Objective:To explore the effect of Cfap65 deficiency on mouse spermatogenesis. Methods:CRISPR/Cas9 technology was utilized to construct Cfap65 deficient mice. PCR and Sanger sequencing were adopted to identify mouse genotypes. Mice were divided into Cfap65-/- group ( n=3) and wild-type (WT) group ( n=3) based on genotypes of mice. Fertility test was applied to evaluate the fertility of mice. Sperm morphology of Cfap65 deficient mice was observed by hematoxylin-eosin (HE) staining, immunofluorescence and transmission electron microscope. Real-time fluorescent quantitative PCR was used to detect the expression of Cfap65 mRNA in heart, liver, spleen, lung, kidney and testis tissues of mice. Results:Cfap65 deficient male mice were completely infertile. Compared with wild-type male mice, Cfap65 deficient mice had fewer and less motile epididymal spermatozoa, whose flagellums tend to be short, curled, bent and even absent, and heads tend to be deformed (1.67%±0.44% vs. 33.00%±1.53%), and the differences were statistically significant ( P<0.001). Besides, Cfap65 deficiency led to anomalous structure of manchette of mice. Cfap65 was highly expressed in the testes and lung of adult mice, and the expression of Cfap65 in testes embodied a sharp increase trend from mice aged 4 to 6 weeks (901.90±33.19 vs. 2 144.00±22.92), and the differences were statistically significant ( P<0.001). Conclusion:The expression of Cfap65 is tissue-specific, and the deletion of Cfap65 leads to spermatogenesis failure in male mice, which might be related to the dysfunction of intra-manchette transport.

Objective:To explore the effect of Cfap65 deficiency on mouse spermatogenesis. Methods:CRISPR/Cas9 technology was utilized to construct Cfap65 deficient mice. PCR and Sanger sequencing were adopted to identify mouse genotypes. Mice were divided into Cfap65-/- group ( n=3) and wild-type (WT) group ( n=3) based on genotypes of mice. Fertility test was applied to evaluate the fertility of mice. Sperm morphology of Cfap65 deficient mice was observed by hematoxylin-eosin (HE) staining, immunofluorescence and transmission electron microscope. Real-time fluorescent quantitative PCR was used to detect the expression of Cfap65 mRNA in heart, liver, spleen, lung, kidney and testis tissues of mice. Results:Cfap65 deficient male mice were completely infertile. Compared with wild-type male mice, Cfap65 deficient mice had fewer and less motile epididymal spermatozoa, whose flagellums tend to be short, curled, bent and even absent, and heads tend to be deformed (1.67%±0.44% vs. 33.00%±1.53%), and the differences were statistically significant ( P<0.001). Besides, Cfap65 deficiency led to anomalous structure of manchette of mice. Cfap65 was highly expressed in the testes and lung of adult mice, and the expression of Cfap65 in testes embodied a sharp increase trend from mice aged 4 to 6 weeks (901.90±33.19 vs. 2 144.00±22.92), and the differences were statistically significant ( P<0.001). Conclusion:The expression of Cfap65 is tissue-specific, and the deletion of Cfap65 leads to spermatogenesis failure in male mice, which might be related to the dysfunction of intra-manchette transport.

Multiple morphological abnormalities of sperm flagella (MMAF) is a type of teratospermia caused by genetic defects. The sperm motility is low due to absence of flagella, shortness, curling, bending or irregularity of sperms, and combination of various abnormalities. Ultrastructure may show flagellum assembly abnormalities, which are mainly manifested by the absence of microtubules in the axoneme and defects of various structures such as fibrous sheath, outer dense fiber, mitochondrial sheath and dynein arms. MMAF males are unable to reproduce naturally and require assisted reproductive technology to obtain offsprings. For the heterogeneity of molecular etiology of MMAF, the outcome of assisted reproduction may be different. Here the candidate genes of MMAF and their functional mechanisms are summarized, which may provide a reference for clinical diagnosis, treatment and research for this disorder.

OBJECTIVE To investigate the correlation between benign paroxysmal positional vertigo (BPPV) and bone mineral density (BMD) in menopausal women with BPPV.METHODS 50 patients between the ages of 50-80 years old of menopausal women with Idiopathic benign paroxysmal positional vertigo(iBPPV)as case group,and postmenopausal healthy people of same age doing physical examinations in hospital medical examination center were selected as control group.The lumbar spine(L1-L4) and femoral neck were measured respectively using dual energy X-ray absorptiometry and expressed in T value.The case group and the control group were divided into three age groups,and the T values of three age groups were statistically analyzed.RESULTS There was significant correlation between the case group and control group(The t values are-3.68、-5.98 and-3.33,respectively,P＜0.05).Pearson correlation analysis showed that there was a negative correlation between iBPPV and bone mineral density(BMD) (r=-0.496,P＜0.05).CONCLUSION There was a correlation between benign paroxysmal positional vertigo and BMD in menopausal women.The results of this study may be helpful for the diagnosis,treatment,prognosis and precaution of iBPPV.

Blepharophimosis ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Skin Abnormalities ; diagnosis ; genetics ; Urogenital Abnormalities