{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:10:16Z","timestamp":1699830616198},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Serum and\/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase \u03b1\u2010N\u2010acetyl\u2010D\u2010glucosaminidase (NAG). The samples from the Blacks had an increased mean (0.50 nm\/ml\/min) and standard deviation (0.30 nm\/ml\/min) compared to those from the Whites (0.29 nm\/ml\/min and 0.10 nm\/ml\/min, respectively). After log<jats:sub>e<\/jats:sub> transformation and admixture analysis, it was possible to demonstrate the presence of 3 distributions of NAG activity in Blacks and at least 2 in Whites. Segregation analysis of the NAG activity of 29 White half\u2010sib twin families indicated that a genetic model for the inheritance of NAG activity provided a better fit (P &lt; 0.01) with the data than the \u201cenvironmental\u201d model. Thus, the study suggests the presence of a genetic polymorphism for NAG activity in Black <jats:italic>and<\/jats:italic> White populations. The presence of alleles for high and low NAG activity in the normal population could lead to incorrect interpretation of serum carrier tests for Sanfilippo syndrome, type B.<\/jats:p>","DOI":"10.1002\/ajmg.1320070207","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:38:10Z","timestamp":1118511490000},"page":"131-140","source":"Crossref","is-referenced-by-count":6,"title":["Evidence of genetic variation for \u03b1\u2010N\u2010acetyl\u2010D\u2010glucosaminidase in black and white populations: A new polymorphism"],"prefix":"10.1002","volume":"7","author":[{"given":"J. M.","family":"Vance","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Pericak\u2010Vance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C.","family":"Elston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. M.","family":"Conneally","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. K.","family":"Namboodiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. S.","family":"Wappner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. L.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152448"},{"key":"e_1_2_1_3_1","first-page":"13","article-title":"Studies on Blood and urine glucose in Seminole Indians: Indications for segregation of a major gene","volume":"26","author":"Elston RC","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"179","volume-title":"The Principles of Human Biochemical Genetics","author":"Harris H","year":"1975"},{"key":"e_1_2_1_5_1","series-title":"UNC Institute of Statistics Mimeo Series, Number 823","volume-title":"A subroutine package for maximum likelihood estimation (MAXLIK)","author":"Kaplan EB","year":"1972"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00048.x"},{"key":"e_1_2_1_7_1","unstructured":"VanceJM(1979):Genetic studies in Sanfilippo syndrome type B. Thesis. Indiana University Bloomington."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80222-7"},{"key":"e_1_2_1_9_1","first-page":"285","article-title":"Serum \u03b1N\u2010acetyl\u2010glucosaminidase: Determination, characterization and corrective activity in Sanfilippo B fibroblasts","volume":"7","author":"von Figura K","year":"1975","journal-title":"Klin Chem Klin Biochem"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320070207","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320070207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:36:51Z","timestamp":1699828611000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320070207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320070207"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320070207","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}