本文關(guān)鍵詞：采用Amplicon文庫構(gòu)建法對地中海貧血的基因檢測　出處：《分子診斷與治療雜志》2016年06期 　論文類型：期刊論文

  更多相關(guān)文章： 地中海貧血 基因檢測 Amplicon文庫構(gòu)建 β-突變 α-缺失

【摘要】：目的進(jìn)一步完善現(xiàn)有地中海貧血的檢測方法并且建立一種新的基于高通量測序的基因診斷方法,研究α/β地中海貧血基因的突變類型及分布情況。方法采用Amplicon文庫構(gòu)建法,基于高通量測序平臺,對219例地中海貧血患者全血樣本進(jìn)行上機(jī)測序與數(shù)據(jù)分析。結(jié)果在219例地中海貧血患者中,共計檢測出14種突變類型,包括CD122、CD125、CD142 3種非缺失型α-地貧突變及IVS-Ⅱ-654、CD41-42、CD17等11種常見β-地貧突變型別。此外,通過生物信息學(xué)軟件作圖分析,篩查出--~(SEA)、-α~(3.7)、-α~(4.2)3種缺失型α-地貧。結(jié)論本研究進(jìn)一步完善了基于高通量測序的基因診斷方法,建立了一套Amplicon文庫構(gòu)建法,能準(zhǔn)確、有效地用于診斷α/β地中海貧血基因的缺失與突變類型,對人群篩查,優(yōu)生優(yōu)育的遺傳咨詢,防止該病重癥患兒的出生等具有重要意義。
[Abstract]:Objective to improve the existing detection methods of thalassemia and to establish a new gene diagnosis method based on high-throughput sequencing. Methods to study the mutation type and distribution of 偽 / 尾 thalassemia gene. Methods Amplicon library construction method was used and high throughput sequencing platform was used to study the mutation type and distribution of 偽 / 尾 thalassemia gene. The whole blood samples of 219 patients with thalassemia were sequenced and analyzed. Results 14 mutation types including CD122 were detected in 219 patients with thalassemia. There were 11 common 尾 -thalassemia mutations such as CD125, CD142 and IVS- 鈪，

本文編號：1356333