Publications by authors named "Farid Abada"
Article Synopsis
- A study found that 75% of infertile men with a specific type of sperm, called globozoospermia, had a significant genetic deletion affecting the DPY19L2 gene, caused by a process called Non-Allelic Homologous Recombination (NAHR).
- The research revealed that the expected occurrence of deletions was observed, but surprisingly, duplications of the gene were more common in the general population, suggesting a complex relationship influenced by evolutionary factors.
- The team identified the exact spots on the gene where the deletions and duplications occurred, linking these genetic events to a specific recognition sequence, which indicates a connection between this sequence and the NAHR process.
Article Synopsis
- The study aimed to discover new mutations in the AURKC gene of patients with macrozoospermia and to explore the relationship between their genetic changes and observed phenotypes.
- Researchers discovered a new non-sense mutation, p.Y248*, which accounts for 13% of all mutant alleles, but found no phenotype differences compared to the previously known main mutation, c.144delC.
- The study involved 87 patients with primary infertility from multiple countries, where sperm analysis and extensive molecular testing of the AURKC gene were conducted to assess the mutations and their impacts.
Article Synopsis
- This study explores whether heterozygous deletions and point mutations in the DPY19L2 gene contribute to cases of globozoospermia, a rare form of male infertility characterized by round-headed sperm lacking acrosomes.
- Researchers identified two heterozygous deletions and three point mutations in the DPY19L2 gene among patients, confirming its significant role in globozoospermia and suggesting continued molecular diagnostics even without homozygous deletions.
- The study involved 34 patients and utilized advanced genetic testing techniques to identify genetic alterations while ensuring no frequent non-pathological variations were mistaken for harmful mutations.
Am J Hum Genet
March 2011
Article Synopsis
- Many couples in Western countries rely on medical help for pregnancy, with over 2% of births resulting from assisted reproductive technologies.
- A study focused on a specific infertility condition, total globozoospermia, found that 75% of the patients had a deletion in a gene called DPY19L2, which is important for sperm development.
- This discovery allows for a molecular diagnosis in men with globozoospermia, confirming the condition and indicating a lower chance of success with in vitro fertilization.
