翻译成英文-方法：-收集来自安徽医科大学第二附属医院呼吸与危重症医学科以及安徽医科大学第一附属医院生殖医学中心的10例临床高度怀疑PCD的患者其中7例父母为近亲婚配2例为亲兄弟分别编号为PCD1-PCD10患者知情同意下抽取外周血进行对其外周血样进行WES测序、数据过滤、变异筛选以及生物信息学分析：首先通过文献和数据库调研整理目前已知的PCD致病基因及遗传模式将筛选出来的变异信息与其进行比对筛选出患者携带的已知致病基因突变；其次已知致病基因未能解释的病例中结合患者的家系情况重点关注低频、纤毛中特

Method: We collected peripheral blood samples from 10 highly suspected PCD patients (7 of whom had consanguineous parents, and 2 were siblings) from the Respiratory and Critical Care Medicine Department of the Second Affiliated Hospital of Anhui Medical University and the Reproductive Medical Center of the First Affiliated Hospital of Anhui Medical University. The patients were numbered as PCD1-PCD10, and we performed whole-exome sequencing (WES), data filtering, mutation screening, and bioinformatics analysis on their peripheral blood samples with their informed consent. Firstly, we conducted literature and database research to compile the known pathogenic genes and inheritance patterns of PCD, and compared the screened mutation information to identify the known pathogenic gene mutations carried by the patients. Secondly, for cases where the known pathogenic genes could not explain the disease, we focused on genes with low frequency, cilia-specific expression, high abundance expression, and specific functions in combination with the patients' family history to screen for new candidate pathogenic genes of PCD. Thirdly, we used Sanger sequencing to validate the identified known pathogenic gene mutations and candidate pathogenic gene mutations and performed co-segregation analysis to determine the origin of the variants. Finally, considering the invasiveness of obtaining respiratory cilia and the similarity between respiratory cilia and sperm flagella, we used transmission electron microscopy to detect ultrastructural alterations in sperm flagella in male patients' sperm samples and used H&E staining, immunofluorescence, real-time fluorescent PCR, and Western blotting to screen for changes in the quantitative and positional expression of the mutated genes in sperm.