CAJ | 학술논문

　　目的：检测肿瘤坏死因子-β(TNF-β)基因＋252位点基因多态性与汉族天疱疮遗传易感性的相关性。方法：运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术，对38例寻常型天疱疮(PV)、31例落叶型天疱疮(PF)和85例正常对照进行TNF-β基因＋252位点基因多态性检测，分别比较PV组、PF组与正常对照组中该位点基因型和等位基因的频率。结果： TNF-β基因＋252位点G/G基因型频率在PV组、PF组和正常对照组分别是15.79％(6/38)、16.13％(5/31)和14.12％(6/85)；G/A基因型频率在PV组、PF组和正常对照组分别是52.63％(20/38)、35.48％(11/31)和45.88％(39/85)；A/A基因型频率在PV组、PF组和正常对照组分别是31.58％(12/38)、48.39％(15/31)和40.00％(34/85)。上述各基因型和G、A等位基因的分布频率与对照组无统计学差异(P>0.05)。结论： TNF-β基因＋252位点基因多态性和G、A等位基因与汉族PV、PF的遗传易感性可能无关。
　　목적：검측종류배사인자-β(TNF-β)기인＋252위점기인다태성여한족천포창유전역감성적상관성。방법：운용취합매련반응-한제성편단장도다태성(PCR-RFLP)기술，대38례심상형천포창(PV)、31례락협형천포창(PF)화85례정상대조진행TNF-β기인＋252위점기인다태성검측，분별비교PV조、PF조여정상대조조중해위점기인형화등위기인적빈솔。결과： TNF-β기인＋252위점G/G기인형빈솔재PV조、PF조화정상대조조분별시15.79％(6/38)、16.13％(5/31)화14.12％(6/85)；G/A기인형빈솔재PV조、PF조화정상대조조분별시52.63％(20/38)、35.48％(11/31)화45.88％(39/85)；A/A기인형빈솔재PV조、PF조화정상대조조분별시31.58％(12/38)、48.39％(15/31)화40.00％(34/85)。상술각기인형화G、A등위기인적분포빈솔여대조조무통계학차이(P>0.05)。결론： TNF-β기인＋252위점기인다태성화G、A등위기인여한족PV、PF적유전역감성가능무관。
Objective:To correlate tumor necrosis factor (TNF)-βgene+252 G/A single nucleotide poly￣morphism with susceptibility to pemphigus in Han Chinese. Methods:The restriction fragment length polymor￣phism (PCR-RFLP) assay was applied to detect the polymorphism of TNF-β gene at the position +252 in patients with pemphigus. The study included 38 patients with pemphigus vulgaris (PV),31 patients with pem￣phigus foliaceus (PF) and 85 cases of normal control. Allele frequencies were compared between the PV or PF group and the control group using theχ2 analysis. Results:The frequencies of genotype G/G in PV group,PF group and normal control group were 15.79% (6/38),16.13% (5/31) and 14.12% (6/85),respective￣ly. The frequencies of genotype G/A in PV group,PF group and normal control group were 52.63% (20/38),35.48%(11/31) and 45.88%(39/85), respectively. The frequencies of genotype A/A in PV group, PF group and normal control group were 31.58%(12/38),48.39% (15/31) and 40.00% (34/85),respective￣ly. No significant difference was found between PV group and the normal control group or between PF group and the normal control group in the frequencies of genotype G/G,G/A,A/A and G or A alleles at the posi￣tion +252 of TNF-β gene. Conclusion:There is likely no association between TNF-βgene +252G/A single nucleotide polymorphism and susceptibility to pemphigus in Han Chinese.