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蒙古 8 个血友病 B 家系的遗传学分析：两种新突变的鉴定。

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

机构信息

Department of Molecular Biology and Genetics, School of Bio-Medicine, Mongolian National University of Medical Science, Ulaanbaatar, Mongolia.

Hematology, Korean Hemophilia Foundation, Seoul, South Korea.

出版信息

Mol Genet Genomic Med. 2024 Sep;12(9):e2495. doi: 10.1002/mgg3.2495.

DOI:10.1002/mgg3.2495
PMID:39268837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11393770/
Abstract

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.

摘要

背景

本研究旨在对蒙古的乙型血友病（HB）患者及其携带者进行分子诊断。

方法

从八个家庭中招募了 8 名（6 名重度，2 名轻度）HB 患者及其 12 名女性亲属。进行了 Sanger 测序以鉴定突变。通过问卷调查评估女性亲属的携带者症状。

结果

两个家庭有 HB 病史。在六名重度 HB 患者中发现了五种不同的变体（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）为新变体。两名轻度 HB 患者的整个 F9 中均未发现任何变体。在两名无关联的患者中检测到无义突变 c.223C > T（p.Arg75*）。携带者检测鉴定出五位母亲为携带者，而一位妹妹是非携带者。两名轻度患者的六位女性亲属的携带者状态仍不确定。通过问卷调查，仅发现五位基因鉴定的携带者中的一位有明显的携带者症状。

结论

新变体 c.187_188del 和 c.1314_1314delA 可导致严重的乙型血友病。本研究未观察到五种携带者中症状与携带者状态之间存在显著关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1471/11393770/aa6aa2a3de7c/MGG3-12-e2495-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1471/11393770/2e865a38fd91/MGG3-12-e2495-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1471/11393770/aa6aa2a3de7c/MGG3-12-e2495-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1471/11393770/2e865a38fd91/MGG3-12-e2495-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1471/11393770/aa6aa2a3de7c/MGG3-12-e2495-g001.jpg

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Int J Mol Sci. 2022 Mar 2;23(5):2762. doi: 10.3390/ijms23052762.
2
Mutation analysis and characterisation of gene in haemophilia- B population of India.印度血友病B患者群体中基因的突变分析与特征研究
Blood Res. 2021 Dec 31;56(4):252-258. doi: 10.5045/br.2021.2021016.
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The Clinical Genetics of Hemophilia B (Factor IX Deficiency).B型血友病（因子IX缺乏症）的临床遗传学
Appl Clin Genet. 2021 Nov 23;14:445-454. doi: 10.2147/TACG.S288256. eCollection 2021.
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WFH Guidelines for the Management of Hemophilia, 3rd edition.《血友病管理的居家指南》第三版
Haemophilia. 2020 Aug;26 Suppl 6:1-158. doi: 10.1111/hae.14046. Epub 2020 Aug 3.
5
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.欧洲血友病和相关疾病协会（EAHAD）凝血因子变异数据库：为止血临床医生和研究人员提供的重要资源。
Haemophilia. 2020 Mar;26(2):306-313. doi: 10.1111/hae.13947. Epub 2020 Mar 13.
6
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Mol Genet Genomic Med. 2020 May;8(5):e1210. doi: 10.1002/mgg3.1210. Epub 2020 Mar 10.
7
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.应用高分辨率熔解曲线分析技术检测血友病 B 患者 F9 基因突变。
Blood Transfus. 2019 Jan;17(1):72-82. doi: 10.2450/2018.0262-17. Epub 2018 Feb 28.
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update.《人类基因组变异协会（HGVS）序列变异描述建议：2016年更新》
Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.
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The past and future of haemophilia: diagnosis, treatments, and its complications.血友病的过去和未来：诊断、治疗及其并发症。
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Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.瑞典B型血友病家族的突变分析——独特突变的高频率
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