Frequency of balanced reciprocal translocations from couples with recurrent miscarriages correlates with the density of Alu and L1 repeat elements: literature finding‑based study

Background Balanced reciprocal translocations constitute the most frequently encountered structural chromosome abnormality in couples experiencing recurrent miscarriages. The present work was undertaken to assess the relation between reported reciprocal translocations and the density of Alu and L1 repetitive elements in the human chromosomes. Patients and methods Data analyzed were obtained from 55 relevant articles that investigated 98 054 individuals. The overall prevalence of reciprocal translocations reached 2.31% and was 1.65 times more frequent in the female patients. The 2262 (1402 in females and 860 in males) counted translocations were tested for association with Alu and L1 densities using Pearson's correlation test. Results A strong positive correlation (r = 0.87–0.89,P≤ 0.0001) was observed between the frequency of translocations and the densities of L1 and Alu in the human genome. Conclusion The results thus obtained reinforce the involvement of Alu and L1 DNA repeat elements in the generation of reciprocal translocations.