RH因子和HBS1L-MYB基因多态性与重型β地中海贫血患儿输血效果的关系探讨

Relationship of rhesus factor and HBS1L-MYB polymorphisms with blood transfusion effect in children with β-thalassemia major

目的探讨恒河猴(rhesus macacus,RH)因子和贫血致病基因HBS1L-MYB与重型β地中海贫血(β-thalassemia major,β-TM)患儿输血效果的关系。方法回顾性分析128例重型β-TM患儿临床资料,分别采用聚合酶链反应-序列特异性引物(PCR-SSP)法和PCR-限制性片段长度多态性(RFLP)检测患儿RH因子和贫血致病基因HBS1L-MYBrs4895441、rs35959442位点多态性。根据输血是否有效将患者分为有效组和无效组,对比2组RH因子基因型分布及等位基因频率,贫血致病基因HBS1L-MYBrs4895441、rs35959442位点基因型分布及等位基因频率。结果本组患者输血有效率为34.38%。有效组与无效组RH因子基因型分布比较差异有统计学意义(P<0.05)。有效组与无效组比较,RH因子e等位基因频率较低[(60.82%)vs.(77.42%)],E等位基因频率较高[(39.18%)vs.(22.58%)],差异有统计学意义[χ^2=5.676,P=0.017,OR值(95%CI)为2.208(1.140~4.279)],RH因子C等位基因频率[(64.43%)vs.(72.58%)],c等位基因频率[(35.57%)vs.(27.42%)]比较差异无统计学意义[χ^2=1.398,P=0.237,OR值(95%CI)为0.684(0.364~1.286)];有效组与无效组比较,HBS1L-MYB基因rs4895441位点AA[(67.01%)vs.(32.26%)]基因型构成比较高,GA[(31.96%)vs.(54.84%)]、GG[(1.03%)vs.(12.90%)]基因型构成比较低[(χ^2=11.694、5.247、5.942,P=0.001、0.022、0.015),OR值(95%CI)分别为3.565(1.463~8.685)和26.00(2.632~256.803)];有效组与无效组比较,HBS1L-MYB基因rs4895441位点G等位基因频率较低[(17.01%)vs.(40.32%)],A等位基因频率较高[(82.99%)vs.(59.68%)],差异有统计学意义[(χ^2=14.572,P=0.000),OR值(95%CI)为0.303(0.161~0.570)]。有效组与无效组比较,HBS1L-MYB基因rs35959442位点CC[(65.98%)vs.(41.94%)]基因型构成比较高,CG[(31.96%)vs.(51.61%)]基因型构成比较低[χ^2=5.666、3.905,P=0.017、0.048,OR值(95%CI)为2.541(1.088~5.935)],GG[(2.06%)vs.(6.45%)]基因型构成比比较差异无统计学意义[χ^2=1.495,P=0.221,OR值(95%CI)为4.923(0.635~38.190)];有效组与无效组比较,HBS1L-MYB基因rs35959442位点G[(18.04%)vs.(32.26%)]等位基因频率较低,C[(81.96%)vs.(67.74%)]等位基因频率较高[χ^2=5.630,P=0.018,OR值(95%CI)为0.462(0.242~0.882)]。结论重型β-TM输血有效性可能与RH因子E、e等位基因频率和贫血HBS1L-MYB致病基因rs4895441、rs35959442位点多态性有关。