{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:11:04Z","timestamp":1774951864882,"version":"3.50.1"},"reference-count":15,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4758","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1986,6,27]]},"abstract":"<jats:p>Tay-Sachs disease patients of Ashkenazi Jewish and non-Jewish French Canadian origin are affected with a clinically identical form of this inherited disease. Both have a similar gene frequency for the disorder, which is tenfold higher than that found in the general population. Unlike other patients with the disease, who often display variation at the clinical or biochemical level, the absence of such differences between these two groups has prompted the idea that they may harbor the same mutation. In this report, a complementary DNA clone coding for the \u03b1 chain of human \u03b2-hexosaminidase has been used to analyze the genetic lesions in the \u03b1-chain locus of two patients with Tay-Sachs disease from each of these groups. On the basis of DNA hybridization analyses, the \u03b1-chain gene of the Ashkenazi patients appears intact while the \u03b1-chain gene of French Canadian patients has a 5\u2032 deletion of approximately 5 to 8 kilobases.<\/jats:p>","DOI":"10.1126\/science.3754980","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T20:28:52Z","timestamp":1160080132000},"page":"1646-1648","source":"Crossref","is-referenced-by-count":81,"title":["Different Mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs Disease"],"prefix":"10.1126","volume":"232","author":[{"given":"Rachel","family":"Myerowitz","sequence":"first","affiliation":[{"name":"Genetics and Biochemistry Branch, National Institute of Arthritis, Diabetes, and Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norman D.","family":"Hogikyan","sequence":"additional","affiliation":[{"name":"Genetics and Biochemistry Branch, National Institute of Arthritis, Diabetes, and Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","first-page":"161","volume":"18","year":"1977","unstructured":"ANDERMANN, E, PROG CLIN BIOL RES 18: 161 (1977).","journal-title":"PROG CLIN BIOL RES"},{"key":"e_1_2_1_2_1","first-page":"5759","volume":"78","year":"1981","unstructured":"BELL, G.I., POLYMORPHIC DNA REGION ADJACENT TO THE 5'-END OF THE HUMAN INSULIN GENE, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES 78: 5759 (1981).","journal-title":"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES"},{"key":"e_1_2_1_3_1","first-page":"95","volume":"31","year":"1979","unstructured":"BEUTLER, E, BIOCHEMICAL GENETICS OF THE HEXOSAMINIDASE SYSTEM IN MAN, AMERICAN JOURNAL OF HUMAN GENETICS 31: 95 (1979).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/0006-291X(84)90480-7","volume":"122","year":"1984","unstructured":"CHOMCZYNSKI, P, ALKALINE TRANSFER OF DNA TO PLASTIC MEMBRANE, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 122: 340 (1984).","journal-title":"BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/0003-2697(81)90296-7","volume":"112","year":"1981","unstructured":"DRETZEN, G, A RELIABLE METHOD FOR THE RECOVERY OF DNA FRAGMENTS FROM AGAROSE AND ACRYLAMIDE GELS, ANALYTICAL BIOCHEMISTRY 112: 295 (1981).","journal-title":"ANALYTICAL BIOCHEMISTRY"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1111\/j.1399-0004.1983.tb02241.x","volume":"24","year":"1983","unstructured":"HECHTMAN, P, A NEW FORM OF RESIDUAL HEXOSAMINIDASE ACTIVITY IN INFANTILE TAY SACHS DISEASE FIBROBLASTS, CLINICAL GENETICS 24: 206 (1983).","journal-title":"CLINICAL GENETICS"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1002\/j.1460-2075.1983.tb01567.x","volume":"2","year":"1983","unstructured":"KYTZIA, H.J., VARIANT OF GM2-GANGLIOSIDOSIS WITH HEXOSAMINIDASE-A HAVING A SEVERELY CHANGED SUBSTRATE-SPECIFICITY, EMBO JOURNAL 2: 1201 (1983).","journal-title":"EMBO JOURNAL"},{"key":"e_1_2_1_9_1","unstructured":"Maniatis T. 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