【摘要】 目的探讨FOXP1突变与青海地区藏族先天性心脏病的相关性。方法选取100例青海地区藏族先天性心脏病患者和相匹配的藏族健康对照者100例。提取血液样本中的DNA,通过PCR扩增FOXP1编码区外显子目的基因片段,将合格扩增产物测序,所测DNA序列与数据库(NCBI的Gene Bank)中的参考序列对比,查找FOXP1的突变位点,分析FOXP1外显子基因多态性在病例组与对照组的差异。结果测序结果显示,病例组FOXP1 2号外显子211位碱基突变导致71位氨基酸发生非同义突变(c.211C>A,p.Q71K),该突变位点在Gene Bank库尚未注册;6号外显子733位碱基突变导致245位氨基酸发生非同义突变(c.733A>G,p.T245R),该突变位点在Gene Bank库尚未注册;6号外显子852位碱基突变导致283位氨基酸发生同义突变(c.852C>T,p.H283H),该突变位点在Gene Bank库注册为rs201138716;15号外显子1762位碱基突变导致588位氨基酸发生非同义突变(c.1762G>A,p.A588T),该突变位点在Gene Bank库注册为rs202173892。对照组中未发现上述4个突变位点。结论在先天性心脏病患者的FOXP1外显子序列检测出4个多态性位点(其中2个为新发现的突变位点),这4个单核苷酸多态性位点可能与青海地区藏族先天性心脏病相关。更多还原

【Abstract】 Objective To analyze the relationship between the polymorphisms of FOXP1 gene and congenital heart disease(CHD)in Qinghai Tibetans.Methods A case-control study was conducted on 100 Tibetan patients with congenital heart disease in Qinghai and 100 matched healthy controls.Extracting DNA from blood samples.Target gene fragments of FOXP1 coding region exons were amplificated by PCR,the qualified amplification products were sequenced and detected.Sequencing results were compared with reference sequences in the database(Gene Bank of NCBI)to find the mutation site of FOXP1,and the differences of FOXP1 exons gene polymorphism between case group and control group were analyzed.Results Exon sequencing results showed that in the case group,the 211 base mutation of exon 2 of FOXP1 gene resulted in non-synonymous mutation of amino acid 71(c.211 C>A,p.Q71 K),the mutation site has not been registered in Gene Bank library;the 733 base mutation of exon 6 of FOXP1 gene resulted in non-synonymous mutation of amino acid 245(c.733 A>G,p.T245 R),the mutation site has not been registered in Gene Bank library;the 852 base mutation of exon 6 of FOXP1 gene resulted in synonymous mutation of amino acid 283(c.852 C>T,p.H283 H),the mutation site is registered as rs201138716 in Gene Bank library;the 1762 base mutation of exon 15 of FOXP1 gene resulted in non-synonymous mutation of amino acid 588(c.1762 G>A,p.A588 T),the mutation site is registered as rs202173892 in Gene Bank library,these 4 mutation sites were not found in the control group.Conclusions Four polymorphic sites(two of which are newly discovered mutation sites)were detected in FOXP1 exon sequences of patients with congenital heart disease.These four single nucleotide polymorphisms may be associated to congenital heart disease of Tibetan in Qinghai.更多还原