单位：[1]Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, China.[2]Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.内科学系血液内科华中科技大学同济医学院附属同济医院[3]Department of Medicine, Case Western Reserve University, Cleveland, Ohio.[4]Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.
The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samples), and 4 cases of frameshift (2 cases of deletion, 1 case of insertion, 1 case of single-base duplication). With the exception of the single-base G duplication variant (p.Ile1213Asnfs*28), this was the hotspot variant reported by research groups at an early stage. The remaining variants were found, for the first time, in the region. The missense variants p.Cys172Ser, p.Tyr404Ser, p.Asp1903Gly, and p.Ser2284Asn, the deletion variant p.Leu2249fs*9, and the insertion variant p.Pro2319fs*97 were novel variants. The application of next-generation sequencing (NGS) molecular diagnosis enriched the variant spectrum of HA, which is greatly significant for individualized genetic counseling, clinical diagnosis, and treatment. NGS and a variety of bioinformatics prediction methods can further analyze the impact of genetic variation on protein structure or function and lay the foundation to reveal the molecular pathogenic mechanism of novel variants.The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).
基金：
This research was funded by Shanxi Provincial Key Research
and Development Project (No. 201903D321133),
the Basic Research Project of Shanxi Province (No.
20210302124037, No. 20210302123295), and Shanxi
Bethune Talent Foundation Project (No. 2021RC017, No.
2021RC038).
第一作者单位：[1]Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, China.[2]Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
通讯作者：
通讯机构：[1]Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, China.[2]Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.[4]Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.[*1]Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan 030032, China[*2]Department of Hematology, The Second Hospital of Shanxi Medical University, No. 382 Wuyi Road, Taiyuan, Shanxi, 030001, China
推荐引用方式(GB/T 7714)：
Zhang Xialin,Chen Kun,Bian Sicheng,et al.Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China[J].GLOBAL MEDICAL GENETICS.2023,10(03):247-262.doi:10.1055/s-0043-1774322.
APA：
Zhang Xialin,Chen Kun,Bian Sicheng,Wang Gang,Qin Xiuyu...&Yang Linhua.(2023).Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China.GLOBAL MEDICAL GENETICS,10,(03)
MLA：
Zhang Xialin,et al."Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China".GLOBAL MEDICAL GENETICS 10..03(2023):247-262
