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| 題 名 | Three Novel and One C31133T (Arg-338→Stop) Mutations of Antihemophilic Factor IX Gene Detected in Taiwan=臺灣四種新發現之第九凝血因子基因突變 |
|---|---|
| 作 者 | 楊吉雄; 王志傳; 林怡君; | 書刊名 | 中華醫學雜誌 |
| 卷 期 | 57:4 1996.04[民85.04] |
| 頁 次 | 頁241-246 |
| 分類號 | 415.62 |
| 關鍵詞 | 第九凝血因子; B型血友病; 突變; 聚合酶連鎖反應; Factor IX; Hemophilia-B; Mutation; Polymerase chain reaction; |
| 語 文 | 英文(English) |
| 中文摘要 | 背景：B型血友病是因第九凝血因子基因突變所造成，該基因約34Kb，係有八個exons所組成。由於該基因的突變並無固定位置，以前均靠限制脢切割多樣性（polymorphism）之診斷法，進行患者家族診斷。但由於聚合脢連鎖反應（polymerase chain reaction）的發展。目前已可利用該技術快速確定突變位置，並可運用於家族篩檢及產前診斷。 方法：患者均經以凝血脢原時間、活化部份凝血原時間、及第九凝血因子活性、抗原和其抑制體測定，確定診斷為B型血友病後，第九凝血因子基因方面則以聚合脢連鎖反應進行其去氧核醣核酸之定序。 結果：吾人進行本院所有B型血友病患者之基因變化研究，證實其中有四個重型血友病的家 族，各有相異之單點基因突變。且屬在臺灣新發現之基因變化。甚至其中一種在splicing unction, nt 118，的G變成C（G -> C）之突變，在國外文獻也未曾有相同之報告。另外二 種突變雖與國外文獻所報告之位置相同，但base變化不同，即nt 10458的A -> C與nt 17668的C -> T之替代變化（substitution）。另一為nt 31133，C-> T （rg -> top） 。 結論：吾人更發現nt 118的G突變成C後，形成一新的限制脢Alu I切割位，而nt 31133突變 則破壞一Taq I切割位置。吾人可利用該變化來區別病人，也可利用這些突變位置之變化， 用於患者家族快速篩檢及產前診斷。 |
| 英文摘要 | Background: Hemophilia-B is caused by mutation of the coagulation factor IX (F.IX) gene. The gene is about 34 kilobases in length and contains 8 exons ranging from 25 to 548 base pairs. There is no common mutation pattern of this gene in any population as there is in thalassemia. The hope is to localize the mutations in patients for use in making rapid familial surveys and for prenatal diagnoses. Methods: Diagnoses for a male patient with a newly-discovered mutation in Taiwan and three others with different novel mutations of F.IX gene were made from the results of prothrombin time (PT), activated partial thromboplastin time (APTT), assay of coagulation factors activity and factor IX antigen (F.IX:Ag) and also by assay of its inhibitor. The polymerase-chain-reaction (PCR)-based direct sequencing method was applied to evaluate all of the 8 exons and their flanking regions of F.IX gene for these patients. Results: The four male patients are all severe hemophilia-B. In the three patients with novel mutation of F.IX gene, two have a very low F.IX:Ag of less than 1% and one has 73%, but no one has any inhibitor. One of the four mutations is A to C transversion at nucleotide (nt) 10458 resulting in tyrosine (69) to serine change in epidermal growth factor (EGF) type B domain. Although the F.IX:Ag is present, the F.IX activity (F.IX:C) is markedly deficit owing to the change of beta-hydroxylase recognition site. Another two have mutations at the splicing junctions. They are G to C tranversion at nt 118, i.e. the first base of IVS-1 splicing donor, and G to T transversion at nt 17668, the last base of IVS-4 splicing recipient. These mutations may cause splicing failure and subsequently result in deficiency of both F.IX activity and antigen. The other mutation that has never previously presented in this country is a C to T transition (arginine-338 to stop) at nt 31133 that results in early termination of translation. Conclusions: The G to C mutation at nt 118 creates an Alu I restriction site and the C to T mutation at nt 31133 abolishes a Taq I site. Therefore, familial survey and rapid prenatal diagnosis for these patients by PCR-based direct sequencing method or by the restriction of enzyme cutting method pointing at the known mutation sites are certainly possible to achieve in our patients. |
本系統中英文摘要資訊取自各篇刊載內容。