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目的 进行病理性近视家系与 HL A- DQB1基因的相关性研究 ,以探讨其病变机制。方法 抽提 PM家系中 5 8人的基因组 DNA,用 PCR- RFL P方法扩增 HL AII类基因DQB1的第 2个外显子 ,扩增产物用 Hae III,Bss HII,Apa I,Bsa HI,Hae II,Hpa II,Ras I,Bsp12 86 1特异性限制性内切酶酶切分型。检测结果用家系相关分析、传递连锁不平衡方法进行统计分析。结果 HL A- DQB1基因中 * 0 30 1等位基因与 PM有明显的相关性 (P<0 .0 5 )。结论 HL A- DQB1的 * 0 30 1等位基因可能为病理性近视的易感基因 ,与群体研究结果一致 ,提示自身免疫在 PM的发病中可能起到了一定作用
Objective To study the relationship between HL-DQB1 gene and pathological myopia pedigree in order to explore its mechanism. Methods The genomic DNA of 58 individuals in the PM pedigree was extracted and the second exon of DQB1 gene of HL AII was amplified by PCR-RFLP method. The amplified products were identified by Hae III, Bss HII, Apa I, Bsa HI, Hae II, Hpa II, Ras I, Bsp12 86 1 Specific restriction endonuclease digestion. Test results using family-related analysis, transfer linkage disequilibrium method for statistical analysis. Results There was a significant correlation between * 0 30 1 allele and PM in HL-DQB1 gene (P <0.05). Conclusion * 0301 allele of HL-DQB1 may be a susceptible gene for pathological myopia, consistent with the results of the population study, suggesting that autoimmunity may play a role in the pathogenesis of PM