, rec(5), dup q, inv(5)(pl3q13) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis","volume":"31","author":"Martin, A.O.; Northrup, H.; Ledbetter, D.H.","year":"1988","unstructured":"Martin AO, Northrup H, Ledbetter DH, et al. Prenatal detection of 46,XY,rec(5),dup q,inv(5)(pl3q13) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. Am _7 Med Genet 1988;31:643-54.","journal-title":"Am _7 Med Genet"},{"key":"ref_17","article-title":"Molecular evolutionary genetics","author":"Nei, M.","year":"1987","unstructured":"Nei M. Molecular evolutionary genetics. New York: Columbia University Press, 1987."},{"key":"ref_18","first-page":"1335","article-title":"The extracellular actin-scavenger system and actin toxicity","volume":"326","author":"Lee, W.M.; Galbraith, R.M.","year":"1992","unstructured":"Lee WM, Galbraith RM. The extracellular actin-scavenger system and actin toxicity. NEngl7Med 1992;326:1335-41."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.6.509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:46:52Z","timestamp":1760726812000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.6.509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":18,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1997,6,1]]},"published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1136\/jmg.34.6.509"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.6.509","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}