Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
KESMM Al, WAA Al-Nuaimy
KE Sharquie, MM Al-Waiz, AA Al-Nuaimy, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2006
EFFECT OF SPRAYING IRON AND ZINC CONCENTRATIONS IN GRAIN AND LEAF CONTENT FOR TWO VARIETIES OF WHEAT CROP
Background: The genetic polymorphisms of vitamin D receptor (VDR) have an association with thalassemia development, additionally to the environmental elements that elicited the disorder in the genetically predisposed individuals. As well, VDR functions responsible for the regulation of bone metabolism, such its part in immunity. Aim: The sitting study intended to inspect the association between thalassemia disease and the genetic polymorphisms of VDR among the Iraqi population then compared these findings to other findings of thalassemia patients in other different ethnic populations. Materials and methods: The restriction enzymes Bsm-I and Fok-I were applied to determine the genetic polymorphisms frequencies of VDR by a Polymerase Chain Re
... Show MoreIntroduction Periodontal diseases are ranked among the most common health problems affecting mankind. These conditions are initiated by bacterial biofilm, which is further modulated by several risk factors. Objectives To investigate the association of different risk factors with periodontal...
Susceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic association of this polymorphic system with risk of disease in Iraqi patients. Two outcomes of COVID-19, recovery and death, were also explored. ABO blood groups were determined in 300 hospitalized COVID-19 Iraqi patients (159 under therapy, 104 recovered, and 37 deceased) and 595 healthy blood donors. The detection kit for 2019 novel coronavirus (2019-nCoV) RNA (PCR-Fluorescence Probing) was used in the diagnosis of disease.