MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN
Background: Chronic Myeloid Leukemia (CML) is a malignant genetic disorder commonly caused by the translocation of two genes among chromosomes 9 and 22. Nucleophosmin1 (NPM1) is a nuclear protein-coded gene located on chromosome 5q35. NPM1 protein, in association with other tumor suppressor protein...
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Superior University Lahore, Pakistan
2025-03-01
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| Series: | International Journal of Pharmacy & Integrated Health Sciences |
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| Online Access: | https://ijpihs.pk/index.php/IJPIHS/article/view/196 |
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| author | Sumaira Mehboob Kokab Durri Muhammad Farooq Sabar Hira Muzzamal Farkhanda Manzoor |
| author_facet | Sumaira Mehboob Kokab Durri Muhammad Farooq Sabar Hira Muzzamal Farkhanda Manzoor |
| author_sort | Sumaira Mehboob |
| collection | DOAJ |
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Background: Chronic Myeloid Leukemia (CML) is a malignant genetic disorder commonly caused by the translocation of two genes among chromosomes 9 and 22. Nucleophosmin1 (NPM1) is a nuclear protein-coded gene located on chromosome 5q35. NPM1 protein, in association with other tumor suppressor proteins, prevents cell proliferation in an uncontrolled way. Several mutations are located within exon 12 of the NPM1 gene. More than 95% of these mutations are frameshift due to the insertion of tetra‐nucleotides at positions 863 and 864 of exon 12. Three common mutation types (A, B, and D) represent about 90% of NPM1 mutations. Objectives: To analyze the NPM1 gene variants and their association with CML. Methodology: Genomic DNA was extracted from the whole blood of 50 cases and health control subjects. NPM1 (563 bp) was amplified using gene-specific primers by PCR and sequenced using BigDye® Terminator. The mutation was analyzed using Sanger sequencing in an ABI Gene Analyzer (3130XL). The results were analyzed and compared with the reference human NPM1 gene (accession # NG_016018.1). Results: The gene sequencing analysis revealed that NPM1 mutation (type A: Dup TCTG) was not present in DNA-sequenced samples of CML patients. Conclusion: It may be concluded that NPM1 mutations are unlikely to be linked to CML illness in a Pakistani community. Further research with a larger sample size may aid in determining the role of other gene mutations with CML for the effective treatment of this cancer.
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| format | Article |
| id | doaj-art-2fe812f9dade426a8e112d241d7a8e28 |
| institution | DOAJ |
| issn | 2958-1656 2789-2840 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Superior University Lahore, Pakistan |
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| series | International Journal of Pharmacy & Integrated Health Sciences |
| spelling | doaj-art-2fe812f9dade426a8e112d241d7a8e282025-08-20T03:15:24ZengSuperior University Lahore, PakistanInternational Journal of Pharmacy & Integrated Health Sciences2958-16562789-28402025-03-016110.56536/ijpihs.v6i1.196MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTANSumaira Mehboob0Kokab Durri1Muhammad Farooq Sabar2Hira Muzzamal3Farkhanda Manzoor4School of Biochemistry, Minhaj University, Lahore, Pakistan.School of Biochemistry, Minhaj University, Lahore, Pakistan.Centre for Applied Molecular Biology (CAMB), University of the Punjab Lahore, Pakistan. School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan.School of Medical Laboratory Technology (MLT), Minhaj University, Lahore, Pakistan.School of Zoology, Minhaj University, Lahore, Pakistan. Background: Chronic Myeloid Leukemia (CML) is a malignant genetic disorder commonly caused by the translocation of two genes among chromosomes 9 and 22. Nucleophosmin1 (NPM1) is a nuclear protein-coded gene located on chromosome 5q35. NPM1 protein, in association with other tumor suppressor proteins, prevents cell proliferation in an uncontrolled way. Several mutations are located within exon 12 of the NPM1 gene. More than 95% of these mutations are frameshift due to the insertion of tetra‐nucleotides at positions 863 and 864 of exon 12. Three common mutation types (A, B, and D) represent about 90% of NPM1 mutations. Objectives: To analyze the NPM1 gene variants and their association with CML. Methodology: Genomic DNA was extracted from the whole blood of 50 cases and health control subjects. NPM1 (563 bp) was amplified using gene-specific primers by PCR and sequenced using BigDye® Terminator. The mutation was analyzed using Sanger sequencing in an ABI Gene Analyzer (3130XL). The results were analyzed and compared with the reference human NPM1 gene (accession # NG_016018.1). Results: The gene sequencing analysis revealed that NPM1 mutation (type A: Dup TCTG) was not present in DNA-sequenced samples of CML patients. Conclusion: It may be concluded that NPM1 mutations are unlikely to be linked to CML illness in a Pakistani community. Further research with a larger sample size may aid in determining the role of other gene mutations with CML for the effective treatment of this cancer. https://ijpihs.pk/index.php/IJPIHS/article/view/196LeukemiaChronic myeloid leukemia (CML)Nucleophosmin-1 proteinNPM1 mutationsGene sequencing. |
| spellingShingle | Sumaira Mehboob Kokab Durri Muhammad Farooq Sabar Hira Muzzamal Farkhanda Manzoor MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN International Journal of Pharmacy & Integrated Health Sciences Leukemia Chronic myeloid leukemia (CML) Nucleophosmin-1 protein NPM1 mutations Gene sequencing. |
| title | MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN |
| title_full | MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN |
| title_fullStr | MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN |
| title_full_unstemmed | MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN |
| title_short | MUTATION ANALYSIS FOR NUCLEOPHOSMIN-1 (NPM1) GENE VARIANT OF CHRONIC MYELOID LEUKEMIA PATIENTS FROM LAHORE-PAKISTAN |
| title_sort | mutation analysis for nucleophosmin 1 npm1 gene variant of chronic myeloid leukemia patients from lahore pakistan |
| topic | Leukemia Chronic myeloid leukemia (CML) Nucleophosmin-1 protein NPM1 mutations Gene sequencing. |
| url | https://ijpihs.pk/index.php/IJPIHS/article/view/196 |
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