The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation

被引：0

作者：

Munkhuu, Purevdorj ^{[1
]}

Bazarragchaa, Munkhtsetseg ^{[1
]}

Ichinkhorloo, Purevdorj ^{[1
]}

Yoo, Ki-Young ^{[2
]}

Ayush, Enkh-Amar ^{[3
]}

Batjargal, Ochbadrakh ^{[1
]}

Namjil, Erdenebayar ^{[4
]}

Jav, Sarantuya ^{[1
]}

Purevdorj, Erkhembulgan ^{[1
]}

Lkhagvasuren, Sodnomtsogt ^{[5
]}

机构：

[1] Mongolian Natl Univ Med Sci, Sch Biomed, Dept Mol Biol & Genet, S Zorig St, Ulaanbaatar 14210, Mongolia

[2] Korean Hemophilia Fdn, Hematol, Seoul, South Korea

[3] Mongolian Natl Univ Med Sci, Sch Med, Dept Gastroenterol, Ulaanbaatar, Mongolia

[4] Natl Ctr Transfus Med, Peace Ave, Ulaanbaatar, Mongolia

[5] Mongolian Natl Univ Med Sci, Div Sci & Technol, S Zorig St, Ulaanbaatar 14210, Mongolia

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2024年 / 12卷 / 09期

关键词：

carrier; F9; hemophilia B; Mongolia; FACTOR-IX GENE; SEQUENCE VARIANTS; F9; GENE; POPULATION; CARRIERS; COHORT;

D O I：

10.1002/mgg3.2495

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: This study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia. Methods: 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. Results: Two families had a history of HB. A total of five different variants (c.223C > T; c.344A> G; c.464G > C; 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 F9 was found in two patients with mild HB. Nonsense c.223C > T (p.Arg75*) mutation was detected in two unrelated patients. Carrier testing identified five mothers as carriers, while one younger sister was a non- carrier. 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. Conclusion: 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.

引用

页数：10

共 35 条

[21] The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers [J].