Settler Colonial and Indigenous Studies, Sociology of Knowledge, Museology, Collective memory, Art-washing رسالة ماجستير

Abstract

Infertility is defined as the inability to become pregnant after more than 12 months of frequent unprotected intercourse. Male infertility is classified in four categories: spermatogenic quantitative defects, spermatogenic qualitative defects, hypothalamic pituitary axis disturbances, and ductal obstruction or dysfunction. Genetic factors are responsible for at least 15% of male infertility and significantly contribute to all four aetiological categories of male infertility. Azoospermia is the overall absence of sperm in the ejaculate. Any class other than ductal obstruction or dysfunction is considered non obstructive azoospermia. In genetic aetiologies, several genes seem to contribute to male infertility, including MEIOB, TEX11, STAG3, SYCP3, and DMC1. This study aims to identify precise genetic causes of inherited male infertility in Palestinian families with two or more siblings in each family are diagnosed with idiopathic male infertility. Two Palestinian families with several affected members with idiopathic non-obstructive azoospermia were included. one affected member of each family was selected for whole exome sequencing, and the results of the VCF file were filtered. The variants with the highest phenotype correlation score ≥ 0.75, including two variants from family I and five variants from family II, were tested by Sanger sequencing across all family members. The suspected variants in family 1 were examined and analyzed by in-silico bioinformatics tools, including CFAP47 and SYCE1 gene variants. Primarily, the SYCE1 p.Q241* variant followed autosomal recessive inheritance and was validated and well segregated in the family. In family II, variants in the RBBP7, CEP112, POLG-1, POLG-2, and HFE genes were recognized and assessed. The RBBP7 p.Thr256Pro variant followed X-linked recessive inheritance, which was verified and segregated as expected. In summary, SYCE1 p.Q241* and RBBP7 p.Thr256Pro variants are suggested to be associated with non-obstructive azoospermia in the two affected families in this study. Additional research and functional assays will be required to definitively confirm these results and reveal their distinctive role in the development of male infertility. This data will be helpful for patient screening and evaluation while additionally emphasizing the potential relevance of these genes as therapeutic targets.