预激综合征与7q3 D7S505假名基因相关研究

目的：探寻预激综合征的遗传基础。方法：预激综合征44例,正常人53例,提取外周血白细胞基因组DNA。以7q3上D7S688和D7S483为候选位点,聚合酶链反应（PCR）扩增上述位点短片段重复序列（STR）,PCR反应产物经1．5％琼脂糖凝胶电脉检测扩增成功者以8％聚丙烯酰胺电泳（PAGE）分离。应用基因分型的方法,对预激综合征进行关联分析。 结果：D7S505位点等位基因A2、A3、A4和A6的相对风险率（RR）分别为1．0516、3．432、1．5631和1．7143,均大于1,但经χ^2检验仅A3（266bp)等位基因的RR有统计学意义,P＜0．05）,说明A3在预激综合征患者中的分布显著高于正常人,与预激综合征呈正关联。D7S483各等位基因型的频率在预激综合征患者组与正常组差异无显著意义,说明预激综合征与之不相关。结论：预激综合征与D7S505关联,对进一步探讨预激综合征的基因位点具有重要意义。

Association between pre-excitation syndrome and 7q3 D7S505 pseudonym gene

OBJECTIVE: Pre-excitation syndrome is considered to be autosomal dominant hereditary disease. The objective of this study was to search the genetic foundation of the pre-excitation syndrome. METHODS: Genomic DNA was isolated from peripheral lymphocytes obtained from 44 cases of patients with pre-excitation syndrome and 53 normal persons. Polymorphic short tandem repeats(STR) were amplified using polymerase chain reaction (PCR) and analyzed by polyacrylamide gel electrophoresis. The genotype of each individual was determined by polymorphic STR including D7S505,D7S688,D7S483. Association analysis between the pre-excitation syndrome and the 3 STR (D7S505,D7S483 and D7S688) was tested by genotyping. RESULTS: The relative risk(RR) of alleles A2 A3 A4 and A6 of D7S505 were 1.051 6, 3.432,1.563 1 and 1.714 3 respectively all of which were more than 1, but only the RR of A3 had statistic significant difference, P < 0.05 after tested by kappa(2). It supposed that the distribution of allele A3(266 bp) of D7S505 in patients with pre-excitation syndrome was much higher than that in normal controls, which suggested that pre-excitation syndrome is associated with D7S505. Whereas, there were no significant difference in every allele of D7S483 between the pre-excitation syndrome and normal persons, which suggested that pre-excitation syndrome is not associated with D7S483. CONCLUSION: The pre-excitation syndrome is associated with D7S505,the result is the foundation of the molecular genetics of the disease.