Haemophilia B PMS1 Gene SNPs Predictions through Insilico Approach at Proteomics Levels

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Blood Research & Hematologic Diseases has announced almost 50% discount on article processing charge to commemorate its Anniversary.

On behalf of the Blood Research & Hematologic Diseases, the editor of journal is overwhelmed by the response and eagerness of the academic and research contributors to publish with the journal and take part in the year-long celebrations. During this year we look forward to taking some initiatives that would encourage and reward our prospective audience which include clinicians, research scientists, decision-makers and a range of Hemophilia is one of the important hereditary disease that leading to deficiency in some clotting factors due to gene mutations beside this it related most important hematologic parts; anemia, the aim of this study is to identify the PMS1 (hemophilia B) gene SNPs and to predict mutation effects of this gene at the proteomic level, through in silico tools such as proven, sift, polyphen-2, I mutant suite-3, SNPs & GO, finally Meta-snp prediction.

 A according to these predictions tools & their confirmations I found that PMS1 gene SNPs showed damaging prediction which was considered as clinical manifestation in this study beside these a lots of SNPs illustrate decreasing in protein functionality; unfortunately 26 SNPs showed prediction results just with sift & proven predictions software and these explain why they were excluded from this study with those showed benign predictions by polyphen-2, in addition to confirmation of ORMDL1 gene SNPs that located at the same PMS1 gene chromosome had the same clinical effect such as PMS1 gene SNPs.

Hemophilia B is characterized by deficiency in factor IX clotting activity due to mutation in factor IX gene, that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. Hemophilia B is phenotypically indistinguishable from hemophilia A, it was first recognized as a different kind of hemophilia in 1952 with additional name Christmas disease; named after Stephen Christmas, the first patient who described with this disease. According to the level of factor IX clotting activity beside age of patients and frequency of bleeding episodes hemophilia are divided to 3 levels; mild, moderate and severe

Keywords: Haemophilia B; Clotting factors; Meta-snp predictionThe Journal of Blood Research & Hematologic Diseases aims to disseminate knowledge and promote discussion through the publication of peer-reviewed, high quality research papers on all topics related to blood.

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Mercy Eleanor
Journal of Blood Research & Hematologic Diseases
E-mail id: bloodres@peerjournal.org