泰国儿童急性淋巴细胞白血病患者6-巯基嘌呤诱导骨髓抑制的药物代谢酶基因多态性

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-09-08 DOI:10.1055/s-0040-1715818

Kanyarat Khaeso, Nontaya Nakkam, Patcharee Komwilaisak, Piyathida Wongmast, Su-On Chainansamit, Areerat Dornsena, Sirimas Kanjanawart, Suda Vannaprasaht, Wichittra Tassaneeyakul

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引用次数: 1

摘要

巯基嘌呤s -甲基转移酶(TPMT)和核苷二磷酸连接片段x型基序15 (NUDT15)基因的遗传多态性被认为是6-巯基嘌呤(6-MP)诱导的小儿急性淋巴细胞白血病(ALL)骨髓抑制的关键决定因素。本研究通过TaqMan SNP基因分型和DNA测序对178例泰国ALL患儿的TPMT和NUDT15基因型进行了研究。TPMT*3C的频率为0.034。在NUDT15变异中，以NUDT15*3最为常见，等位基因频率为0.073，而NUDT15*2、NUDT15*5和NUDT15*6的等位基因频率分别为0.022、0.011和0.039。这些数据表明，很大比例的泰国儿科ALL患者可能存在硫嘌呤诱导的骨髓抑制风险。

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Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients.

Genetic polymorphisms of thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 ( NUDT15 ) genes have been proposed as key determinants of 6-mercaptopurine (6-MP)-induced myelosuppression in pediatric acute lymphoblastic leukemia (ALL). In the present study, genotypes of TPMT and NUDT15 were investigated in 178 Thai pediatric patients with ALL by the TaqMan SNP genotyping assay and DNA sequencing. The frequency of TPMT*3C was 0.034. Among NUDT15 variants, NUDT15*3 is the most common variant with the allele frequency of 0.073, whereas those of NUDT15*2 , NUDT15*5 , and NUDT15*6 variants were 0.022, 0.011, and 0.039. These data suggest that a high proportion of Thai pediatric ALL patients may be at risk of thiopurine-induced myelosuppression.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.