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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
HLA Typing in Iraqi Patients with Obesity and Primary Osteoarthritis.
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Background: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem

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Publication Date
Sun Jun 20 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and Leptin in Iraqi Patients with Chronic Kidney Disease
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The present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on  70 subjects, 50 patients with an age range between 20-50 years (25  males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10  males and 10 females), who attended  the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April  2018  to July  2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea

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Publication Date
Fri Feb 01 2019
Journal Name
Meta Gene
Cytokine gene variations and their impact on serum levels of IFN-γ, IL-2, IL-4, IL-10 and IL-12 among Iraqi Arabs
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Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
Staphylococcal infections among leukemic patients
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Staphylococcus are cause hospital community acquired infection and they are an important cause of health –care associated infection.The Coagulase positive Staphylococcus are Staphylococcus aureus which can implicated in toxic shock syndrome. Methicillin and Vancomycin Staphylococcus aureus resistant (MRSA, VRSA) become major cause of hospital- acquired infection and community acquired infection.Coagulase negative staphylococcus emerged as major cause of infection in immunocompromised patients.The main objective of this study was to evaluate the distribution of Staphylococci among leukemic patients since it is well known that leukemic patients are prone to be infected easily due to their immunosuppressed status.This study was undertaken b

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Publication Date
Tue Jan 01 2019
Journal Name
Biochemical And Cellular Archives
Phenotypic and molecular detection of Escherichia coli efflux pumps from UTI patients
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Publication Date
Thu Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Study of the Relationship between Some Microorganism Isolated from Congenital Anomalies Neonatal Screening and Their Mothers in Iraqi Patient
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Objectives : This study was seeks to determine the IgG and IgM in serum mothers and their babies of Iraqi patient suffering from congenital anomalies toward some microorganisms such as Cytomegalovirus (CMV), Congenital toxoplasmosis , Congenital rubella and Genital herpes simplex virus (HSV) correlated with age and babies gender the sample was collected from AL- Alwayia hospital for children / Baghdad . Methodology : Fifth blood sample have been collected from mothers and their babies suffering from congenital anomalies to detection IgG and IgM of some viruses including as Cytomegalovirus (CMV), congenital tox

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Publication Date
Wed Jun 01 2022
Journal Name
Jordan Journal Of Biological Sciences
Comparison of the Folate and Homocysteine Levels with A80G -RFC1 Gene Polymorphism between the Sample of Iraqi Children with and without Down Syndrome
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Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Serum Protein Profile Of Iraqi Hydatidosis Patients with Different Sites of Infection
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Blood samples of One hundred and twenty patients from different hospitals in Baghdad infected with hydatidosis in different sites of the body (Liver, Lung, multiorgans and kidney) were collected for this study. On the other hand, 30 healthy individuals were included as a control group. This study was conducted to evaluate the effect of this disease on the serum protein profile of the patients using electrophoresis. The results revealed four different protein banding patterns with difference in number of bands and their molecular weights in comparison to the control group, and these differences depended on the site of infection. However the data showed a presence of the same band in all patients with different site of infection.

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Publication Date
Tue Sep 01 2020
Journal Name
Meta Gene
Genetic polymorphisms frequency of vitamin D receptor gene rs7975232 and rs731236 in Iraqi thalassemic patients and healthy controls compared to Arabian healthy populations
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Publication Date
Fri May 05 2023
Journal Name
Journal Of Population Therapeutics And Clinical Pharmacology
The Association Between -697C&gt;G and -997G&gt;A polymorphism of the HTR2C Gene and the Metabolic Syndrome in Iraqi Schizophrenic Patients
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