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目的初步探讨睡眠呼吸暂停综合征(sleep apnea syndrome,SAS)的遗传易感因素。方法采用聚合酶链反应技术,检测104例SAS患者和150名健康对照者的5-羟色胺转运体(5-hydroxytryptaminetransporter,5-HTT)基因启动子的基因连锁多态区(gene-linked polymorphic region,LPR)和第2内含子的可变数目串联重复区(variable number tandemrepeat,VNTR)多态性,分别对所得基因型和等位基因的频率进行相关统计学分析。结果SAS患者5-HTTLPR多态性的基因型和等位基因频率与正常对照组之间的差异无统计学意义(P>0.05)。SAS患者的5-HTT-VNTR的基因型10/10、12/10频率高于正常对照组(P<0.05),其等位基因10的频率高于正常对照组(P<0.01,OR=2.536,95%CI:1.071~6.783)。结论5-HTTLPR可能不是SAS患者的遗传位点,第2内含子VNTR的等位基因10可能与SAS有一定的关联。
Objective To investigate the genetic predisposition factors of sleep apnea syndrome (SAS). Methods Polymerase chain reaction (PCR) was used to detect the gene-linked polymorphic region of 5-hydroxytryptaminetransporter (5-HTT) gene promoter in 104 SAS patients and 150 healthy controls. LPR) and variable number tandem repeat (VNTR) polymorphism of the second intron were used to analyze the frequency of genotypes and alleles. Results There was no significant difference in the genotype and allele frequencies of 5-HTTLPR polymorphism between SAS patients and controls (P> 0.05). The frequency of 10/10 and 12/10 genotypes of 5-HTT-VNTR in SAS patients was higher than that of normal controls (P <0.05), and the frequency of allele 10 in SAS patients was higher than that of normal controls (P <0.01, OR = , 95% CI: 1.071 ~ 6.783). Conclusions 5-HTTLPR may not be the genetic locus of SAS patients. The allele 10 of VNTR 2 may be related to SAS.