良性家族性婴儿惊厥疾病基因的位点异质性研究

目的 研究 5个良性家族性婴儿惊厥 (benign familial infantile convulsion,BFIC)家系的疾病基因与BFIC位点的连锁关系以及是否存在疾病基因位点异质性。方法 选择 D19S2 45、D19S2 50、D16S3 13 1、D16S3 13 3、D2 S3 99、D2 S2 3 3 0等 6个 STR作为 DNA标记 ,应用聚合酶链反应 (PCR)、变性聚丙烯酰胺凝胶电泳 (PAGE)和银染技术 ,采用 L INKAGE软件包中的 ML INK程序及遗传分析程序 HOMOGM对 5个 BFIC家系进行连锁分析和位点异质性检测。结果 连锁分析结果显示 ,在 AD模式下 ,标记位点 D19S2 50处 ,家系 2、3、5在重组率为 0 .0 0 0 ,外显率为 90 %时 ,获得最大两点 L OD值总和为 2 .151;标记位点 D16S3 13 1处 ,家系 2、5在重组率为 0 .0 85,外显率为 70 %、60 %时 ,获得最大两点 L OD值分别为 1.0 56、1.155,提示这两个位点与疾病基因可能存在连锁关系。在其它位点处未获得提示连锁关系的信息。异质性检测显示 ,BFIC家系之间存在位点异质性。结论 BFIC致病基因可能与 D19S2 50或 D16S3 13 1存在连锁关系 ,BFIC存在位点异质性。

Boosting photocatalytic hydrogen production by creating isotype heterojunctions and single-atom active sites in highly-crystallized carbon nitride

Carbon nitride-based photocatalysts hold an enormous potential in producing hydrogen.A strategy to simultaneously create isotype heterojunctions and active sites in highly-crystallized carbon nitride is anticipated to significantly boost the photocatalytic activity,but is yet to be realized.Herein,we find that cobalt salt added in the ionothermal synthesis can promote the phase transition of heptazine-based crystalline carbon nitride(CCN)to triazine-based poly(triazine imide)(PTI),rendering the creation of singleatom cobalt coordinated isotype CCN/PTI heterojunction.Co-CCN/PTI exhibits an appreciable apparent quantum yield of 20.88%at 425 nm for photocatalytic hydrogen production with a rate achieving3538μmol h^(-1)g^(-1)(λ>420 nm),which is 4.8 times that of CCN and 27.6 times that of PTI.The high photocatalytic activity is attributed to the Type II isotype highly-crystallized CCN/PTI heterojunction for promoting charge carrier migration,and the single-atom Co sites for accelerating surface oxidation reaction.