Journal of Shandong University (Health Sciences) ›› 2019, Vol. 57 ›› Issue (12): 57-61.doi: 10.6040/j.issn.1671-7554.0.2019.803

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Gene detection and analysis of 55 patients with hemophilia A in Shandong Province

ZHANG Wenhui1, CHEN Yun1, CHANG Yali1, ZHOU Yawei1, FANG Yunhai2, ZHANG Xinsheng2, GUO Nongjian1   

  1. 1. Department of Hematology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, Shandong, China;
    2. Hemophilia Treatment Center of Shandong Province, Blood Center of Shandong Province, Jinan 250013, Shandong, China
  • Published:2022-09-27

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Abstract: Objective To analyze the genetic mutation types of 55 patients with hemophilia A(HA)in Shandong Province, and explore its molecular mechanism. Methods The intron 22 inversion mutation of factor Ⅷ(FⅧ)in all patients was detected with LD-PCR. The 26 exons of FⅧ negative patients were detected with next-generation sequencing and matched in the humangene mutation database. Results Of all 55 patients, 20 had intron 22 inversion mutation, and the other 35 had 28 different types of mutations, of whom 3 had 2 simultaneous mutations, while 6 had no mutation. Altogether 9 new mutation types unreported before were discovered, including c.2034_2062del, c.6052_6058del, c.6046_6047del, c.1009+1G>T, c.2997dupA, c.4001delT, c.1334T>A, c.1493G>A and c.557A>T. Conclusion FⅧ mutation is the direct cause of HA. The most common mutation in severe HA is intron 22 inversion mutation. The most common mutation in coding region mutation is the missense. The 9 new mutations discovered in the study enrich the gene mutation profile and provide reference for the study of HA pathogenesis.

Key words: Hemophilia A, Coagulation factor Ⅷ, Gene mutation, Intron 22 inversion, Gene sequencing

CLC Number: 

  • R574
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