广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究 The Study on the Haplotype of MICA and MICB Microsatellite Locus In Guangzhou Han Population

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示，广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则，共检出MICA微卫星基因座 5个等位基因， MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877），A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255），CA19、CA28等位基因频率最低（0.0047），未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%)，A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点，MICA和MICB微卫星基因座适合做为遗传标志，用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%)，A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示,广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则,共检出MICA微卫星基因座 5个等位基因, MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877）,A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255）,CA19、CA28等位基因频率最低（0.0047）,未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%),A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点,MICA和MICB微卫星基因座适合做为遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%),A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

江浙沪地区汉族人群HLA单体型研究

利用HLA血清学和分子生物学分型方法对江浙沪地区汉族人群166对夫妻进行HLA-A,B和DR B1单体型调查,并分析HLA单体型的分布特征.结果显示,江浙沪地区汉族人群HLA-A2,A11,A24,B13,B46,B60,DRB104,DRB108,DRB109,DRB112和DRB115有较高的频率分布(＞10%).研究中发现HLA-A-B,B-DRB1单体型分别有128条和182条,占理论单体型总数的19.28%(128/664)和27.41%(182/664).其中有18种A-B单体型频率大于0.5%(连锁不平衡参数△＞0),有23种B-DRB1单体型频率大于0.5%(△＞0).A-B-DRB1单体型有351条,占理论单体型总数的52.86%(351/664),其中8种单体型频率大于0.5%(△＞0),A 30-B13-DRB107(4.22 %),A2-B46-DRB109(3.77%),A33-B58-DRB117(3.01%),A33-B58-DRB113.1(1.81%)和A11-B75-DRB112(1.51%)是最常见单体型.江浙沪地区汉族人群HLA单体型有其自身分布特点,遗传特征介于南北汉族之间,在东亚人群中中国汉族群体HLA多态性较为丰富.