STR profiling in a cohort of Saudi patients with acute leukemia

Objective: This study was aimed at characterizing whether the autosomal short tandem repeats (STRs) used in forensic identification might differ between leukemic blood samples and saliva samples. Methods: Blood and saliva samples were collected from 27 patients diagnosed with acute leukemia in Riyadh City, KSA. DNA was extracted, and 15 STR loci were amplified. Results: Approximately 59.3% of patients with leukemia exhibited mutations at the STR loci. Loss of heterozygosity (LOH) occurred in 40.7% of the patients at D19S433, D16S539, vWA, D13S317, TH01, FGA, and D2S1338. Microsatellite instability (MSI) was detected in 22.2% of patients at TPOX, vWA, D19S433, D16S539, and D18S51. D19S433 and D16S539 were the most affected loci, exhibiting an alteration percentage of 18.52%, followed by vWA (11.11%); in contrast, D2S1338, D18S51, and TPOX were the least affected loci, showing a mutation percentage of 3.7%. D13S317, TH01, and FGA showed moderate genetic mutation (7.41%). CSF1PO, D21S11, D3S1358, D5S818, D7S820, D8S1179, and amelogenin did not show genetic changes in all samples. The overall genetic variability between saliva and blood samples significantly differed (P < 0.001). Conclusion: Our results demonstrate the potential application of forensically used STR loci in diagnosis and monitoring of patients with leukemia. Further study applying next generation sequencing technology is necessary to validate these findings and explore the clinical applications of forensically used STRs as diagnostic tools for leukemia.

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