{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:16:26Z","timestamp":1760832986890,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,1]]},"abstract":"<jats:p>Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unknown. We have previously mapped the SD gene to 6q14-q15 by means of genetic linkage analysis and restricted the positive chromosomal area to less than 100 kb with linkage disequilibrium mapping. The two best allelic association markers have now retrospectively been used in five prenatal analyses originally studied with sialic acid assays in chorionic villus specimens. In four cases an unaffected fetus was predicted with a probability level of more than 94%, which was in concordance with the biochemical data. One fetus was predicted to be affected with over 96% probability, as was shown by free sialic acid assays in a CVS sample and in fetal tissues after termination of the pregnancy. Risk calculations incorporating disequilibrium were also used to predict the carrier status in members of six families with previous SD cases, and also in a few cases with no known family history of SD. DNA marker based analysis thus provides a reliable method for risk estimations in prenatal cases and for carrier identification of SD.<\/jats:p>","DOI":"10.1136\/jmg.33.1.36","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"36-41","source":"Crossref","is-referenced-by-count":9,"title":["Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease."],"prefix":"10.1136","volume":"33","author":[{"given":"J","family":"Schleutker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Sistonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Aula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1126\/science.3961501","article-title":"Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease","volume":"323","author":"Renlund, M.; Tietze, F.; Gahl, W.A.","year":"1986","unstructured":"Renlund M, Tietze F, Gahl WA. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science 1986;323:759-62.","journal-title":"Science"},{"key":"ref_2","first-page":"1329","article-title":"Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides","volume":"87","author":"Mancini, G.M.S.; Beerens, C.E.M.T.; Aula, P.; Verheijen, F.W.","year":"1991","unstructured":"Mancini GMS, Beerens CEMT, Aula P, Verheijen FW. Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. _7 Clin Invest 1991;87: 1329-35."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1212\/WNL.33.1.57","article-title":"Salla disease: a new lysosomal storage disorder of disturbed sialic acid metabolism","volume":"33","author":"Renlund, M.; Aula, P.; Raivio, K.O.","year":"1983","unstructured":"Renlund M, Aula P, Raivio KO, et al. Salla disease: a new lysosomal storage disorder of disturbed sialic acid metabolism. Neurology 1983;33:57-66.","journal-title":"Neurology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1001\/archneur.1979.00500380058006","article-title":"\"Salla disease\": a new lysosomal storage disorder","volume":"36","author":"Aula, P.; Autio, S.; Raivio, K.O.","year":"1979","unstructured":"Aula P, Autio S, Raivio KO, et al. \"Salla disease\": a new lysosomal storage disorder. Arch Neurol 1979;36:88-94.","journal-title":"Arch Neurol"},{"key":"ref_5","first-page":"232","article-title":"Clinical and laboratory diagnosis of Salla disease in infancy and childhood","volume":"104","author":"Renlund, M.","year":"1984","unstructured":"Renlund M. Clinical and laboratory diagnosis of Salla disease in infancy and childhood. _7 Pediatr 1984;104:232-6."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1006\/geno.1995.1044","article-title":"Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6ql4-ql5","volume":"27","author":"Schleutker, J.; Laine, A.P.; Haataja, L.","year":"1995","unstructured":"Schleutker J, Laine AP, Haataja L, et al. Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6ql4-ql5. Genomics 1995: 27:286-92.","journal-title":"Genomics"},{"key":"ref_7","first-page":"320","article-title":"Salla disease in one non-Finnish patient","volume":"146","author":"Echenne, B.; Vidal, M.; Maire, I.; Michalski, J.C.; Baldet, P.; Astruc, J.","year":"1986","unstructured":"Echenne B, Vidal M, Maire I, Michalski JC, Baldet P, Astruc J. Salla disease in one non-Finnish patient. Eur]_ Pediatr 1986;146:320-2.","journal-title":"Eur]_ Pediatr"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1007\/BF00441499","article-title":"Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings","volume":"139","author":"Tondeur, M.; Libert, J.; Vamos, E.; Van Hoof, F.; Thomas, G.H.; Strecker, G.","year":"1982","unstructured":"Tondeur M, Libert J, Vamos E, Van Hoof F, Thomas GH, Strecker G. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Eur. Pediatr 1982; 139:142-7.","journal-title":"Eur. Pediatr"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.1320280216","article-title":"Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes","volume":"28","author":"Renlund, M.; Aula, P.","year":"1987","unstructured":"Renlund M, Aula P. Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. Am J7Med Genet 1987;28:377-84.","journal-title":"Am J7Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/pd.1970060607","article-title":"Prenatal diagnosis and confirmation of infantile sialic acid storage disease","volume":"6","author":"Vamos, E.; Libert, J.; Elkhazen, N.","year":"1986","unstructured":"Vamos E, Libert J, Elkhazen N, et al. Prenatal diagnosis and confirmation of infantile sialic acid storage disease. Preniat Diagn 1986;6:437-46.","journal-title":"Preniat Diagn"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1007\/BF01800055","article-title":"Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families","volume":"1","author":"Clements, P.R.; Taylor, J.A.; Hopwood, J.J.","year":"1988","unstructured":"Clements PR, Taylor JA, Hopwood JJ. Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. Inher Metab Dis 1988;l1:30-44.","journal-title":"Inher Metab Dis"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1007\/BF01800718","article-title":"Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancv","volume":"12","author":"Lake, B.D.; Young, E.P.; Nicolaides, K.","year":"1989","unstructured":"Lake BD, Young EP, Nicolaides K. Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancv. 7 Inher Metab Dis 1989;12:152-6.","journal-title":"7 Inher Metab Dis"},{"key":"ref_13","first-page":"1042","article-title":"The genetic locus for free sialic acid storage diseases maps to the long arm","volume-title":"of chromosome 6. Ani _7 Humn Genet 1994,54","author":"Haataja, L.; Schleutker, J.; Laine, A.P.","unstructured":"Haataja L, Schleutker J, Laine AP, et al. The genetic locus for free sialic acid storage diseases maps to the long arm of chromosome 6. Ani _7 Humn Genet 1994,54: 1042-9."},{"issue":"1","key":"ref_14","first-page":"4","article-title":"Lysosomal free sialic acid storage disorders with different phenotypic presentations, ISSD and Salla disease, represent allelic disorders","volume":"6","author":"Schleutker, J.; Leppanen, P.; Mansson, J.E.","year":"]","unstructured":"Schleutker J, Leppanen P, Mansson JE, et al. Lysosomal free sialic acid storage disorders with different phenotypic presentations, ISSD and Salla disease, represent allelic disorders on 6q1 4-15. Anm ] Humrn Genieti (in press).","journal-title":"on"},{"key":"ref_15","first-page":"2964","article-title":"Southern blot analysis of DNA extracted from formalin-fixed pathology specimens","volume":"46","author":"Dubeau, L.; Chandler, L.A.; Gralow, JR, Nichols; PW, Jones; P.A.","year":"1986","unstructured":"Dubeau L, Chandler LA, Gralow JR, Nichols PW, Jones PA. Southern blot analysis of DNA extracted from formalin-fixed pathology specimens. Canicer Res 1986;46:2964-9.","journal-title":"Canicer Res"},{"key":"ref_16","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6."},{"key":"ref_17","first-page":"265","article-title":"Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers..7 Med","volume":"30","author":"Hastbacka, J.; Salonen, R.; Laurila, P.; de la Chapelle, A.; Kaitila, I.","year":"1993","unstructured":"Hastbacka J, Salonen R, Laurila P, de la Chapelle A, Kaitila I. Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers..7 Med Getnet 1993;30:265-8.","journal-title":"Getnet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000472399","article-title":"A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification","volume":"1","author":"Vesa, J.; Hellsten, E.; Makela, T.P.","year":"1993","unstructured":"Vesa J, Hellsten E, Makela TP, et al. A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification. Eur] Hum Genet 1993;1:125-32.","journal-title":"Eur] Hum Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/pd.1970150205","article-title":"Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers","volume":"15","author":"Sulisalo, T.; Sillence, D.; Wilson, M.; Ryynanen, M.; Kaitila, I.","year":"1995","unstructured":"Sulisalo T, Sillence D, Wilson M, Ryynanen M, Kaitila I. Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers. Prenat Diagn 1995;15: 135-40.","journal-title":"Prenat Diagn"},{"key":"ref_20","first-page":"365","article-title":"Screening of inherited oligosaccharidurias among mentally retarded patients","volume-title":"Northern Finland. _7 Ment Defic Res","volume":"30","author":"Aula, P.; Renlund, M.; Raivio, K.","year":"1986","unstructured":"Aula P, Renlund M, Raivio K. Screening of inherited oligosaccharidurias among mentally retarded patients in Northern Finland. _7 Ment Defic Res 1986;30:365-8."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1136\/jmg.30.10.857","article-title":"Disease gene mapping in isolated human populations: the example of","volume":"30","author":"la Chapelle A, De","year":"1993","unstructured":"De la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. _7 Med Genet 1993; 30:857-65.","journal-title":"Finland. _7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.1.36","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:37:31Z","timestamp":1760769451000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.1.36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,1]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1996,1,1]]},"published-print":{"date-parts":[[1996,1]]}},"alternative-id":["10.1136\/jmg.33.1.36"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.1.36","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,1]]}}}