云南傈僳族FUT2、FUT3基因多态性研究
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国家自然科学基金(81860040);云南省科技计划项目—昆明医科大学联合专项基金(2017FE468?125)


Genetic polymorphisms of FUT2 and FUT3 in the LiSu minorities of Yunnan
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    摘要:

    目的:了解云南少数民族人群FUT2、FUT3基因多态性,同时探讨与汉族人群的差异。方法:随机选取149例云南地区傈僳族人群,利用血型血清学方法分析其Lewis表型;利用直接测序法,对其FUT2、FUT3进行基因检测,采用卡方检验比较各等位基因频率在傈僳族人群与汉族人群间的差异。结果:149例云南傈僳族人群的各表型频率分别为Le(a-b+)46.3%、Le(a+b-)34.9%、Le(a-b-)18.7%,FUT2基因发现1例白种人中常见的G428A突变,但其与A171G、C357T、A385T、G739A突变同时发生;FUT3基因发现7个突变位点,其中C762A为首次发现的突变位点。单倍体分析显示,除功能性的Le等位基因外,还发现可疑为功能性等位基因Le732(732C>T)1种,非功能性的等位基因8种;云南傈僳族人群与汉族人群比较,Se357、se357,385、se385、se357,571、se171,428,739,960、le59、le1067、le508、le59,508阳性率的差异均存在统计学意义(P < 0.05)。结论:中国云南傈僳族人群FUT2、FUT3等位基因具有广泛的遗传多态性。

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    Objective:To study and compare the genetic polymorphism difference of Lewis related fucosyltransferase-2(FUT2)and fucosyltransferase-3(FUT3)between LiSu minority and Han population in Yunnan. Methods:A total of 149 random samples were collected from LiSu minority in Yunnan. Samples were analyzed using blood typing serological method for Lewis phenotyping. All samples also undergone direct sequencing method for FUT2 and FUT3,and Chi square test was used for statistical analysis. Results:The frequency of Lewis phenotype in the 149 samples were as followed,Le(a-b+)46.3%,Le(a+b-)34.9%,Le(a-b-)18.7%. One FUT2 sequence sample demonstrated a rare allele G428A mutation that was common in Caucasian,however it was accompanied with A171G,C357T,A385T,and G739A mutation. Seven alleles mutation ponits were found in FUT3 sequencing,and C762A mutation was a new discovery. Besides functional Le allele,halotyping indicated 1 possible functional Le allele Le732(732C>T)and 8 non-functional Le alleles. Statistical analysis showed a significant difference in Se357,se357,385,se385,se357,571,se171,428,739,960,le59,le1067,le508,le59,508,between LiSu minority and Han population(P < 0.05). Conclusion:Alleles FUT2 and FUT3 of LiSu minority in Yunnan province had a wider range of genetic polymorphism.

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程瑜静,代 润,陈婉璐,李 琦,江晓春.云南傈僳族FUT2、FUT3基因多态性研究[J].南京医科大学学报(自然科学版),2020,(10):1520-1524

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  • 收稿日期:2019-09-22
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  • 在线发布日期: 2020-11-10
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