目的鑒定中國南方人群中的一種罕見α-地貧基因突變,以及此突變所致Hb H病的家系分析和基因診斷。方法采集家系成員外周全血,進行血液學表型分析和地貧基因常規(guī)檢測,對常規(guī)檢測基因型與表型不符的標本進一步DNA測序分析。結果該家系中檢出罕見α-地貧基因*92A>G突變,確認先證者及先證者姐姐基因型為--SEA/α*92A>Gα的非缺失型Hb H病,先證者哥哥基因型為-α3.7/α*92A>Gα的標準型α-地貧、父親基因型為αα/α*92A>Gα的靜止型α-地貧。結論首次鑒定報道了中國南方人群中罕見α-地貧基因*92A>G突變,以及攜帶此突變的靜止型α-地貧、復合此突變非缺失型Hb H病的基本表型特征,豐富了中國人群α-地貧基因突變譜,有助于指導α-地貧的人群篩查、臨床基因診斷和遺傳咨詢。 

【文章來源】：南方醫(yī)科大學學報. 2016年09期 北大核心

【文章頁數(shù)】：4 頁

【部分圖文】：

血紅蛋白組份高效液相色譜分析圖

45.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(2.8%A2-3.860.1%-F1.9045.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(1.9%A2-3.61.5%-F1.016.1%-H0.2145.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(2.6%A2-3.61.5%-F1.9045.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(1.0%A2-3.460.9%-F1.80-H0.219.8%45.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(-2.3511.3%-F1.1118.3%-H0.21II3II2II1I2I1--SEA-α3.7α*92A>GαABCDEF圖1血紅蛋白組份高效液相色譜分析圖Fig.1:HPLCanalysisofthehemoglobincomponentsintheprobandandhisfamilymembers.A:Fatheroftheproband(I1);B:Mother(I2);C:Brother(II1);D:Sister(II2);E:Theproband(II3);F:Pedigreeanalysis.圖2先證者及其父親DNA測序結果圖Fig.2DNAsequencingfortheprobandandhisfather.Thearrowsindicatethepositionofα*92A>Gαmutation.Upper:DNAsequencingresultofthproband'sfathershowingaheterozygousA/Gmutation;Lower:DNAsequencingresultoftheprobandshowingahomozygousA/Gcombinedwitha--SEAmutation.http://www.j-smu.comJSouthMedUniv,2016,36(9):1295-1298·1297·

45.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(2.8%A2-3.860.1%-F1.9045.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(1.9%A2-3.61.5%-F1.016.1%-H0.2145.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(2.6%A2-3.61.5%-F1.9045.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(1.0%A2-3.460.9%-F1.80-H0.219.8%45.037.537.030.022.515.07.50.00123456Time(min)necePtage%)(-2.3511.3%-F1.1118.3%-H0.21II3II2II1I2I1--SEA-α3.7α*92A>GαABCDEF圖1血紅蛋白組份高效液相色譜分析圖Fig.1:HPLCanalysisofthehemoglobincomponentsintheprobandandhisfamilymembers.A:Fatheroftheproband(I1);B:Mother(I2);C:Brother(II1);D:Sister(II2);E:Theproband(II3);F:Pedigreeanalysis.圖2先證者及其父親DNA測序結果圖Fig.2DNAsequencingfortheprobandandhisfather.Thearrowsindicatethepositionofα*92A>Gαmutation.Upper:DNAsequencingresultofthproband'sfathershowingaheterozygousA/Gmutation;Lower:DNAsequencingresultoftheprobandshowingahomozygousA/Gcombinedwitha--SEAmutation.http://www.j-smu.comJSouthMedUniv,2016,36(9):1295-1298·1297·

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期刊論文
[1]廣東南海地區(qū)血紅蛋白H病的分子流行病學調查[J]. 申芫子,潘干華,黃勇,劉國先.  中國優(yōu)生與遺傳雜志. 2014(01)



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