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目的探讨广东地区β-重症地中海贫血患者HLA高分辨多态性及其遗传易感性。方法采用PCR-SSP技术对168名广东籍β-重症地中海贫血患者(病例组)及138名正常无血缘关系广东供者(对照组)作HLA-A、-B和-DRB1基因高分辨分型,并对这2组人群的HLA-A、-B、-DRB1等位基因频率、A-B、B-DRB1和A-B-DRB1单体型频率作统计学分析。结果病例组HLA-A*02∶03、A*11∶02/11∶53、DRB1*16∶02等位基因频率分别为9.27%、4.21%、8.23%,高于对照组的3.70%、1.11%、4.44%(P<0.05)。病例组单体型B*38∶02-DRB1*16∶02频率与对照组相比具有统计学差异(P<0.05)。结论广东地区β-重症地中海贫血患者HLA高分辨基因多态性广泛,单体型分布分散,其与正常人之间HLA基因多态性和单体型的差异有可能是疾病易感因素。
Objective To investigate HLA high-resolution polymorphism and its genetic susceptibility in patients with β-thalassemia major in Guangdong. Methods The genotypes of HLA-A, B and -DRB1 genes in 168 Chinese patients with β-thalassemia major (case group) and 138 normal non-related Guangdong donors (control group) The frequencies of HLA-A, -B, -DRB1 alleles, AB, B-DRB1 and AB-DRB1 haplotype frequencies in these two groups were statistically analyzed. Results The allele frequencies of HLA-A * 02:03, A * 11:02 / 11:53 and DRB1 * 16:02 were 9.27%, 4.21% and 8.23% respectively in the case group, higher than 3.70% and 1.11 in the control group %, 4.44% (P <0.05). The frequency of haplotype B * 38:02-DRB1 * 16:02 in case group was statistically different from that in control group (P <0.05). Conclusion The high-resolution HLA polymorphism of β-thalassemia major in Guangdong is widespread and the haplotypes are scattered. The differences of HLA polymorphisms and haplotypes among the patients with β-thalassemia major may be the predisposing factors.