目的:检测9例毛囊角化病(Darier s disease,DD)患者的基因突变。方法:提取1家系中2例患者、7例散发患者及100名正常对照外周血基因组DNA,用Sanger测序检测9例DD患者ATP2A2的致病突变。对不携带ATP2A2突变的患者,应用全外显子组测序(WES...目的:检测9例毛囊角化病(Darier s disease,DD)患者的基因突变。方法:提取1家系中2例患者、7例散发患者及100名正常对照外周血基因组DNA,用Sanger测序检测9例DD患者ATP2A2的致病突变。对不携带ATP2A2突变的患者,应用全外显子组测序(WES)寻找可能导致该疾病的其他变异。364名健康对照被纳入突变筛选。可疑的变异通过Sanger测序进行确认。结果:通过Sanger测序,我们发现9例DD患者中有5例出现了ATP2A2突变,包括1例报道过的突变和3例新突变。在其余病例中,WES鉴定了四个ATP酶基因(ITPR3、ATP2B2、RYR1和PLCB1)中的4个变异,均参与钙信号通路。结论:本研究中发现了4个ATP2A2基因突变,其中3个为新发突变,丰富了ATP2A2基因突变谱,并提示四种ATP酶基因变异可能与DD相关。展开更多
In order to explore the influence of the polymorphism in the 20intron region of the Sansui duck ATP2A2 gene on the eggshell quality,this study used Primer Premier 5 software to design and synthesize a pair of primers ...In order to explore the influence of the polymorphism in the 20intron region of the Sansui duck ATP2A2 gene on the eggshell quality,this study used Primer Premier 5 software to design and synthesize a pair of primers in the 20 intron region,two-way direct sequencing and sequence alignment to mine SNPs Sites,SPSS 18.0 software was used to analyze the relationship between SNP sites and eggshell quality of Sansui duck.Three SNP sites were found in the 20 intron region of the ATP2A2 gene:g.40874 T>C,g.40920 G>A and g.40990 T=C,all of which were moderately polymorphic,at the site g.40874 T>C and g.40920 G>A both deviated significantly from Hardy-Weinberg equilibrium(P>0.05),position g.40990 T=C accords with Hardy-Weinberg equilibrium(P<0.05),and position g.40874 T>C There is a strong linkage disequilibrium between g.40990 T=C;a total of 4 haplotypes and 9 double types were detected at 3 SNP loci;the results of association analysis showed that g.40874 T>C mutation had a significant effect on eggshell strength and eggshell weight.The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes(P<0.05),the eggshell weight of CC genotype was significantly higher than that of TC genotype(P<0.05),and 40990 T=C mutation had a significant effect on eggshell strength.The eggshell strength of TC genotype was significantly higher than that of the TT genotype(P<0.05).In summary,the g.40874 T>C and g.40990 T=C found in the 20th intron region of the Sansui duck ATP2A2 gene may be the marker sites that affect the quality of the eggshell.展开更多
文摘目的:检测9例毛囊角化病(Darier s disease,DD)患者的基因突变。方法:提取1家系中2例患者、7例散发患者及100名正常对照外周血基因组DNA,用Sanger测序检测9例DD患者ATP2A2的致病突变。对不携带ATP2A2突变的患者,应用全外显子组测序(WES)寻找可能导致该疾病的其他变异。364名健康对照被纳入突变筛选。可疑的变异通过Sanger测序进行确认。结果:通过Sanger测序,我们发现9例DD患者中有5例出现了ATP2A2突变,包括1例报道过的突变和3例新突变。在其余病例中,WES鉴定了四个ATP酶基因(ITPR3、ATP2B2、RYR1和PLCB1)中的4个变异,均参与钙信号通路。结论:本研究中发现了4个ATP2A2基因突变,其中3个为新发突变,丰富了ATP2A2基因突变谱,并提示四种ATP酶基因变异可能与DD相关。
基金Project supported by the National Natural Science Foundation of China(31760663).
文摘In order to explore the influence of the polymorphism in the 20intron region of the Sansui duck ATP2A2 gene on the eggshell quality,this study used Primer Premier 5 software to design and synthesize a pair of primers in the 20 intron region,two-way direct sequencing and sequence alignment to mine SNPs Sites,SPSS 18.0 software was used to analyze the relationship between SNP sites and eggshell quality of Sansui duck.Three SNP sites were found in the 20 intron region of the ATP2A2 gene:g.40874 T>C,g.40920 G>A and g.40990 T=C,all of which were moderately polymorphic,at the site g.40874 T>C and g.40920 G>A both deviated significantly from Hardy-Weinberg equilibrium(P>0.05),position g.40990 T=C accords with Hardy-Weinberg equilibrium(P<0.05),and position g.40874 T>C There is a strong linkage disequilibrium between g.40990 T=C;a total of 4 haplotypes and 9 double types were detected at 3 SNP loci;the results of association analysis showed that g.40874 T>C mutation had a significant effect on eggshell strength and eggshell weight.The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes(P<0.05),the eggshell weight of CC genotype was significantly higher than that of TC genotype(P<0.05),and 40990 T=C mutation had a significant effect on eggshell strength.The eggshell strength of TC genotype was significantly higher than that of the TT genotype(P<0.05).In summary,the g.40874 T>C and g.40990 T=C found in the 20th intron region of the Sansui duck ATP2A2 gene may be the marker sites that affect the quality of the eggshell.
