摘要：Acellular porcine small intestinal submucosa(SIS)has been used for esophagoplasty with success in a canine ***,it did not lead to complete *** better reconstruction,a cellular component is ***,promotion of angiogenesis with copper has been widely recognized by basic research as well as clinical *** this study,we have evaluated the feasibility and effectiveness of combined Cu and SIS(SIS-Cu patch)for the esophageal repair using a canine *** male beagle dogs were subjected to surgical resection to produce cervical esophageal defects(5 cm in length,180°in range).SIS with Cu(5 or 25μmol L 1copper)or without Cu was patched on the esophageal *** esophagram and histology exam were carried out to evaluate the effectiveness of the *** shown,the SIS-Cu graft promoted re-epithelialization,re-vascularization and muscular ***-Cu patch is more effective than SIS alone for esophageal repair,and the SIS+25μmol L 1Cu group demonstrated additional advantages over the SIS+5μmol L 1Cu.

摘要：目的探讨单精子测序技术在植入前遗传学检测中的应用价值。方法针对1例FGFR3基因新发变异导致的软骨发育不良患者,应用单精子分离结合单精子测序技术完成单倍型的构建。用机械制动法分离20份单精子样本并进行全基因组扩增。设计变异位点及其上下游25个单核苷酸多态性(single nucleotide polymorphism,SNP)位点的扩增引物,对扩增产物进行检测,确定未携带以及携带致病变异的染色体单倍型。将12份胚胎滋养层细胞活检样本作为对象,在完成全基因组扩增后,通过高通量测序进行检测,判断胚胎携带致病变异的情况。选取可用囊胚进行移植。于孕19周抽取羊水样本,确认胎儿是否携带致病变异。结果通过单精子测序共筛选出8个SNP位点,成功构建单倍型。植入前单倍型分析提示5枚胚胎携带致病变异,7枚未携带。妊娠中期羊水基因检测证实胎儿未携带FGFR3基因c.1138G>A变异。结论对于携带新发致病变异的男性患者,可通过单精子测序筛选SNP位点,通过连锁分析构建单倍型,进行胚胎植入前遗传学检测。