Gli基因多态性与新生儿呼吸系统疾病的关联研究

目的:研究Gli基因G933D位点及E1100Q位点多态性与新生儿呼吸系统疾病的关联。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对121例患呼吸系统疾病新生儿和98例健康新生儿的Gli基因G933D位点及E1100Q位点的多态性进行了检测,比较两组各自的基因型分布频率。结果:G933D的AA、GG和GA基因型在疾病组中分别为46.30%、53.70%和0,在对照组中分别为62.20%、30.60%和7.10%。两组的分布频率差异有统计学意义(χ2=17.89,P<0.05)。E1100Q位点的CC、GG和GC基因型在疾病组中分别为0.82%、57.02%、42.15%,在对照组中分别为4.08%、39.80%、56.12%。两组的分布频率差异无统计学意义(χ2=2.59,P>0.05)。结论:Gli基因G933D位点的基因多态性分布差异与新生儿呼吸系统疾病易患性间具有一定程度的关联,Gli基因G933D位点的A/A、G/A基因型可能为新生儿呼吸系统疾病的保护基因;未发现E1100Q位点基因多态性与新生儿呼吸系统疾病存在关联。

Analysis on the relationship between Gli genetic polymorphism and respiratory diseases in neonates.

Objective:To observe the relationship between Gli genetic polymorphism and respiratory diseases in neonates,explore gene locus of G933D.Methods:Gene locus of G933D in Gli and polymorphism of E1100Q in 121 neonates with respiratory diseases and 98 healthy neonates were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results:The distribution frequencies of AA,GA,GG genotypes of Gli gene were 46.30%,0%,and 53.70% in disease group,62.20%,7.10% and 30.60% in control group(χ2=17.89,P<0.05).The distribution frequencies of CC,GG,GC genotypes of E1100Q were 0.82%,57.02% and 42.15% in disease group,4.08%,39.80% and 56.12% in control group(χ2=2.59,P>0.05).Conclusion:The distribution frequency of polymorphisms of gene locus of G933D in Gli is related to susceptibility of respiratory diseases in neonates,and AA,GA genotypes in gene locus of G933D in Gli may have protective effect on respiratory diseases in neonates;there is no relationship between polymorphisms of gene locus of E1100Q and respiratory diseases in neonates.