{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:54Z","timestamp":1753869714482,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T00:00:00Z","timestamp":1726185600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019122","name":"Mongolian Foundation for Science and Technology","doi-asserted-by":"publisher","award":["L2766\u2010Mon\/\u211655"],"award-info":[{"award-number":["L2766\u2010Mon\/\u211655"]}],"id":[{"id":"10.13039\/100019122","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":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight patients (six severe, two mild) with HB and their 12 female relatives were enrolled from eight families. Sanger sequence was performed for mutation identification. The questionnaire survey was conducted to evaluate carrier symptoms in female relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two families had a history of HB. A total of five different variants (c.223C\u2009&gt;\u2009T; c.344A\u2009&gt;\u2009G; c.464G\u2009&gt;\u2009C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire <jats:italic>F9<\/jats:italic> was found in two patients with mild HB. Nonsense c.223C\u2009&gt;\u2009T (p.Arg75*) mutation was detected in two unrelated patients. Carrier testing identified five mothers as carriers, while one younger sister was a non\u2010carrier. The carrier status of six female relatives of the two mild patients remained undetermined. By questionnaire survey, only one of the five genetically identified carriers displayed noticeable symptoms of being a carrier.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The novel variants c.187_188del and c.1314_1314delA can cause severe hemophilia B. This study did not observe a significant association between symptoms and carrier status in the five carriers.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2495","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T12:44:04Z","timestamp":1726231444000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4259-5087","authenticated-orcid":false,"given":"Purevdorj","family":"Munkhuu","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munkhtsetseg","family":"Bazarragchaa","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purevdorj","family":"Ichinkhorloo","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki\u2010Young","family":"Yoo","sequence":"additional","affiliation":[{"name":"Hematology Korean Hemophilia Foundation  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enkh\u2010Amar","family":"Ayush","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, School of Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ochbadrakh","family":"Batjargal","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdenebayar","family":"Namjil","sequence":"additional","affiliation":[{"name":"National Center for Transfusion Medicine  Peace Avenue Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarantuya","family":"Jav","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0954-0519","authenticated-orcid":false,"given":"Erkhembulgan","family":"Purevdorj","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, School of Bio\u2010Medicine Mongolian National University of Medical Science  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0351-232X","authenticated-orcid":false,"given":"Sodnomtsogt","family":"Lkhagvasuren","sequence":"additional","affiliation":[{"name":"Division for Science and Technology Mongolian National University of Medical Sciences  Ulaanbaatar Mongolia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"issue":"5","key":"e_1_2_14_2_1","first-page":"635","article-title":"Molecular genotyping of the Italian cohort of patients with hemophilia B","volume":"90","author":"Belvini D.","year":"2005","journal-title":"Haematologica"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.4799.1378"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13405-8"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118398258.ch1"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.08.038"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2007.01649.x"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2004.00756.x"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118398258.ch13"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12958"},{"key":"e_1_2_14_12_1","unstructured":"Human Genome Mutation Society. 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