{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:07:56Z","timestamp":1780916876430,"version":"3.54.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004586","name":"Funda\u00e7\u00e3o Carlos Chagas Filho de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004586","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011919","name":"Universidade Federal do Estado do Rio de Janeiro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011919","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Huntington disease (HD) (MIM: 143100) is a severe autosomal dominant neurodegenerative disease caused by the expansion of CAG trinucleotides (&gt;35) in the\n                      <jats:italic>HTT<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the frequency of intermediate CAG alleles (IAs) in individuals residing in Rio de Janeiro city with no familial history of HD (general population, GP) in comparison with a sample of individuals from families presenting with HD who were previously investigated by our group (affected sample, AS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The frequency of normal CAG alleles was 96.2%, while that of IAs was 3.6%, and that of reduced penetrance alleles was 0.2% in the GP (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0470 chromosomes); 7.2% (17\/235 individuals) of the GP presented an IA in heterozygosis with a normal allele. There was no statistically significant difference between the frequencies of the IAs in the GP and in the AS (\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a0.9). The most frequent haplotype per normal allele was (CAG)17\u2010(CCG)7 (101\/461) and per IA was (CAG)27\u2010(CCG)7 (6\/17) in the GP. These haplotypes were also the most frequent in the normal and IA chromosomes of the AS, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The genetic profiles of the IAs obtained from GP and AS were rather similar. It is important to investigate the frequencies of the IAs because expansions arise from a step\u2010by\u2010step mechanism in which, during intergenerational transmission, large normal alleles can generate IAs, which are then responsible for generating de novo HD mutations. The genetic investigation of IAs in the GP was also important because it was focused on the population of Rio de Janeiro, an understudied group. CCG7 was the most frequent CCG allele in linkage disequilibrium with normal, intermediate, and expanded CAG alleles, similar to the Western Europe population. However, a more robust investigation, in conjunction with haplogroup determination (A, B, or C), will be required to elucidate the ancestral origin of the\n                      <jats:italic>HTT<\/jats:italic>\n                      mutations in Brazilians.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1181","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T00:12:06Z","timestamp":1581984726000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Investigation of intermediate CAG alleles of the\n                    <i>HTT<\/i>\n                    in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease\u2010affected families"],"prefix":"10.1002","volume":"8","author":[{"given":"Thays A.","family":"Apolin\u00e1rio","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Neurologia Universidade Federal do Estado do Rio de Janeiro (UNIRIO) Rio de Janeiro RJ Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iane dos Santos","family":"da Silva","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Biologia Molecular e Celular Universidade Federal do Estado do Rio de Janeiro (UNIRIO) Rio de Janeiro RJ Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5604-8386","authenticated-orcid":false,"given":"Luciana de Andrade","family":"Agostinho","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Neurologia Universidade Federal do Estado do Rio de Janeiro (UNIRIO) Rio de Janeiro RJ Brazil"},{"name":"Centro Universit\u00e1rio FAMINAS \u2013 UNIFAMINAS Muria\u00e9 MG Brazil"},{"name":"Funda\u00e7\u00e3o Cristiano Varella\u2010Hospital do C\u00e2ncer Muria\u00e9 MG Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2877-0296","authenticated-orcid":false,"given":"Carmen L. A.","family":"Paiva","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Neurologia Universidade Federal do Estado do Rio de Janeiro (UNIRIO) Rio de Janeiro RJ Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Biologia Molecular e Celular Universidade Federal do Estado do Rio de Janeiro (UNIRIO) Rio de Janeiro RJ Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,17]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Agostinho L. de A.(2011).Investiga\u00e7\u00e3o Molecular Inter e Intrageracional das Repeti\u00e7\u00f5es Trinucleot\u00eddicas CAG e CCG em Pacientes Afetados e Grupo de Risco da Doen\u00e7a de Huntington. M.Sc. Thesis.Universidade Federal do Estado do Rio De Janeiro."},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000434630"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.120"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4238\/gmr16029648"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.002"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20684"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.47.1.201"},{"key":"e_1_2_8_9_1","first-page":"234","article-title":"A polymorphic DNA marker genetically linked to Huntington disease","volume":"83","author":"Gusella J. F.","year":"1983","journal-title":"Macmillan Journals"},{"issue":"26","key":"e_1_2_8_10_1","first-page":"1001","article-title":"Huntington\u2019s chorea on the island of Mauritius","volume":"60","author":"Hayden M. 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