Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation—Dependent Probe Amplification

Rosa Santacroce; Vittoria Longo; Valeria BafunnoFrancesco SessaMassimiliano ChettaMichelina SarnoNenad BukvicGiovanna DAndreaMichela TomaiuoloMaurizio Margaglione

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Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation—Dependent Probe Amplification

机译：检测新删除一群意大利人血友病患者的多路复用Ligation-Dependent探测器放大

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Aim: Hemophilia A is an X-linked bleeding disorder caused by mutations widespread in the human coagulation F8 gene. Apart from common intrachromosomal translocations, most of the mutations in the F8 gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene can go undetected, especially in heterozygous females. Results: The multiplex ligation— dependent probe amplification is an efficient tool, new and fast, for discovering these rearrangements. In this study different deletions, which were detected using multiplex ligation—dependent probe amplification assay on 25 patients affected by severe hemophilia A, were classified as "mutation negative" by sequencing analysis. Conclusions: These data suggest that this screening could be systematically included in genetic screening of patients with Hemophilia A.

机译：目的:血友病A的x染色体出血障碍由突变引起广泛的人类凝固F8基因。染色体内易位,大多数F8基因的突变检测使用基因组测序分析。一个或多个外显子或删除包含整个基因可能未被发现,特别是在杂合的女性。结扎,依赖探测器放大是一个高效的工具,新的发现和快速,这些重组。删除,使用多路检测ligation-dependent探测器放大试验25血友病患者受到严重影响,通过测序归类为“负突变”分析。这种筛查可以系统地包括在内血友病患者的遗传筛查一个。

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《Genetic testing and molecular biomarkers》 |2009年第5期|573-576|共4页
作者
Rosa Santacroce; Vittoria Longo; Valeria BafunnoFrancesco SessaMassimiliano ChettaMichelina SarnoNenad BukvicGiovanna DAndreaMichela TomaiuoloMaurizio Margaglione;
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作者单位

Dipartimento di Scienze Biomediche, Genetica Medica, Universita degli Studi di Foggia, Foggia, Italy;

Unita' di Emostasi e Trombosi, I.R.C.C.S. Casa Sollievo della Sofferenza," San Giovanni Rotondo, Italy.;

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正文语种英语
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F8 gene; Hemophilia A; deletionsPatientsSevere hereditary factor VIII deficiency diseaseGenetic TestingCentre of a groupCytochrome a GroupOrder of a group;

机译：F8基因;血友病,deletionsPatientsSevere八世缺乏diseaseGenetic遗传因素TestingCentre groupCytochrome GroupOrder的一群;

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Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation—Dependent Probe Amplification

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