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Article
Polymorphisms of CYP1B1 Gene and the Risk of Endometrial Cancer in Iraqi Women

Author: Ismail Hussein Aziz
Journal: Journal of University of Babylon مجلة جامعة بابل ISSN: 19920652 23128135 Year: 2013 Volume: 21 Issue: 3 Pages: 1021-1027
Publisher: Babylon University جامعة بابل

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Abstract

This study was designed to study the polymorphisms of CYP1B1 genes and the risk of endometrial cancer in Iraqi women. A total of Fourty patients with endometrial cancer, aged between 15-72 year were contacted after surgery in Baghdad, and sixty apparently healthy women as control. The blood samples were collected in EDTA tube for extraction DNA and PCR experiments. The results showed that the frequency of CYP1B1 homozygous wild type Leu /Leu were 14% and 68% in patients and control respectively, while the homozygous mutant Val /Val were 32% and 28% respectively. The heterozygous mutant allele Leu /Val was 54% in endometrial cancer cases compared to 4% in control. The statistical analyses showed increased risk of endometrial cancer with homozygous mutant Val /Val genotype with an OR of 5.55 (95% CI 2.¬578- 11.951) and with heterozygous Leu/Val with an OR of 56.5 (59% CI = 20.407-210.687).When stratified the patients according to different stages, we found no association between the endometrial caner and stage IC, the risk increased to tow fold with stage IIB, while in stage IIIA and IVB the risk was highly increased to more than six fold with an OR (odd ratio) of 6.138 and 6.277 respectively .The risk of endometrial cancer increased to 2.5 fold in patient who had CYP1B1 mutant allele Leu/Val

صممت هذه الدراسة من اجل دراسة الأشكال المتعددة من جين CYP1B1 وعلاقته بمخاطر الاصابة بسرطان بطانة الرحم في النساء العراقيات حيث تم جمع عينات من نساء مصابات بسرطان بطانة الرحم وتتراوح أعمارهن بين 15- 72 عام وايضا تم جع عينات من 6 نساء سليمات كسيطرة. عينات الدم التي تم جمعها وضعت بانابيب حاوية على مادة مانعة للتخثر وحفضت لحين اجراء عملية استخلاص الدنا. بينت النتائج في هذه الدراسة ان تردد متشابه الزيجة البري بالنسبة لل CYP1B1 هو Leu /Leu وبنسبة 14 بالمائة في النساء المرضى و 68 بالمائة في النساء السليمات. في حين متشابه الزيجة الطافر Val /Val اظهر النسب 32 بالمائة و 28 بالمائة على التوالي. ايضا اظهر متباين الزيجة ذو الاليل الطافر Leu /Val نسبة 54 بالمائه في حالات مرضى سرطان بطانة الرحم مقارنة بنسبة 4 بالمائه في الاصحاء بين التحليل الاحصائي زيادة احتمالية الاصابة بسرطان بطانة الرحم ف المرضى الحاملين للنوع الطافر ومتشابه الزيجة Val /Val وبمعامل انحدار قدره 5.55 (95% CI 2.¬578- 11.951) وللنوع متباين الزيجة Leu/Val وبمعامل انحدار قدره 56.5 (59% CI = 20.407-210.687).عند تصنيف المرضى حسب المرحلة التي وصل اليها المرض فاننا لا نجد اي علاقة بين سرطان بطانة الرحم والمرحلة IC وان مخاطر الاصابة تزداد بمعدل مرتين في المرحلة IIB في حين في المرحلة IIIA والمرحلة IVB فان خطرة الاصابة قد ارتفعت لاكثر من ست اضعاف وبنسبة 1.38 و 6.277 ان نسبة الخطورة للاصابة بسرطان بطانة الرحم قد ازدادت بنسبة مرتين ونصف في المرضى الحاملن للاليل الطافر Leu/Val لجين CYP1B1


Article
Influence of multi-drug transporter gene ABCG2 polymorphism (C421A) in clinical out care in some Iraqi chronic myeloid leukemia patients treated with imatinib mesylate

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Abstract

In CML patients, Imatinib Mesylate (IM) treatment is a good choice with an excellent efficacy outcome. But unfortunately, a significant obstacle of IM resistance has emerged relating to the genetic polymorphism in drug transporter genes such as ABCG2 which effects the metabolism and pharmacokinetic IM. This study investigate the influence of ABCG2 C421A SNP in IM response among some Iraqi CML Patients (71 patients : 43 Male , 28 Female) aged between ( 20-70 ) years in chronic phase with positive Philadelphia (Ph) chromosome, including 11 newly diagnosed , and 60 treated with standard dose IM (400mg) on frontline treatment , 30 of them were IM response and 30 resistance to IM drug , on the other hand 25 apparently healthy individuals were included as control group. After the patients were informed about the details of the research, they were approved to take samples of their blood for study , 3ml of peripheral blood was withdrawn from CML patients and control groups . The frequency of homozygous mutant genotype (AA) of SNPabcg2 C421Awas significant higher in IM resistant CML patients as compared to IM good response CML patients with (O.R=1.309 and p < 0.01) . The SNP abcg2 C421A was found to contribute to the genetic susceptibility of CML when evaluated with healthy control subjects. These reconnoitering results give a reasonable cause to explore such SNPs to be used as a biomarker in prediction the response to IM treatment before getting started.


Article
Association between Ankylosing Spondylitis and the miR-146a Polymorphisms a Samples of Iraqi Patients

Author: Zahraa H. Al-Qiam1 , Ali H. Al-Saadi2 , Ali A. Al-Kazaz3 , Mona Al-Terehi2
Journal: Iraqi Journal of Biotechnology المجلة العراقية للتقانات الحياتية ISSN: 18154794 Year: 2019 Volume: 18 Issue: 2 Pages: 242-251
Publisher: Baghdad University جامعة بغداد

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Abstract

MicroRNAs (miRNAs) are small noncoding sequence that regulate the expression of multiple target genes at the post-transcriptional level, efficiently regulating fundamental cellular processes such as proliferation, apoptosis, and development. Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic illness of mysterious etiology with a strong genetic susceptibility. Important development is being made in our considerate of the pathogenetic tools involved in this illness, and the recent genome-wide association study (GWAS) consequences have related at least 60 loci to As, The present study explored the association between ankylosing spondylitis (AS) and two single nucleotide polymorphisms (SNPs), miR-146a rs2910164G>C, in Iraq population. The genetic analysis of the Single Nucleotide Polymorphisms, for miR-146a gene by using PCR-SSCP technique that there was significant difference in genotype polymorphisms between patients and control . Also this research found relationship between miR-146a and Osteoprotegerin ,interleukin 23serum level in AS patients .

Keywords

miRNA-146 --- polymorphisms --- PCR-SSCP --- AS .


Article
Contribution of IL-10 (SNP -819 C/T and SNP-1082 G/A) polymorphisms variants to the risk of type 1 diabetes in Egyptian population
مساهمه التباين الجيني لجين الانترلوكين- 10 و(SNP -819 C/T SNP-1082 G/A) على مخاطر الاصابه بمرض السكري من النوع الاول في المجتمع المصري

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Abstract

This study investigated whether interleukin- 10 (IL-10) gene promoter region polymorphisms are associated with susceptibility or clinical presentation of type 1 diabetes. The frequency of -1082G/A and -819C/T, polymorphisms was analyzed in 60 Egyptian patients with type 1 diabetes and in 60 healthy control subjects in a case-controlled study. However, the -819C/T not showed significance between patient and control (P=0.208) and 1082G/A were associated with T1DM disease (P<0.0001). These results suggest that the IL-10 gene promoter polymorphisms are associated with type 1 diabetes in Egyptian population.

تم اختيار عينة مكونة من 120 شخصا" ومقسمة إلى مجموعتين (60 من المرضى المصابين بمرض السكري من النوع الاول و 60 من الأشخاص الأصحاء كمجموعة ضابطة) تم التحري عن التباين الجيني في جين الانترلوكين (10) في المواقع التالية 1082G/A and -819C/T وارتباطه بمرض السكري من النوع الاول وأظهرت النتائج بانه لايوجد هنالك ارتباط بين الموقع متعدد الاشكال 819C/T ومرض السكري من النوع الاول (P=0.208) حسب الدلالات الاحصائية بين مجموعة المرضى والمجموعة الضابطه بينما اظهرت النتائج انه يوجد ارتباط وثيق بين الموقع متعدد الاشكال 1082G/A ومرض السكري من النوع الاول بين مجموعة المرضى والمجموعه الضابطه حسب الدلالات الاحصائية (P<0.0001), وهذه النتائج تشير الى وجود ارتباط وثيق بين الموقع متعدد الاشكال G/A 1082لجين انترلوكين (10) ومرض السكري من النوع الاول في المجتمع المصري.


Article
Association of Genetic Polymorphisms in a Sample of Iraqi Patients with Type2 Diabetes Mellitus

Author: Ruaa H. Abdul Ridha, Nuha J. Kandala
Journal: Iraqi Journal of Biotechnology المجلة العراقية للتقانات الحياتية ISSN: 18154794 Year: 2016 Volume: 15 Issue: 3 Pages: 78-84
Publisher: Baghdad University جامعة بغداد

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Abstract

Type 2 Diabetes (T2D) is a progressive condition that is characterized by high blood sugar (hyperglycemia)‚ with T2D the body either resist the effect of insulin or does not produce enough insulin. In order to underline the role of the genes involved in this study‚ we investigate ‚using PCR-RFLP for CTLA-4 gene ‚ PCR-RFLP and sequencing for VDR gene. Polymorphisms of two single nucleotide polymorphisms (SNPs) belonging to both genes in 60 T2D patients and 30 healthy control from Iraqi population. The present local study demonstrated that VDR FoK-I‚ FF genotype (P = 0.04) and F‚f alleles (P=0.07) frequencies were significantly associated while VDR Bsm-I was significantly non-associated. CTLA-4 -1722(T>C) and +49 (A>G) shows non-significant association. These result suggest the involvement of VDR gene in the genetic susceptibility to T2D. Interestingly FoK-I‚ contributes to increasing the risk to the disease in our population. However‚ Further studies are require to confirmed this finding.


Article
Prevalence and Molecular Characterization of Fim H Gene in Escherichia Coli Isolates Recovered From Patients With Utis

Author: Narmin Saeed Merza
Journal: Medical Journal of Babylon مجلة بابل الطبية ISSN: 1812156X 23126760 Year: 2017 Volume: 14 Issue: 3 Pages: 470 -477
Publisher: Babylon University جامعة بابل

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Abstract

In this study, the prevalence of fim H gene was studied among 105 E. coli isolates obtained from urine samples of patients attended Azadi hospital in Duhok City. The intended gene was detected in94.3% of the isolates. Triplex PCR assay was applied and according to which the studied isolates were assigned into four groups namely A, B1, B2, and D groups which constituted 20.95 %, 3.8 %, 54.28 %, 20.95 %, respectively. Ten randomly selected isolates were subjected to SNPs fimH analysis with 3 reference strains of E. coli. The results revealed that 44 SNPs observed at 42 polymorphic sites accounting for 5.59%. All mutations were of substitutions and 29.5 % of mutations were transversions while transition type mutations constituted of 70.5 %. Ten SNPs accounting for 22.7 % of mutations gave rise to amino-acid changes (sense mutation) while the rest 34 (77.3 %) resulted in silent mutations. Moreover, twelve SNPs were singletons and among them five were with amino acid replacements. Amino acid replacements due to SNPs accounted for 1.27% of whole sequenced fragment of fimH.It can be concluded that there is no relationship inferred between the isolates of E.coli when the two phylotyping techniques are compared but the results of both can serve the purpose of genotypic characterization of uropathogenic E. coli.


Article
Detection of SCN1A Gene Polymorphisms in Epilepsy Children

Author: Laith Abdul Hassan Mohamed-Jawad1
Journal: Almuthanna Journal of Pure Science (MJPS) مجلة المثنى للعلوم الصرفة ISSN: 22263284 Year: 2017 Volume: 4 Issue: 2
Publisher: Al-Muthanna University جامعة المثنى

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Abstract

Febrile seizure is a common convulsions occur in children from 5 months to 6 years of age whose sufferingfrom high temperature. A total of 50 children with febrile seizures and 50 normal control are included in this study.RFLP used to identify the A/G polymorphisms of the SCN1A gene on chromosome 2q24. Results showed that thegenotype proportions and allele frequencies for SCN1A c.3184 A/G in both groups are not significantly. Proportions ofA homozygote, A/G heterozygote, and G homozygote for SCN1A c.3184 A/G were as follows: in patients with FSs,20%, 50%, and 30%, respectively compared to controls (24%, 62%, and 14%, respectively). The allele A and Gfrequencies for SCN1A c.3184 A/G in patients with FSs was 45% and 55% respectively compared to control group. Thefrequency of AG genotype of SCN1A c.3184 A/G polymorphism was non-significant in FSs compared to control group.There was increased in glucose, phosphorus levels and decrease in sodium, chloride levels. The results do not suggestthat SCN1A p. Thr 1067 Ala or c.3184A/G (rs2298771) are susceptibility factors for febrile seizures and the fever playsan important role in causing disturbances in electrolyte balance.


Article
Effect of NRAMP1 Gene polymorphism on levels of (TNF-α and IL-1β) cytokines in cutaneous Leishmaniasis patients in Iraq

Author: Ghada B. Alomashi
Journal: Muthanna Medical Journal مجلة المثنى الطبية ISSN: 2226146x Year: 2018 Volume: 5 Issue: 1 Pages: 56-65
Publisher: Al-Muthanna University جامعة المثنى

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Abstract

Cutaneous leishmaniasis (CL) is vector-borne disease, and endemic in most regions of Iraq especially with poor populations. Natural resistance-associated macrophage protein 1 (NRAMP1) gene play an essential role in susceptibility to CL and disease pathology, NRAMP1 influences a production and activation of pro-inflammatory cytokines (TNF-α and IL-1β). Pro- and anti-inflammatory cytokines play an essential role in susceptibility/ resistance and the immunopathogenesis of Leishmania infection, these cytokines are crucial factors in the initiation and enhances of protective immunity against Leishmania infection, this study aimed to studying effect of polymorphism in NRAMP1 genes on cytokines secretion, and their effect in susceptibility to CL infection. Samples of blood were collected from (60) patients with CL and (32) apparently healthy controls. Polymorphism of NRAMP1 (D543N) detected in patients and control groups by PCR-RFLP technique. While (TNF-α and IL-1β) cytokine concentration detected by ELIS technique using a quantitative sandwich enzyme immunoassay technique, Results indicate to effect of NRAMP1 Gene Polymorphism on levels of (TNF-α and IL-1β) cytokines and this a clearly recorded in present study were A allele is associated with lower levels of (TNF-α and IL-1β) in patients and control groups compression to that absorbed in allele G with statically significant (P ≤ 0.05).


Article
A Study of P 53 codon (72) polymorphism distribution and related risk factors in Kerbala population by PCR
دراسة تعدد اشكال الكودون 72 في جين P53 في سكان كربلاء المقدسة وارتباطه بمجموعة من العوامل بواسطة تفاعلات الكوثره

Author: Hassan Mahmood Mousa Abo Almaali حسن محمود موسى
Journal: Albahir journal مجلة الباهر ISSN: 23125721 Year: 2017 Volume: 5 Issue: 9+10 Pages: 81-90
Publisher: AL-Abbas Holy Shrine العتبة العباسية المقدسة

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Abstract

Tumor protein (53) P53 is a member of family of proteins responsible for manyprocesses such as preventing cancer by controlling cell cycle, programmed cell death(apoptosis), stress response, DNA repair and gene expression. It’s found that p53 havemany codons that may be subjected to mutation by many factors and these mutationmay lead to cancers in many systems of human body.One of most important sites ofmutation responsible for cancer development is codon (72) because it located on exon(4).Codon (72) has three polymorphisms which are R/R, R/P and P/P according to argininesubstitution with proline in the proline’s rich area.The present study aimsto studythe distribution of codon (72)polymorphisms in Kerbala population and impact of manyrisk factors such as smoking, diseases with genetic extension such as diabetes mellitusand hypertension in addition to another factor such as age, residency, academic achievementand gender on polymorphism of codon (72) of p53.Our study showed there is onlytwo types of codon (72) polymorphisms has been found in our cases, which are R/Rand R/P, P/P alleles not found in studied population. The results also revealed that nostrong association between one type on codon (72) polymorphisms and the studied riskfactors, such as smoking, diseases with genetic causation (such as diabetes mellitusand hypertension) and other factor such as age, residency, academic achievement thatwe are study. The correlation coefficients (r) were as the following; the smoking status/polymorphism (r=0.07141);education /polymorphism (r=0.10955); age /polymorphismcorrelation (r=-0.0636); and gender /polymorphism (r=0.1).

ان بروتين الورم ( 53 ) هو عضو في عائله من البروتينات المسؤولة عن مجموعه من الفعاليات الحيوية مثل منع السرطانوالتعبير الجيني. من اجل DNA والسيطرة على دوره الخلية و الموت المبرمج للخلايا والاستجابة الى للإجهاد واصلاح جزيئةحضي بدراسة مستفيضه من خلال العديد من الباحثين حول العالم. اظهرت تلك الدراسات P هذه الاهمية فأن بروتين الورم 53التي يمكن ان تكون عرضه للطفرة الوراثية التي يمكن codons بأن بروتينالورم ( 53 ) يمتلك العديد من الشفرات الوراثيةان تقود لظهور العديد الاورام في اجهزه جسم الانسان.ان احد اهم الاماكن المعرضة للطفرة المسؤولة عن ظهور السرطان هووهو مكان مرتبط بشكل كبير بالطفرات المؤدية لظهور الاورام. ان P الكودون ( 72 )لأنه يقع على المحور ( 4) من بروتين الورم 53الكودون ( 72 ) يمتلك ثلاثة اليلات مختلفة وهي ارجنين/ ارجنين و ارجنين/ برولين و برولين/برولين وهذه الاشكال الثلاثةناتجه عن استبدال الارجنين بالبرولين في المنطقة الغنية بالبرولين من بروتين الورم ( 53 ).في هذه الدراسة نحاول استقصاء توزيعالاشكال الثلاثة للكودون ( 72 ) بين المدخنين من سكان مدينه كربلاء المقدسة ومحاوله معرفه تأثير العديد من العوامل والامراضمثل العمر ومكان الاقامة والتحصيل ￯ التي تملك بعض الاسس الجينية (مثل مرض السكر وارتفاع ضغط الدم) وعوامل اخرالدراسي والجنس على انتشار تلك الاشكال. اظهرت نتائج هذا البحث ان هنالك اليلين فقط من اليلات كودون ( 72 ) الثلاثهوهما ارجنين /ارجنين وارجنين/برولين في الحالات التي درسناها. كما اظهرت نتائج البحث ايضا عدم وجود علاقة وثيقه بين ايبين اليلات كودون ( 72 ) وبعض (R) شكل من اشكال الكودون ( 72 ) و العوامل التي درسناها. وكانت قيمة معامل الارتباطالعوامل المدروسة وهي كالاتي قيمه معامل الارتباط بين التدخين وتعدد الاشكال تساوي ( 0.07141 )، وقيمه معامل الارتباطبين معدل التدخين وتعدد الاشكال تساوي ( 0.0549 -)، وقيمه معامل الارتباط التحصيل الدراسي وتعدد الاشكال تساوي0.10955 )، وقيمه معامل الارتباط بين العمر وتعدد الاشكال تساوي- ( 0.0636 )، وقيمه معامل الارتباط بين الجنس وتعدد ).( الاشكال تساوي


Article
Genetic Polymorphisms SNP (rs5925) of LDLR Gene Associated with Familial Hypercholesterolemia in Iraqi Patients

Author: Alaa Riehan1 , Wiaam Ahmed Al-Amili 2
Journal: Iraqi Journal of Biotechnology المجلة العراقية للتقانات الحياتية ISSN: 18154794 Year: 2018 Volume: 17 Issue: 2 Pages: 75-81
Publisher: Baghdad University جامعة بغداد

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Abstract

The low density lipoprotein receptor (LDLR) allele status is the predominant hypercholesterolemia genetic risk factor. Functional single nucleotide polymorphisms (SNPs) in human LDLR gene receptors represent an excellent nominee for association with hypercholesterolemia. So, a common SNP ( c.1959T>C ; p.Val653Val , exon 13 , rs5925) in LDLR gene was studied using Real-Time PCR and restriction fragment length polymorphism (PCR-RFLP) techniques to show association between LDLR SNP with Familial hypercholesterolemia . Seventy of Familial hypercholesterolemia patients who were clinically diagnosed by physician and 30 apparently healthy individuals were conducted within this study. Blood samples were collected from all subjects after 12-14 hour fasting. Genomic DNA was extracted from blood samples and analyzed for rs5925 SNP in LDLR gene with specific primers and probes using Real-Time PCR technique. Also, genomic DNA was amplified by conventional PCR with specific primers for detection of this SNP using PCR-RFLP technique. Using two methods in identification of rs5925 SNP for LDLR gene in this study come in different performance success percentage of the methods. Where, the Real-Time PCR gave 100% performance success for all subjects, while PCR-RFLP gene gave only 64% performance success for FH patients and 70% for control group. On the other hand, when the two methods were success to be done they gave fairly close results. In Real-Time PCR and PCR-RFLP, FH patients appeared CC homozygous genotype and TC heterozygous genotype significantly higher than in control group while the control group showed significantly increasing in TT homozygous when compared with FH patients. In comparison of the allele frequencies of C and T of LDLR gene, FH patients showed that the variable allele C was higher than T allele within this group. This association may be observed between allele polymorphism and risk of FH.

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