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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 Jan 24 2023
Journal Name
Archives Of Razi Institute
PCR-RFLP Analysis of Insulin-Like Growth Factor 2 Gene Polymorphisms in Two Commercial Broiler Chicken Strains (Cobb 500 and Hubbard F-15) and Their Associations with Performance Traits
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The present research aimed to study the polymorphisms of the chicken insulin-like growth factor 2 (IGF2) in two commercial broiler breeds (Cobb 500 and Hubbard F-15). In total, 300 avian blood samples were obtained. The genomic DNA was isolated using a fast salt-extraction technique. Moreover, polymerase chain reaction (PCR) was used to amplify 1146 bp fragments of the gene. The amplified fragments were subjected to restriction enzyme digestion using the HinfI endonuclease enzyme, and the digested products were separated on a 2% agarose gel. The findings indicated that there were two alleles, T and C, for the target locus, with frequencies of 73.3% and 26.7%, respectively. Three distinct genotype variations, TT, TC, and CC, were found, with

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
The major psychocutaneous disorders in Iraqi patients
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KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 8

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Serum Zinc in Iraqi Acute Leukemic Patients
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Background: Leukemia is a group of malignant disorders
associated with increased numbers of blood white blood
cells. Acute leukemia occurs at all ages. Because zinc
influences many body systems and functions, zinc is an
essential nutrient for tissue growth, cellular division,
protein synthesis DNA and RNA replication it also ought to
play a critical role in the growth of tumor. In this study,
serum zinc was estimated in leukemic patients and
compared with healthy subjects.
Methods: The subjects in the present study were; fourtyfour depressed patients aged (14-48 year), thirty-one
apparently healthy subjects were selected as control group.
Their sex and age were comparable to that of patients.
Determin

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Publication Date
Sun Jun 01 2025
Journal Name
Microbial Biosystems
Distribution and association of an usp genotoxin gene with biofilm formation in E. coli
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Uropathogenic specific protein is a genotoxic protein targeting the DNA, leading to mutations and modifications in the normal cell's DNA and subsequently, cancer development. This study aims to determine the prevalence of the usp gene in Uropathogenic Escherichia coli isolated from females with urinary tract infections and study its correlation with biofilm formation. One hundred and five urine specimens were collected from female patients (20 to 55 years old) with urinary tract infections attending hospitals. Traditional laboratory methods using selective and differential culture media were used for initial bacterial isolation and identification, and molecular techniques that targeted a segment of the 16SrRNA gene with a specific primer pa

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Publication Date
Mon Mar 03 2025
Journal Name
Journal Of Research In Pharmacy
Association of paraoxonase-1 108 C >T gene polymorphism with polycystic ovarian syndrome
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Polycystic ovarian syndrome (PCOS) is increasingly recognized as a significant health concern among women of reproductive age, exerting its influence on the reproductive system and overall female physiology. Paraoxonase-1 (PON1) gene polymorphism, -108 C >T in the promoter region, have been identified as factors that influence both the stability of the enzyme and its active site. This, in turn, contributes to increase oxidative stress, a recognized risk factor associated with PCOS. This study aimed to investigate the connection between paraoxonase-1-108 C >T gen polymorphisms with PCOS in Iraqi women in a case-control study included 40 women with PCOS and 40 women with normal cycles and no symptoms of

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Publication Date
Tue Jun 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Association between Serum Leptin Level and Insulin Resistance in Acromegalic Iraqi Patients with Type 2 Diabetes Mellitus
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Publication Date
Sat Dec 04 2021
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Association between Lipid Profile and Glycemic Status in Iraqi patients with Acromegaly Receiving Depot Long-Acting Octreotide
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Background: Treatment modalities of acromegaly and disease control impact differently on glucose homeostasis and lipid changes, and consequently on cardiometabolic risk. Aim: To investigate the possible association of lipid profile changes with the glycemic control status in acromegaly patients treated with octreotide LAR. Methods: This cross-sectional study included 52 Iraqi patients with acromegaly treated with octreotide LAR and not using statins. Demographic, anthropometric, and clinical data were collected, as well as the duration of Octreotide LAR administration. The glycemic state was assessed and classified as DM, prediabetes, or normal. Plasma levels of triglycerides, LDL cholesterol, HDL cholesterol, and non-HDL were evalu

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Trace Elements (Zinc, Copper and Magnesium) Status in Iraqi Patients with Acne Vulgaris :( Case- Controlled Study)
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Recently on the dermatological fields, the serum levels and the roles of Zn, Cu and Mg have been studied especially in acne vulgaris, but the results were controversial. The aim of the present study is to investigate  a relationship between the severity of acne and the serum levels of zinc (Zn), copper (Cu) and magnesium (Mg) and to demonstrate the status of serum levels of zinc, copper, and magnesium in Iraqi male patients with acne vulgaris and to compare it with those of healthy controls.This case controlled study was conducted in the Department of Dermatology and Venerology and in the Poisoning Consultation Center of Baghdad Teaching Hospital between May 2009 to January 2010. Forty- five male patients with acne vulgaris, their a

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Publication Date
Wed Apr 30 2014
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Relationship Between Interleukin -33( IL-33) and C- Reactive Protein in Iraqi Women Patients with Celiac Disease
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
CYP2D6 Genotype in Relation to Liver Toxicity Due to Tetrabenazine in Iraqi Patients with Hyperkinetic Movement Disorders
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Abstract

The  common types of movement disorders are ; dystonia which is a syndrome  of  repetitive muscle contractions. While , Huntington disease is autosomal dominant progressive neurodegenerative disorder, which is characterized by involuntary movements (“chorea”).

Tetrabenazine therapy has been shown to effectively control this movements compared with placebo.

Design the proper dosing approach for patients treated with tetrabenazine with genotype polymorphisms and their hepatic effect on patients.

A prospective case controlled study was carried on 50 patients whom    divided into 2 groups :first group involved 25 patients who had cho

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