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Kurdish 人群中急性髓系白血病的 Nucleophosmin 1(NPM1)基因的分子研究。

Molecular study of Nucleophosmin 1(NPM1) gene in acute myeloid leukemia in Kurdish population.

机构信息

Salahuddin University, Education College. Biology Dep.

Hawler Medical University, College of Medicine. Nanakaly Teaching Hospital for Blood Diseases. Erbil- Iraq.

出版信息

Afr Health Sci. 2021 Jun;21(2):687-692. doi: 10.4314/ahs.v21i2.26.

Abstract

BACKGROUND

In patients with Acute Myeloid Leukemia (AML) the most frequent acquired molecular abnormalities and important prognostic indicators is nucleophosmin-1 (NPM1) mutations. Our study aims was molecular study of Nucleophosmin -1 gene in Acute Myeloid Leukemia in Kurdish population.

PATIENTS &METHODS: A total of 50 patients with AML, (36) of them attended Nanakaly Hospital and (14) attended Hiwa Hospital and 30 healthy subjects as control were selected randomly, all were matched of age and gender. Polymerase chain reaction (PCR) was used for detection of NPM1 gene mutation. Three samples of PCR product for NPM1 gene mutations were sequenced, and mutations were determined by comparison with the normal NPM1 sequence NCBI (GenBank accession number NM_002520).

RESULTS

Out of 50 patients with AML, 5 (10%) of them were NPM1 gene mutation positive, and 45 (90%) were negative. The mutation were a base substitution (C to A), (G to C), (G to T), transversion mutation in addition of frame shift mutation and all mutated cases were heterozygous and retained a wild type allele.

CONCLUSION

Identification of NPM1 mutations in AML are important for prognostication, treatment decision and optimization of patient care.

摘要

背景

在急性髓细胞白血病(AML)患者中,最常见的获得性分子异常和重要的预后指标是核磷蛋白-1(NPM1)突变。我们的研究旨在研究库尔德人群中急性髓细胞白血病的核磷蛋白-1基因。

患者与方法

共选择了 50 例 AML 患者(36 例来自 Nanakaly 医院,14 例来自 Hiwa 医院)和 30 名健康对照者作为随机对照,所有患者均在年龄和性别上匹配。采用聚合酶链反应(PCR)检测 NPM1 基因突变。对 NPM1 基因突变的 3 个 PCR 产物样本进行测序,并通过与正常 NPM1 序列 NCBI(GenBank 登录号 NM_002520)的比较来确定突变。

结果

在 50 例 AML 患者中,有 5 例(10%)为 NPM1 基因突变阳性,45 例(90%)为阴性。突变是碱基替换(C 突变为 A)、(G 突变为 C)、(G 突变为 T),转换突变外加移码突变,所有突变病例均为杂合子,保留野生型等位基因。

结论

AML 中 NPM1 突变的鉴定对预后、治疗决策和优化患者护理具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/23eb/8568245/30292c785d31/AFHS2102-0687Fig1.jpg

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