Alhatim Husein A, Abdullah Muhammad Nh, Jamaludin Suhaili A, Nurdin Armania B, Amer Sayed A
Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Malaysia.
Department of Forensic Sciences, College of Criminal Justice, Naif Arab University for Security Sciences, KSA.
J Taibah Univ Med Sci. 2025 Feb 10;20(1):62-72. doi: 10.1016/j.jtumed.2025.01.003. eCollection 2025 Feb.
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.
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.
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 ( < 0.001).
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.
本研究旨在确定用于法医鉴定的常染色体短串联重复序列（STR）在白血病血液样本和唾液样本之间是否存在差异。
从沙特阿拉伯利雅得市27例诊断为急性白血病的患者中采集血液和唾液样本。提取DNA，并扩增15个STR位点。
约59.3%的白血病患者在STR位点出现突变。40.7%的患者在D19S433、D16S539、vWA、D13S317、TH01、FGA和D2S1338位点发生杂合性缺失（LOH）。22.2%的患者在TPOX、vWA、D19S433、D16S539和D18S51位点检测到微卫星不稳定性（MSI）。D19S433和D16S539是受影响最严重的位点，改变百分比为18.52%，其次是vWA（11.11%）；相比之下，D2S1338、D18S51和TPOX是受影响最小的位点，突变百分比为3.7%。D13S317、TH01和FGA显示中度基因突变（7.41%）。CSF1PO、D21S11、D3S1358、D5S818、D7S820、D8S1179和牙釉蛋白在所有样本中均未显示基因变化。唾液样本和血液样本之间的总体遗传变异性存在显著差异（<0.001）。
我们的结果证明了法医使用的STR位点在白血病患者诊断和监测中的潜在应用。有必要进一步应用下一代测序技术进行研究，以验证这些发现，并探索法医使用的STR作为白血病诊断工具的临床应用。
