臺灣國際科展

Understanding the Modern Diagnoses of Protein C Deficiency "Pcd" with Unknown Gene Plays a Critical Role in the Inherited Thrombophilia

科展類別
臺灣國際科展作品
屆次
2017年
科別
醫學與健康科學
得獎情形
三等獎
學校名稱
Alkhndaq national School
作者
abdullah faisal alzarroug
關鍵字
IF(ISERROR(MATCH(#REF!,[TISFlist_2017.xlsx]關鍵詞!#REF!,0)),"",INDEX([TISFlist_2017.xlsx]關鍵詞!#REF!,MATCH(#REF!,[TISFlist_2017.xlsx]關鍵詞!#REF!,0)))

摘要或動機

Protein C deficiency (PCD) is found in 1 out of 200 to 500 persons in the general global population which is also one of the common conditions of Inherited thrombophilia, it’s characterized by an increased tendency of blood to clot in human blood vessels. It is caused by several factors including mutations in the genes involved in thrombin binding, protein c activation and numerous clotting factors. This includes F5 (Factor 5 Leiden) gene on chromosome 1q24.2, F7 (Prothrombin) gene on chromosome 13q34, SERPINC1 (serpin peptidase inhibitor C) on chromosome 1q25.2, SERPIND1 (serpin peptidase inhibitor D) on chromosome 22q11.21, HRG (Histidine Rich Glycoprotein) on chromosome 3q27.3, PLAT (Plasminogen Activator) on chromosome 8q11.21 and THBD (Thrombomodulin) gene on chromosome 20p11.21. In the current study, a three Saudi families with inherited thrombophilia has been recruited to identify the underlying cause of this special condition. Whole exome sequencing, targeting all coding exons of the human genome, was performed using Illumina Nextera library preparation kits followed by paired-end sequencing on Illumina NextSeq500 instrument. Reads quality control was performed and reads were aligned to the reference genome using BWA software. Variants calling and annotation was performed using GATK. All known genes involved in causing inherited thrombophilia All known genes involved in causing PCD were excluded by whole exome sequencing. The genes that were previously reported to be involved in inherited thrombophilia were checked for any causative variant. No mutation has been identified in known genes. identifying a novel gene underlying PCD. The Result of this study will hopefully pave the way to better understanding the disease pathophysiology and help in developing DNA based diagnosis, carrier screening and somatic gene therapy.


「為配合國家發展委員會「推動ODF-CNS15251為政府為文件標準格式實施計畫」,以及 提供使用者有文書軟體選擇的權利,本館檔案下載部分文件將公布ODF開放文件格式, 免費開源軟體可至LibreOffice 下載安裝使用,或依貴慣用的軟體開啟文件。」

檔案名稱 檔案大小 格式
Understanding the Modern Diagnoses of Protein C Deficiency "Pcd" with Unknown Gene Plays a Critical Role in the Inherited Thrombophilia 415 KB Adobe Reader(Pdf)檔案