A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi’an

Background

This study is a comprehensive analysis of RHD in D-negative phenotypes in saline, in Xi’an, Shanxi province, central China.

Material and methods

DCcEe in saline was measured for each blood sample from every donor between January 2008 and June 2012 in the Xi’an Blood Centre, China. D-negative results were confirmed by an indirect antiglobulin test and further investigated by adsorption-elution as required. The initial step of molecular analysis was RHD zygosity testing. Then RHD was detected by a sequence-specific polymerase chain reaction system for RHD(1227G>A), weak D type 15, and RHD(711delC) alleles for the samples carrying at least one RHD. For the remaining non-identified samples, ten RHD exons were amplified using a previously widely used RHD coding region sequencing method. Some RHD/RHCE conversion alleles were identified while those remaining were submitted to direct sequencing.

Results

Overall, 2,493 D-negative samples in saline were detected in a total of 890,403 donors (D-negative rate, 0.28%). Among the D-negative individuals, RHD deletion (d/d) was assessed in 1685 donors (67.59%). Non-functional RHD alleles were detected in 184 donors (7.38%), the most common being the RHD-CE(2–9)-RHD and RHD(711delC) alleles. Two new alleles were observed and family investigations were performed; RHD(1227G>A) DEL was detected in 516 individuals (20.70%), and weak D or partial D variants were identified in 108 donors (4.33%). The most common alleles were weak D type 15, D^VI type 3 and D^V type 2. Four new weak D alleles were noted, and two cases of RHD(1227G>A)/weak D type 15 heterozygosity were confirmed.

Conclusions

Currently, it seems to be difficult to observe any new RHD alleles in the Han Chinese population. D prediction in this population is easier because popular alleles are dominant, accounting for about 99.80% of alleles in D-negative people. Weak D types and partial D variants are rare and occur in approximately 0.01% of the population.     

CREPT在肾癌组织中的表达及其与预后的关系

目的 探讨肾癌组织中肿瘤细胞周期相关蛋白（cell-cycle-related and expression-elevated protein in tumor,CREPT）的表达与临床病理特征和生存率的关系。方法 纳入90例于2014至2016年间在北京大学人民医院接受了根治性肾切除术并经组织学证实的肾癌患者,运用免疫组织化学方法检测这些患者的癌组织和癌旁组织中CREPT的表达,并结合临床病理资料分析CREPT表达水平与患者TNM分期和Fuhrman分级的关系。通过Kaplan-Meier生存分析及多因素COX回归分析CREPT表达与预后的关系。结果 46.7%（42/90）的患者癌组织中CREPT表达为高水平,而在癌旁组织中所有患者CREPT表达均为低水平,组间比较差异有统计学意义（P<0.05）。CREPT的表达水平与TNM分期（P=0.001）和Fuhrman分级（P<0.001）有关联,但与性别（P=0.149）、年龄（P=0.605）、肿瘤大小（P=0.673）和组织学类型（P=0.756）无关。截至2018年12月,有85例患者完成随访。Kaplan-Meier分析显示,CREPT高表达患者总生存时间和无瘤生存时间均低于CREPT低表达患者,差异有统计学意义（P<0.05）。多因素COX回归分析显示,患者总生存时间及无瘤生存时间与CREPT的表达水平有关（P<0.05）。结论 CREPT在肾癌组织中呈高表达,表达水平与临床分期、分级以及患者预后密切相关。     

钙离子-钙调磷酸酶对肺成纤维细胞表型转化的影响

目的探讨钙离子-钙调磷酸酶在大鼠肺成纤维细胞向肺肌成纤维细胞表型转化中的作用。方法体外分离培养大鼠肺成纤维细胞,免疫组织化学法检测波形蛋白鉴定细胞;以Fluo3-AM为钙离子荧光示踪剂,激光共聚焦显微镜检测细胞内基础Ca2＋水平以及给予转化生长因子β1（TGF-β1）刺激后细胞内钙离子水平变化;Westernblot检测各组细胞内α—sMA、P—Smad2的表达。结果①大鼠肺成纤维细胞波形蛋白胞浆表达呈阳性;②TGF-β1刺激后大鼠肺成纤维细胞胞内钙离子水平升高;③TGF—β1刺激组,α—SMA表达明显增加,加用环孢素A后不能抑制a-SMA的表达;TGF-β1与环孢素A共刺激1h、4h、24h各组与TGF-β1刺激组相比,p-Smad2水平均明显增加,且以环孢素A作用1h增加最为明显,而4h组和24h组比较差异无统计学意义。结论TGF-β1刺激后大鼠肺成纤维细胞胞内钙离子水平升高。钙调磷酸酶可能参与肺成纤维细胞向肺肌成纤维细胞表型转化。     

军团菌肺炎诊断方法的研究进展

军团菌是引起社区获得性肺炎的不典型致病菌之一.军团菌肺炎病死率高,且临床诊断困难.目前已应用于临床的检测方法有培养法、尿抗原检测法、直接免疫荧光抗体法及血清抗体检测法,每种方法都各有利弊.近年来出现的PCR法、流式细胞学法及MALDI-TOF-MS法具有早期诊断、快速、简便等特点,但多处于研究阶段或仅在少数专业实验室中应用.本文就目前军团菌肺炎的诊断方法进行介绍,以协助提高该病的诊断水平.