国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2013年
2期
47-50
,共4页
巯嘌呤甲基转移酶%基因多态性%等位基因频率
巰嘌呤甲基轉移酶%基因多態性%等位基因頻率
구표령갑기전이매%기인다태성%등위기인빈솔
Thiopurine S-methyltransferase,TPMT%Genetic polymorphism%Allele frequency
目的 研究新疆地区巯嘌呤甲基转移酶基因型分布及新疆地区汉族与维吾尔族基因突变频率的差异.方法 采用等位基因特异性的聚合酶链反应(allele specific-PCR,AS-PCR)方法和聚合酶链反应-限制性片段长度多态性(PCR-restrition fragment length polymophism,PCR-RFLP)方法检测新疆地区健康人群4种常见TPMT突变等位基因TPMT*2(G238C) 、TPMT* 3A (A719G/G460A)、TPMT*3B(G460A)和TPMT* 3C(A719G)进行检测.结果 192名新疆地区人群中发现8例TPMT*3C(A719G)杂合子,其中汉族5人,维吾尔族3人,没有发现TPMT*2、TPMT*3A、TPMT*3B.新疆地区人群中杂合子TPMT*3C的基因突变频率为2.08％.结论 TPMT*3C是新疆地区主要的突变类型,其等位基因频率2.08％；新疆地区汉族和维吾尔族人群中TPMT等位基因的频率差异无统计学意义.
目的 研究新疆地區巰嘌呤甲基轉移酶基因型分佈及新疆地區漢族與維吾爾族基因突變頻率的差異.方法 採用等位基因特異性的聚閤酶鏈反應(allele specific-PCR,AS-PCR)方法和聚閤酶鏈反應-限製性片段長度多態性(PCR-restrition fragment length polymophism,PCR-RFLP)方法檢測新疆地區健康人群4種常見TPMT突變等位基因TPMT*2(G238C) 、TPMT* 3A (A719G/G460A)、TPMT*3B(G460A)和TPMT* 3C(A719G)進行檢測.結果 192名新疆地區人群中髮現8例TPMT*3C(A719G)雜閤子,其中漢族5人,維吾爾族3人,沒有髮現TPMT*2、TPMT*3A、TPMT*3B.新疆地區人群中雜閤子TPMT*3C的基因突變頻率為2.08％.結論 TPMT*3C是新疆地區主要的突變類型,其等位基因頻率2.08％；新疆地區漢族和維吾爾族人群中TPMT等位基因的頻率差異無統計學意義.
목적 연구신강지구구표령갑기전이매기인형분포급신강지구한족여유오이족기인돌변빈솔적차이.방법 채용등위기인특이성적취합매련반응(allele specific-PCR,AS-PCR)방법화취합매련반응-한제성편단장도다태성(PCR-restrition fragment length polymophism,PCR-RFLP)방법검측신강지구건강인군4충상견TPMT돌변등위기인TPMT*2(G238C) 、TPMT* 3A (A719G/G460A)、TPMT*3B(G460A)화TPMT* 3C(A719G)진행검측.결과 192명신강지구인군중발현8례TPMT*3C(A719G)잡합자,기중한족5인,유오이족3인,몰유발현TPMT*2、TPMT*3A、TPMT*3B.신강지구인군중잡합자TPMT*3C적기인돌변빈솔위2.08％.결론 TPMT*3C시신강지구주요적돌변류형,기등위기인빈솔2.08％；신강지구한족화유오이족인군중TPMT등위기인적빈솔차이무통계학의의.
Objective To investigate the frequency of thiopurine s-methyltransferase gene polymorphism and the differences between Han nationality and Uygur nationality in Xinjiang.Methods The genotype frequency of four common mutations of TPMT [TPMT * 2 (G238C),TPMT * 3A (A719G/G460A),TPMT * 3B(CA60A),TPMT * 3C(A719G)] were detected by allele specific polymerase chain reaction (AS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-PFLP) in healthy individuals from Xinjiang region.Results TPMT * 3 C heterozygote were found in eight individuals,in which five were Han and three were Uygur.The allele frequency of TPMT * 3 C was 2.08 ％.There was no mutation for the other three loci.Conclusion TPMT * 3 C was the most prevalent mutant in the population of Xinjiang,and its allele frequency was 2.08 ％,and there was no difference between Han and Uygur.
