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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
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and AMH in Iraqi Patients with Chronic Kidney Disease
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This study was conducted to investigate thyroid function and Anti-Müllerian hormone (AMH) in (Chronic kidney disease) CKD patients by evaluating their levels in CKD patients, 50 patients were diagnosed to have CKD stage-5, their ages ranged between 20-50 years (25 males and 25 females) who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq, they were recruited from April 2018 to July 2018 and were enrolled into the study. The control group consisted of 20 healthy individuals, their ages ranged between 20-48 years (10 males and 10 females). The study showed non-significant (p>0.05) increase in AMH level in CKD patients compared to the control group. On the other hand, TSH was recorded a highly significant (

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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
Tue Feb 01 2022
Journal Name
Baghdad Science Journal
In Situ Hybridization for Molecular Detection of Human Papilloma Viral 6 / 11 DNA in Adenoctomized Tissues from A group of Iraqi Pediatric Patients
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Among more than 200 different human papilloma viral genotypes, the association of low oncogenic risk-HPV genotypes have been recognized with a variety of oral, oropharyngeal, nasopharyngeal benign tumors as well as non-neoplastic polyposis and papillomas and adenoid hypertrophy. This prospective case- control study aims to determine the rate of DNA detection of HPV genotype 6/11 in nasopharyngeal adeno- tonsillar tissues from a group of patients subjected to adenoctomy for adenoid hypertrophy . A total number of nasopharyngeal adeno-tonsillar tissue specimens from pediatric patients with adenoid hypertrophy were enrolled; 40 nasopharyngeal adeno-tonsillar tissues from patients with adenoid hypertrophy, and 20 normal nasal tissue specimen

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Publication Date
Fri Dec 30 2011
Journal Name
Al-kindy College Medical Journal
Sensorineural Deafness Among Patients with Chronic Renal Failure in Al-kindi Teaching Hospital
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Background: Patients with chronic kidney
disease have different grades of sensorineural
deafness .
Objective: To study the incidence of
sensorineural hearing loss and possible contributing
factors in patients with chronic kidney disease.
Methods: A total of 100 patients with chronic
kidney disease were studied. All of them were
males. 92 of them were on regular haemodialysis
programme. Only 8 patients were on conservative
management the age range of the study patients was
18-40 year patients were divided into three groups
according to age. All patients were assessed
clinically and were evaluated by audiometry , and
analysis was made on bone conduction threshold
.The mean follow up period was 2

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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
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
Fri Jan 01 2021
Journal Name
Bulgarian Journal Of Veterinary Medicine
First isolation and molecular phylogenetic analysis of Coxiella burnetii in lactating cows
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Q fever is an infectious disease of animals and humans, caused by globally distributed C. burnetii. In Iraq, there are no previous studies associated with the detection of the organism in cattle. An overall of 130 lactating cows were submitted to direct collection of milk samples. Initially, the samples of milk were tested using the molecular polymerase chain reaction (PCR) assay targeting three genes (16S rRNA, IS1111a transposase, and htpB). However, positive results (18.46%; 24/130) were detected only with the 16s rRNA gene. Concerning risk factors, the highest prevalence of C. burnetii was showed in the district of Badra (42.86%), whereas the lowest - in Al-Numaniyah and Al-Suwaira districts (P=0.025). There was no significant v

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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>G and -997G>A polymorphism of the HTR2C Gene and the Metabolic Syndrome in Iraqi Schizophrenic Patients
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