The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology

Aim： To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor （AZF） region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. Methods： In total, 178 infertile patients with azoospermia （nonobstructed）, 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array （MASA） technology. Results： Of the 312 patients, 36 （11.5%） were found to have deletions in the AZF region. The rnicrodeletion frequency was 14% （25/178） in the azoospermia group and 8.2% （11/134） in the oligospermia group. Among 36 patients with microdeletions, 19 had deletions in the AZFc region, seven had deletions in AZFa and six had deletions in AZFb. In addition, four patients had both AZFb and AZFc deletions. No deletion in the AZF region was found in the 40 fertile controls. Conclusion： There is a high prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. The MASA technology, which has been established in the present study, provides a sensitive and high-throughput method for detecting the deletion of the Y chromosome. And the results suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

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.