کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3328079 1212294 2015 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Acta Haematologica Polonica - Volume 46, Issue 5, November 2015, Pages 372–377
نویسندگان
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