Vázquez-Reyes A, Bobadilla-Morales L, Barba-Barba C, Macías-Salcedo G, Serafín-Saucedo G, Velázquez-Rivera M E, Almodóvar-Cuevas M C, Márquez-Mora A, Pimentel-Gutiérrez H J, Ortega-de-la-Torre C, Cruz-Osorio R M, Nava-Gervasio S, Rivera-Vargas J, Sánchez-Zubieta F, Corona-Rivera J R, Corona-Rivera A
Laboratorio de Citogenética, Genotoxicidad y Biomonitoreo, Instituto de Genética Humana "Dr. Enrique Corona", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Doctorado en Ciencias en Biología Molecular en Medicina, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
Laboratorio de Citogenética, Genotoxicidad y Biomonitoreo, Instituto de Genética Humana "Dr. Enrique Corona", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Unidad de Citogenética, División de Pediatría, Nuevo Hospital Civil "Dr. Juan I. Menchaca", Guadalajara, Jalisco, Mexico; Servicio de Genética Médica, División de Pediatría, Nuevo Hospital Civil "Dr. Juan I. Menchaca", Guadalajara, Jalisco, Mexico.
Leuk Res. 2017 Aug;59:117-123. doi: 10.1016/j.leukres.2017.05.022. Epub 2017 Jun 1.
Three-quarters of the patients with acute lymphoblastic leukemia (ALL), show numerical or structural chromosomal alterations, which are important factors in leukemogenesis. The use of Multiplex Ligation-dependent Probes Amplification (MLPA) has been mainly limited for searching copy number alterations of genes, suggesting that MLPA could detect numerical alterations in cancer. However, the use of MLPA in pediatrics to analyze subtelomeric sequences for aneuploidy detection has not been considered in previous studies. The aim of this study was to identify aneuploidy for the first time using MLPA and correlate the results with karyotype and DNA-index (DI), from preB ALL patients. Forty-two bone marrow samples were analyzed by cytogenetics and flow cytometry to determine the DI. The chromosomal gains and/or losses were detected by the SALSA MLPA P036 Subtelomere Mix 1 probemix. The chromosomal number matched in 36 out of 42 samples between MLPA and karyotype (R=0.7829, p=3.7×10), 18/42 between MLPA and DI (R=0.1556, p=0.023), and 20/42 between karyotype and DI (R=0.1509, p=0.015). MLPA results correlated with karyotype and DI. The use of MLPA led us to identify a gained marker chromosome. Our results indicate that MLPA could be a useful and fast alternative tool for aneuploidy identification in pediatric leukemia.
四分之三的急性淋巴细胞白血病（ALL）患者存在染色体数目或结构改变，这些改变是白血病发生的重要因素。多重连接依赖探针扩增技术（MLPA）的应用主要局限于基因拷贝数改变的检测，这表明MLPA可检测癌症中的染色体数目改变。然而，此前的研究尚未考虑在儿科中使用MLPA分析亚端粒序列以检测非整倍体。本研究的目的是首次使用MLPA鉴定非整倍体，并将结果与前B-ALL患者的核型和DNA指数（DI）相关联。通过细胞遗传学和流式细胞术分析42份骨髓样本以确定DI。使用SALSA MLPA P036亚端粒混合探针1检测染色体的增减情况。MLPA与核型之间，42个样本中有36个染色体数目匹配（R = 0.7829，p = 3.7×10）；MLPA与DI之间，18/42匹配（R = 0.1556，p = 0.023）；核型与DI之间，20/42匹配（R = 0.1509，p = 0.015）。MLPA结果与核型和DI相关。MLPA的使用使我们鉴定出一条额外的标记染色体。我们的结果表明，MLPA可能是儿科白血病非整倍体鉴定的一种有用且快速的替代工具。
