RESUMEN
This research assessed the relationship among type 1 diabetes VDR gene polymorphisms (ApaI and TaqI) in the Kurdish population in Erbil-Iraq. Forty individuals with type 1 diabetes and thirty healthy people were recruited from the Kurdish population in Erbil, Iraq. Genomic DNA was taken from blood, being genotyped for SNP (single nucleotide polymorphisms). The distribution of VDR polymorphisms in two restriction fragment length polymorphism sites, TaqI and ApaI, was investigated in patients and controlled by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) utilizing ApaI and TaqI restriction enzymes. Using SPSS software (V15.0), the genotype dispersal and allelic incidences in patients and controls were compared. VDR polymorphism genotype dispersal and allele incidences vary dramatically among patients and controls. The results confirmed that the genotype GT in SNP ApaI was a risk factor among type 1 diabetes mellitus patients' combination that imparted the strongest susceptibility to T1DM (P=0.00023). Still, the SNP TaqI showed no relevance between cases and controls (P=0.35). Our findings indicate that VDR gene polymorphisms in the combination of genotypes are related to an increased risk of T1DM in the Kurdish community and warrant further investigation as a possible genetic risk marker for T1DM. More research is needed to corroborate this finding, particularly the VDR gene, which was studied for the first time in the Kurdish population.
Asunto(s)
Diabetes Mellitus Tipo 1 , Receptores de Calcitriol , Estudios de Casos y Controles , Diabetes Mellitus Tipo 1/genética , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Irak , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple/genética , Receptores de Calcitriol/genéticaRESUMEN
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.