Age-and gender-independent association of glutathione S-transferase null polymorphisms with chronic myeloid leukemia
BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES
Authors: Muddathir, Abdel Rahim Mahmoud; Abdallah, Elharam Ibrahim; Khabour, Omar Falah; Abdelgader, Ream Elzain; Elgari, Mahmoud Mohamed
Abstract
The glutathione S-transferase (GST) genes encode enzymes that mediate the detoxification of xenobiotics by catalyzing the conjugation of glutathione (GSH) to xenobiotic substrates. The aim of the current study is to investigate the association between GSTT1 and GSTM1 polymorphisms and chronic myeloid leukemia (CML) among Sudanese patients. Patients with CMI, (n = 115) were recruited to the study from the Radiation and Isotope Centre Khartoum (RICK) in Sudan. Healthy individuals (n = 104) were included as controls. Genotyping of GSTT1 and GSTM1 polymorphisms was performed using multiplex PCR. Null deletions in the GSTT1 and GSTM1 genes are common in the Sudanese population (control group), with frequencies of 33.9% and 38.2%, respectively. The frequencies of GSTT1 (OR: 3.25, 95% CI: Pt p < 0.001) and GSIM1 (OR: 2.14, 95% CI: 1.25-3.67, p < 0.005) null genotypes were significantly higher in CML patients vs. controls. The distribution of GSTT1 and GST null genotypes was not different between male and female (p > 0.01) and young and old CML patients (p > 0.05). Hematological parameters were not affected by the GST null polymorphisms in the patient group (p > 0.05). In addition, the frequency of GSTM1 null genotype was lower in advanced-phase CML patients compared to chronic-phase patients (p < 0.05). The GSTTI and GSTM1 null polymorphisms are associated with CML among Sudanese patients, independently of their age and gender.
GSTT1 null genotype in sickle cell anemia and blood transfusion recurrence - a case report
GENETICS AND MOLECULAR RESEARCH
Authors: Dias Neto, O. S.; e Silva, K. S. F.; Barbosa, A. M.; Rodrigues, D. A.; Lagares, M. H.; da Costa, I. R.; Moura, K. K. V. O.
Abstract
Sickle cell anemia is one of the most common genetic diseases in Brazil. This disease has an autosomal recessive inheritance pattern with a point mutation on chromosome 11, which is the substitution of an adenine by thymine. This mutation leads to the exchange of a glutamic acid for a valine at residue 6 of the beta globin chain, resulting in an abnormal form of hemoglobin, the so-called hemoglobin S (Hb S). The polymerization of Hb S produces reactive oxygen species, oxidizing agents that promote the oxidation of macromolecules, such as lipids, proteins and DNA. GSTs are enzymes that participate in the conjugation reactions of glutathione to a variety of electrolytic compounds that are potentially toxic and carcinogenic. The We analyzed the GSTT1 and GSTM1 gene polymorphisms in a patient with sickle cell anemia in order establish a more efficient clinical approach to treat the patient. The patient under study was 11 years old and sickle cell anemia was confirmed by the Guthrie test. Polymorphism identification was performed by PCR. The genotype identified in the patient was null for GSTT1 and present for GSTM1. In addition, the patient has a recurrent need for blood transfusion.