Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A

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• 作者：Edyta Odnoczko¹ ; ^{eodnoczko@ihit.waw.pl" class="auth_mail" title="E-mail the corresponding author} ; Ewa Stefańska-Windyga² ; Beata Baran¹ ; Magdalena Gó ; rska-Kosicka³ ; Joanna Sowińska³ ; Ksenia Bykowska¹ ; Jerzy Windyga¹ ; ³
• 关键词：hemofilia A ; badania genetyczne ; gen F8 ; mutacje inwersyjne ; IS-PCR
• 刊名：Acta Haematologica Polonica
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：46
• 期：5
• 页码：372-377
• 全文大小：628 K

文摘

Hemophilia A is a genetically determined bleeding disorder, caused by deficiency, lack or dysfunction of plasma coagulation factor VIII. Approximately in 45–50% of severe haemophilia A patients excessive bleeding tendency is caused by the occurrence of inversion mutation in the intron 22 (INV22) F8 gene and in about 1–5% – inversion mutation in the intron 1 (INV1). In this paper we present the results of the study aimed to assess the prevalence of INV22 and INV1 in severe HA patients in Poland and to estimate the incidence of FVIII inhibitor in patients with INV1 or INV22 mutations. Moreover, the role of genetic testing in the diagnosis of hemophilia A as well as molecular method used in the current study to detect the inversion mutations in the F8 gene was discussed.