{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:10:05Z","timestamp":1760731805341,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,1]]},"abstract":"<jats:p>Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. We identified three polymorphic markers in the GDE gene using single strand conformation polymorphism (SSCP) analysis and DNA sequencing. They were -10G\/A in the 5' non-translated region of exon 3,2001 + 8C\/T in intron 16, and 3199C\/T (P1067S) in exon 25. Two polymorphic markers (-10G\/A and 2001 + 8C\/T) were highly informative in both controls and GSD-III patients with heterozygosity values of 0.50 and 0.46, respectively. The third marker (3199C\/T) had a heterozygosity value of 0.26. Restriction analysis of the PCR amplified genomic DNA products in two GSD-III families showed for the first time the potential use of these markers for carrier detection and prenatal diagnosis in this disease.<\/jats:p>","DOI":"10.1136\/jmg.34.1.34","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"34-38","source":"Crossref","is-referenced-by-count":15,"title":["Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III."],"prefix":"10.1136","volume":"34","author":[{"given":"J","family":"Shen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H M","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Bao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y T","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0005-2744(72)90112-X","article-title":"Preparation and properties of the glycogen-debranching enzyme from rabbit liver","volume":"289","author":"Gordon, R.B.; Brown, D.H.; Brown, B.I.","year":"1972","unstructured":"Gordon RB, Brown DH, Brown BI. 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Arch Biochenzi Biophys 1993; 306:1-8.","journal-title":"Arch Biochenzi Biophys"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0888-7543(92)90003-B","article-title":"Assignment of the human glycogen debrancher gene to chromosome lp2l","volume":"13","author":"Yang-Feng, T.L.; Zheng, K.; Yu, J.; Yang, B.Z.; Chen, Y.T.; Kao, F.T.","year":"1992","unstructured":"Yang-Feng TL, Zheng K, Yu J, Yang BZ, Chen YT, Kao FT. Assignment of the human glycogen debrancher gene to chromosome lp2l. Genonmics 1992;13:931-4.","journal-title":"Genonmics"},{"key":"ref_8","first-page":"662","article-title":"Structural organization of the multifunctional human glycogen debrancher gene","volume":"53","author":"Bao, Y.; Yang, B.Z.; Chen, Y.T.","year":"1993","unstructured":"Bao Y, Yang BZ, Chen YT. Structural organization of the multifunctional human glycogen debrancher gene. Anm 7 Hum Genet 1993;53:662A.","journal-title":"Anm 7 Hum Genet"},{"article-title":"A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with GSD type IIIa","author":"Shen, J.; Bao, Y.; Chen, Y.T.","key":"ref_9","unstructured":"Shen J, Bao Y, Chen YT. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with GSD type IIIa. Hum1 Mutat (in press)."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/0009-8981(85)90326-2","article-title":"Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: preand postnatal diagnosis of glycogenosis type III","volume":"149","author":"van Diggelen OP; HC, Janse; GPA, Smit","year":"1985","unstructured":"van Diggelen OP, Janse HC, Smit GPA. 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First trimester prenatal diagnosis of glycogen storage disease type III..7 Inherited Metabol Dis 1989;12(suppl 2):292-4."},{"issue":"207-1","key":"ref_13","first-page":"0","article-title":"RFLPs for linkage analysis in families with glycogen storage disease type III","volume":"18","author":"Mishori-Dery, A.; Bashan, N.; Moses, S.","year":"1995","unstructured":"Mishori-Dery A, Bashan N, Moses S, et al. RFLPs for linkage analysis in families with glycogen storage disease type III. _7 Inherited Metabol Dis 1995; 18:207-1 0.","journal-title":"_7 Inherited Metabol Dis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.1.34","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:44:39Z","timestamp":1760730279000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.1.34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1997,1,1]]},"published-print":{"date-parts":[[1997,1]]}},"alternative-id":["10.1136\/jmg.34.1.34"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.1.34","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,1]]}}}