错义突变
桑格测序
生物
突变体
人类遗传学
免疫荧光
遗传咨询
遗传学
突变蛋白
分子生物学
污渍
突变
男性不育
基因
不育
抗体
怀孕
作者
Mi Lu,Shuai Kong,Mingfei Xiang,Yu Wang,Jingjing Zhang,Zongliu Duan,Xiaomin Zha,Fengsong Wang,Yunxia Cao,Fuxi Zhu
标识
DOI:10.1007/s10815-021-02075-7
摘要
To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome.Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments.We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient.Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.
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