【作者】 周茂松；

【导师】 严煜林；

【作者基本信息】 广西医科大学 ， 皮肤性病学， 2009， 硕士

【摘要】 目的:研究广西地区壮、汉族系统性硬皮病(systemic sclerosis,SSc)与HLA-DRB1等位基因的相关性。方法:采用聚合酶链反应-序列特异性引物(polymerase chainreaction-special sequence primers,PCR-SSP)的方法,对广西地区壮族58例、汉族53例SSc患者和壮、汉族各50例健康对照者进行HLA-DRB1等位基因分型。结果:1.HLA-DRB1等位基因频率分布(1).壮族SSc患者组中,共检出14种等位基因,基因频率范围为0.826%-26.724%。其中DRB1*1301、*1305、*15等位基因的频率较高(分别为7.760%、11.207%、26.724%),DRB1*04、*07、*1001频率较低(均为0.826%),DRB1*01、*1402均未检出。壮族对照组中,共检出16种等位基因,基因频率范围为1.00%-15.00%。其中DRB1*15等位基因的频率较高(为15%),DRB1*01、*0301、*04、*1301、*1402的频率较低(均为1.00%)。(2).汉族SSc患者组中,共检出14种等位基因,基因频率范围为0.943%-28.302%。其中DRB1*1305、*15等位基因的频率较高(为16.981%、28.302%),DRB1,0301频率较低(为0.943%),DRB1*01、*07均未检出。汉族对照组中,共检出16种等位基因,基因频率范围为1.00%-12.00%。其中DRB1*15等位基因的频率较高(为12%),DRB1*01、*04、*08、*1001、*11、*1301、*1302、*1401、*1402的频率较低(均为1.00%)。2.HLA-DRB1等位基因频率比较(1).壮族SSc患者组与正常对照组HLA-DRB1等位基因频率,HLA-DRB1*1301、*1305、*15等位基因出现频率患者组分别为7.760%(RR=9.00、X~2=4.341、P=0.037)、11.207%(RR=3.322、X~2=4.206、P=0.04)、26.724%(RR=2.697、X~2=6.038、P=0.014),与对照组(1%、4%、15.00%)相比显著升高,组间差异有统计学意义。(2).汉族SSc患者组与正常对照组HLA-DRB1等位基因频率,HLA-DRB1*1305、*15等位基因出现频率患者组分别为16.981%(RR=4.629、X~2=8.518、P=0.004)、28.302%(RR=4.130、X~2=11.325、P=0.001),与对照组(5%、12%)相比显著升高,组间差异有统计学意义。(3).其他等位基因在两组间并未发现有显著性差异。结论:HLA-DRB1*1305、*15等位基因可能是广西壮、汉族SSc患者的共同易感基因;HLA-DRB1*1301等位基因可能是广西壮族SSc患者的变异基因。未发现广西壮、汉族SSc患者的保护基因。更多还原

【Abstract】 Objective:To explore the association of HLA-DRB1 alleles with systemic sclerosis(SSc) of Zhuang and Han nationality in Guangxi region.Methods:Polymerase Polymerase chain reaction-sequence specific primer technique(PCR-SSP) was used to study the HLA-DRB1 alleles in 58 Zhuang and 53 Han nationality patients with SSc.50 randomly selected,unreleated healthy controls of Zhuang and Han nationality respectively in Guangxi region.Results:1.The distribution of HLA-DRB1 alleles:(1) 14 alleles were observed in SSc group.In Zhuang nationality,the range of allelic frequencies was from 0.826%to26.724%.Among them the DRBI*1301,*1305and*15 allele were high(7.760%,11.207%,26.724%),the DRB1*04,*07,*10 were rare(0.826%,equally),DRB1*01 and *1402 have not been examined.In controls,the range of allelic frequencies was from 1.00%to 15.00%,the DRB1*01、*0301、*04、*1301、*1402 were rare(1.00%,equally).(2) 14 alleles were observed in SSc group.In Han nationality,the range of allelic frequencies was from 0.943%to28.302%.Among them the DRB1*1305and*15 allele were high(16.981%,28.302%),the DRB1*0301was rare,DRB1*01 and *07 have not been examined.In controls,the range of allelic frequencies was from 1.00%to 12.00%,the DRB1*01、*04、*08、*1001、*11*、1301、*1302、*1401、*1402 were rare(1.00%,equally).2.The comparison of HLA-DRB1 allelic frequency:(1) DRB1*1301,*1305,*15 allelic in the SSc group of Zhuang were significantly higher than that in the control group(7.760%VS1.00%,RR＝9.00,X~2＝4.341,P＝0.037;11.207%VS 4.00%,RR＝3.322,X~2＝4.206,P＝0.04; 26.724%VS15.00%,RR＝2.697,X~2＝6.038,P＝0.014)(2) DRB1*1305,*15 allelic in the SSc group of Han were significantly higher than that in the control group(16.981%VS5.00%,RR＝4.629,X~2＝8.518,P＝0.004;28.302%VS12%,RR＝4.130,X~2＝11.325,P＝0.001).(3)No significant difference of other allelic frequencies was observed between the two subjects.Conclusion:HLA-DRB1*15、*1305、*1301 were closely related to the invasion of SSc in Guangxi;HLA-DRB1*1305and*15may be the susceptible genes of SSc in Guangxi Zhuang and Han nationality,HLA-DRB1*1301 may be the variation gene of SSc in Guangxi Zhuang;The protecting gene was not found in Guangxi Zhuang and Han nationality.更多还原