【作者】 梁湘辉；

【导师】 刘文恩；

【作者基本信息】 中南大学 ， 临床检验诊断学， 2009， 硕士

【摘要】 目的了解湖南汉族人群中的慢性HBV患者、HBV携带者和健康对照人群中MICA外显子5的微卫星多态性(MICA—STR),比较分析其各基因型、等位基因频率以及表型频率的差异。方法应用聚合酶链反应和基因扫描技术分别对108例慢性HBV患者、96例HBV携带者和142例健康对照者进行MICA基因第5外显子微卫星多态性分析;应用DNA测序分析对不同的基因型进行验证;应用PCR/SSP技术进行MICA*Del的检测;综合以上三项检测结果,确定MICA基因第5外显子基因型。结果1.本次研究的三组中分别检出A4,A5,A5.1,A6,A9五种等位基因,在HBV携带组和健康对照组中分别检出1例MICA*Del基因。2.慢性HBV患者组MICA*A5.1/A9基因型频率(7/108)低于健康对照组(22/142),RR=0.378,P=0.028;慢性HBV患者组的MICA*A9等位基因频率(20/216)低于健康对照组(46/248),RR=0.526,P=0.023;慢性HBV患者组MICA*A9表型频率(18/108)低于健康对照组(45/142),RR=0.431,P=0.007。3.HBV携带组MICA*A5.1/A9基因型频率(4/96)低于健康对照组(22/142),RR=0.237,P=0.006;HBV携带组MICA*A9等位基因频率(18/192)低于健康对照组(46/284)RR=0.535,P=0.032;HBV携带组MICA*A9表型频率(17/96)低于健康对照组(45/142),RR=0.464,P=0.016。4.慢性HBV患者组与HBV携带者组间MICA基因第5外显子各基因型、等位基因频率、表型频率的差异均无统计学意义(P＞0.05)。结论1.湖南地区汉族人群MICA-STR只检出A4,A5,A5.1,A6,A9五种等位基因,且以A5和A5.1为主。2.研究发现湖南地区汉族人群中HBV携带者和慢性HBV患者的MICA*A5.1/A9基因型频率低于健康对照组(P＜0.05),推测MICA*A5.1/A9基因型可能是抗HBV感染的一种保护性基因型。3.研究发现湖南地区汉族人群中HBV携带者和慢性HBV患者的MICA*A9等位基因频率和表型频率均低于健康对照组(P＜0.05),推测MICA*A9等位基因可能是抗HBV感染的一种保护性等位基因。4.湖南地区汉族人群HBV携带者和慢性HBV患者间的基因型频率、等位基因频率和表型频率差异均无统计学意义(P＞0.05)。更多还原

【Abstract】 Objective To investigate the genetic polymorphism of microsatellite in theexon 5 of MICA gene(MICA-STR) in HBV carriers,chronic HBV infectious patients and healthy controls of Han population in Hunan Province and analyze the distinction of their genotypes, gene frequency and phenotypic frequency.Methods The microsatellite polymorphism of MICA exon 5 in 108 chronicHBV infectious patients,96 HBV carriers and 142 healthy controls were analyzed using polymerase chain reaction(PCR) and genescanning technique. The genotypes were confirmed by DNA sequencing. .MICA gene deletion was detected byPCR-sequence specific priming(PCR/SSP). The genotypes of MICA exon 5 were determined according to the three detecting results.Results 1. Five alleles of MICA-STR were detected in this study,which are A4,A5,A5.1,A6 and A9.One MICA*Del gene was detected in both HBV carrier group and healthy control group.2. MICA*A5.1/A9 was observed at significantlylower frequency in the chronic HBV patient group than in the healthy control group ( relative risk = 0.378, P = 0.028); MICA* A9 was present at significantly lower frequency in the chronic HBV patient group than in the healthy control group (RR = 0.526, P = 0. 023);Phenotypic frequency of MICA*A9 was significantly lower in chronic HBV patient group than in the healthy control group (RR = 0.431, P = 0. 007).3. MICA*A5.1/A9 was observed at signifieantly lower frequency in the HBV carrier group than in the healthy control group ( relative risk = 0.237, P = 0. 006); Gene frequency of MICA*A9 was signifieantly lower in the HBV carrier group than in the healthy control group (RR=0.535, P=0.032); Phenotypic frequency of MICA*A9 was significantly lower in the HBV carrier group than in the healthy control group (relative risk = 0.464, P = 0. 016).4. The genotypic frequency, allele frequency and phenotypic frequency of MICA exon 5 showed no statistically significant difference between the HBV carrier group and the chronic HBV patient group(P>0.05).Conclusions 1.Five alleles of MICA-STR are detected in Hunan Hanpopulation,which are A4,A5,A5.1,A6 and A9.Among them,the A5 and A5.1 allele are more frequently observed.2.MICA*A5.1/A9 seems to be one of protective genotypes against HBV infection in that it is the first report that its genotypic frequency in HBV carriers and chronic HBV patients is significantly lower than in healthy controls in Hunan Han population.3. It is the first report that the allele frequency and phenotypic frequency of MICA* A9 are significantly lower in HBV carriers and chronic HBV patients than in healthy controls in Hunan Han population,so it is presumed that MICA* A9 is one of protective genes against HBV infection.4. The genotypic frequency, allele frequency and phenotypic frequency show no statistically significant difference between the HBV carriers and the chronic HBV patients in Hunan Han population.更多还原