Whole Exome Sequence of Pakistani Acute Lymphocytic Leukemia Patient from Pakhtuns Ancestry Reveal the Novel Genetic Variant Characterization in the GLDC Gene

Shahid Ullah, Alex Tonks, Maryam A Halawi, Alruwaili A M
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Abstract

Background: Acute Lymphoblastic Leukemia (ALL) is the most common malignant disease in children and often involves numerical chromosomal abnormalities, fusion genes, or minor localized deletions that are significant in the development of leukemia. Glycine Decarboxylase (GLDC) gene overexpression and mutation is associated with oncogenic activity in various cancers. However, the pathophysiological roles and structural consequences of GLDC in acute lymphocytic leukemia have not been investigated.
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巴基斯坦普什图族急性淋巴细胞白血病患者的全外显子组序列揭示了GLDC基因的新遗传变异特征
背景:急性淋巴细胞白血病(Acute Lymphoblastic Leukemia, ALL)是儿童中最常见的恶性疾病,通常涉及数字染色体异常、融合基因或轻微的局部缺失,这些在白血病的发展中具有重要意义。甘氨酸脱羧酶(GLDC)基因的过表达和突变与多种癌症的致癌活性有关。然而,GLDC在急性淋巴细胞白血病中的病理生理作用和结构后果尚未被研究。
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