不同扩增方法和探针长度对植入前单个卵裂球比较基因组杂交检测结果的影响

Objective To investigate the effect of different amplification methods and probes with various length on the results of comparative genomic hybridization (CGH) analysis of pre-implanted single blastomere and to establish the basis for preimplantation genetic diagnosis.Methods Twenty blastomeres of embryo at 6-8 cells stage were randomly divided into A and B group with 10 in each.Twenty peripheral blood lymphocytes from a healthy man were similarly divided into C and D group with 10 in each.Degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) was used to amplify whole genomic DNA in group A and C,and multiple displacement amplification (MDA) was used in group B and D for whole genome amplification (WGA).The specificity of resultant products was confirmed by amplification of TBX1 gene exon 2.CGH was performed respectively with 250-750 bp and 750-2000 bp probes prepared from the amplified whole genomic DNA.The result of CGH was verified by sex-determining region of Y (SRY).Results (1) Nine of the 10 samples in group A and all in group C were amplifiable by DOP-PCR,but there were multiple non-specific bands in the amplification of TBX1 exon 2 when WGA products were used as templates.When 250～750 bp probe was used in CGH,1 of the 5 blastomeres was failed and another one had different karyotype from that analyzed by SRY.(2) All samples in group B and D were successfully amplified by MDA,and the non-specific bands were significantly less in the amplification of TBX1 exon 2.All 5 blastomeres were successful in CGH with the 250～750 bp probe.Moreover,the karyotype was in agreement with that of SRY.(3) When 750 ～ 2000 bp probe was used,the CGH results were suboptimal.Conclusions In WGA of single blastomere,MDA is superior to DOP-PCR in the stability and specificity.The karyotype image detected by CGH with the 250～750 bp probe is clear and homogenous.     

人工颈椎间盘置换术后并发症的观察及护理

总结人工颈椎间盘置换术后并发症的观察及护理.术后有喉上神经及喉返神经损伤、脊髓神经根受损、颈前血肿、喉头水肿、人工颈椎间盘滑脱引起窒息、脑脊液漏等并发症.护理重点是严密观察病情,采取有效预防护理措施,减少并发症的发生,使患者早日康复.     

血浆蛋白水平对间接离子选择电极法检测钾钠氯离子的影响

目的探讨血浆蛋白水平变化导致间接和直接离子选择电极法(ISE)结果间存在的差异,揭示直接ISE与间接ISE测定血浆钾、钠、氯离子结果之间的差异与血浆蛋白水平之间的关系。方法选取低、中、高血浆蛋白的独立样本,研究直接与间接离子选择电极法对血浆钾、钠、氯检测结果差异以及与蛋白水平之间的线性关系。结果间接法与直接法检测钠离子结果差异有统计学意义(P<0.05),钠离子结果差异与总蛋白、清蛋白离子回归方程分别为Y=-0.129 4 X+9.604 1和Y=-0.195 X+7.807 8,相关系数r(r2)分别为0.76(0.57)和0.61(0.37),均P<0.001。结论采用间接ISE法检测血浆钠离子时,对血浆蛋白水平的变化具有影响,直接与间接ISE法检测血浆钠离子结果差异和总蛋白、白蛋白水平之间线性回归等式可以成立。在总蛋白和(或)清蛋白水平明显异常时,直接ISE法测定血浆钠离子结果应当作为临床正确的依据。     

男性乳房发育症患者乳晕小切口联合脂肪抽吸术的护理

对65例男性乳房发育症患者行乳晕小切口联合脂肪抽吸术,并予以术前心理护理、各项术前检查和皮肤准备,术中有效配合,术后密切观察、加强伤口及引流管护理以及健康教育,结果全部患者顺利完成手术,无术后血肿、乳头乳晕坏死、感染等并发症发生。术后随访6～12个月,9例乳头乳晕感觉轻度减退者恢复良好,其余患者未发现感觉改变。     

奇正青鹏膏剂外敷配合手术治疗距骨骨折临床疗效分析

目的:观察奇正青鹏膏剂在外敷配合手术治疗距骨骨折的临床疗效。方法:将33例病人随机分为二组,治疗组术前术后均使用奇正青鹏膏剂,对照组单纯行手术治疗,观察两组在术前待术时间、手术时间、术中出血量、术后离床时间、术后并发症发生人数及优良率进行疗效对比。结果:治疗组16例均随访,随访时间6～13个月,平均(10.2±3.52)月;对照组17例均获随访,随访时间6～13月,平均(10.2±3.55)月,手术时间、术中出血、术后离床时间,P>0.01,二者比较差异无统计学意义。二组术前术后肢体肿胀时间、术前待术时间、术后一年踝关节疗效评定,二者比较差异有统计学意义,P<0.01;术后并发症:二者差异有统计学意义,P<0.01。结论:奇正青鹏膏剂外敷配合手术治疗距骨骨折或骨折伴脱位疗效好。     

因子Ⅷ基因倒位的检测与血友病甲的分子诊断

应用Ｓｏｕｔｈｅｒｎ印迹杂交技术，分析了３６个无亲缘关系的血友病甲家系共９８名成员的凝血因子ＶＩＩＩ（ＦＶＩＩＩ）基因倒位。１２个（３３．３％）家系显示内含子２２倒位，其中１０个为远端倒位，２个为近端倒位。此１２例皆为重型患者，占全部２３例重型患者的５２．２％，证实ＦＶＩＩＩ基因倒位是中国人重型血友病甲最重要的分子缺陷。ＦＶＩＩＩ基因倒位分析既可以揭示血友病甲患者的分子缺陷，又可以直接用于血友病甲的分子诊断。     

比较基因组杂交技术的研究进展

比较基因组杂交是在荧光原位杂交的基础上建立起来的一种细胞-分子遗传学技术.该技术无需细胞培养,通过1次检测即能筛查整个基因组DNA拷贝数的增减,检测周期短,效率高.在染色体数目异常、染色体复杂结构异常及标记染色体来源判定等方面均具有明显的诊断优势,已被广泛应用于寻找肿瘤、出生缺陷及遗传病的染色体致病位点和探索新的肿瘤相关基因及遗传综合征等领域.高分辨染色体制备技术及基因克隆技术的先后引入将比较基因组杂交技术的分辨率不断提高,使之真正成为了连接细胞遗传学与分子遗传学的桥梁技术.高分辨比较基因组杂交技术因耗费低、可行性高而具有较高的临床推广价值.     

高龄股骨颈骨折并存代谢综合征的并发症预防及护理

总结高龄股骨颈骨折并存代谢综合征的并发症预防及护理。常见并发症为感染、栓塞、心律失常、消化性溃疡及急性精神紊乱。正确评估,采取有效的护理措施,能降低并发症的发生率,促进患者早日康复。