对蒙古八个 B 型血友病家庭的基因分析：发现两种新型基因突变

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2024-09-13 DOI:10.1002/mgg3.2495

Purevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, Ki‐Young Yoo, Enkh‐Amar Ayush, Ochbadrakh Batjargal, Erdenebayar Namjil, Sarantuya Jav, Erkhembulgan Purevdorj, Sodnomtsogt Lkhagvasuren

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引用次数: 0

摘要

背景这项研究旨在对蒙古的 B 型血友病（HB）患者和血友病携带者进行分子诊断。方法从八个家庭中招募了八名 B 型血友病患者（六名重度，两名轻度）及其 12 名女性亲属。对基因突变进行了 Sanger 序列鉴定。结果两个家庭有 HB 病史。在 6 名重症 HB 患者中，共发现了 5 个不同的变异基因（c.223C > T; c.344A >G;c.464G >C;c.187_188del;和 c.1314_1314delA）。其中，两个（c.187_188del 和 c.1314_1314delA）是新发现的。在两名轻度 HB 患者中未发现整个 F9 的变异。在两名无亲属关系的患者中发现了无义 c.223C > T (p.Arg75*) 突变。携带者检测发现五位母亲为携带者，一位妹妹为非携带者。两名轻度患者的六名女性亲属的携带者身份仍未确定。结论 c.187_188del和c.1314_1314delA新型变异可导致严重的血友病B。

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

BackgroundThis study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia.MethodsEight 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.ResultsTwo 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.ConclusionThe 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.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.