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目的:探讨甘油二脂激酶κ(DGKK)基因单核苷酸多态性在中国人群尿道下裂发病的作用。方法:收集300例散发国内尿道下裂患儿(200例中远端型,100例近端型)和200例正常儿童的外周静脉血,提取DNA,对DGKK基因的2个在中国人群中尚未报道的与尿道下裂发生相关的单核苷酸多态性位点(SNP)rs1934179和rs7063116进行直接测序并比对。结果:病例组的rs1934179的突变型频率(5.0%,15/300)显著高于对照组(1.5%,3/200)(P<0.05),rs7063116的突变型频率(5.67%,17/300)亦显著高于对照组(2.0%,4/200)。而病例组中,rs1934179和rs7063116均为仅中远端型尿道下裂组的突变型频率(6.5%,13/200;7.5%,15/200)显著高于对照组(P<0.05),而近端型尿道下裂组的突变型频率(均为2.0%,2/100)与对照组没有统计学差异(P>0.05)。结论:DGKK基因的多态性可能和中国人群尿道下裂的发生存在联系,尤其是与中远端型尿道下裂的发生明显相关。
Objective: To investigate the role of single nucleotide polymorphism of DGKK gene in the pathogenesis of hypospadias in Chinese population. Methods: Peripheral venous blood was collected from 300 children with hypospadias (200 in the distal, 100 in the proximal) and 200 normal children, and DNA was extracted. Two of the DGKK genes were not found in the Chinese population The reported SNPs rs1934179 and rs7063116 associated with hypospadias were directly sequenced and aligned. Results: The mutation frequencies of rs1934179 (5.0%, 15/300) in case group were significantly higher than those in control group (1.5%, 3/200) (P <0.05). The mutation frequencies of rs7063116 (5.67%, 17/300) Also significantly higher than the control group (2.0%, 4/200). In the case group, rs1934179 and rs7063116 were all significantly higher than those in the control group (6.5%, 13/200; 7.5%, 15/200) in the meso-distal hypospadias group (P <0.05) There was no significant difference (P> 0.05) between the mutation frequency of proximal hypospadias (2.0%, 2/100) and the control group. Conclusion: The polymorphism of DGKK gene may be related to the occurrence of hypospadias in Chinese population, especially with the occurrence of distal hypospadia.