应用Bac on Beads技术产前诊断22q11微重复综合征三例

目的应用多种技术对3例22q11.2微重复综合征进行产前诊断,探讨22q11.2微重复综合征胎儿的遗传学特征。方法应用染色体G带、BAC on Beads技术、荧光原位杂交技术和SNP array技术从多个水平对3例22q11.2微重复综合征胎儿断裂位点进行识别与定位。结果 3例经由BAC on Beads技术发现的22q11.2微重复综合征胎儿均经荧光原位杂交技术和SNP array技术证实存在2.8Mb-3.1Mb不等微重复,其中一例经芯片验证为遗传自父亲。结论 BAC on Beads技术应用于产前诊断有利于发现微缺失微重复综合征,避免漏诊。

Imaging Analysis Based on Electrogenerated Chemiluminescence

Electrochemiluminescence(ECL),also called electrogenerated chemiluminescence,is luminescence that is produced by chemical reactions triggered by electrochemical method.ECL imaging is a novel imaging technique,which can simultaneously provide two kinds of signals of both electrochemistry and optical image.Over the past two decades,ECL imaging has been not only a powerful tool for investigating the fundamental scientific questions such as ECL mechanisms and reaction kinetics,but also a versatile analytical technique for detection of a wide range of analytes including small molecules,DNA,proteins,and cells.In the first part of this review,we briefly describe the reaction mechanisms of ECL generation.Then the review focuses on the research progress on the ECL imaging approach.It is basically introduced from the following five aspects:(i)visualization of electroactive sites on surfaces,(ii)imaging analysis at the single-bead and single-cell levels,(iii)array bioanalysis,(iv)multi-color ECL imaging,and(v)paper chip based on ECL imaging.Finally,some perspectives and future directions in this active research area are presented.

Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers

Background The clinical presentations of frontotemporal dementia(FTD)are diverse and overlap with other neurological disorders.There are,as of today,no biomarkers in clinical practice for diagnosing the disorders.Here,we aimed to find protein markers in cerebrospinal fluid(CSF)from patients with FTD,presymptomatic mutation carriers and non-carriers.Methods Antibody suspension bead arrays were used to analyse 328 proteins in CSF from patients with behavioural variant FTD(bvFTD,n=16)and progressive primary aphasia(PPA,n=13),as well as presymptomatic mutation carriers(PMC,n=16)and non-carriers(NC,n=8).A total of 492 antibodies were used to measure protein levels by direct labelling of the CSF samples.The findings were further examined in an independent cohort including 13 FTD patients,79 patients with Alzheimer’s disease and 18 healthy controls.Results We found significantly altered protein levels in CSF from FTD patients compared to unaffected individuals(PMC and NC)for 26 proteins.The analysis show patterns of separation between unaffected individuals and FTD patients,especially for those with a clinical diagnosis of bvFTD.The most statistically significant differences in protein levels were found for VGF,TN-R,NPTXR,TMEM132D,PDYN and NF-M.Patients with FTD were found to have higher levels of TN-R and NF-M,and lower levels of VGF,NPTXR,TMEM132D and PDYN,compared to unaffected individuals.The main findings were reproduced in the independent cohort.Conclusion In this pilot study,we show a separation of FTD patients from unaffected individuals based on protein levels in CSF.Further investigation is required to explore the CSF profiles in larger cohorts,but the results presented here has the potential to enable future clinical utilization of these potential biomarkers within FTD.