رند محمد عبد الحسين الحسيني

Investigate the presence of a SNP in the methylenetetrahydrofolatereductase gene in PCOS patients with Dyslipidemia in Al-Najaf Al-Ashraf province

Frequency evaluation of β-thalassemia mutation (Codon 8/9) in Iraqi patients

Evaluation of PIK3CA Status in Breast Cancer and their Correlation with ER, PR, and HER-2 expressions in Iraqi female patients

Mutation analyses of bilirubin UGT1A1gene in Neonatal that Associated With Hyperbilirubinemia in Al-Najaf province

Abstract Background Colorectal cancer ranks second as a cause of cancer deaths. Mutations in the adenomatous polyposis coli (APC) gene, especially in exon 16, could contribute to colorectal carcinoma development. This study explored the correlations between APC gene exon 16 variations/expression and colorectal carcinoma progression. Methods In a case-control study, blood samples from 150 colorectal carcinoma patients and 50 healthy volunteers were analyzed by PCR and sequencing for APC exon 16 variations. The APC protein expression on tissue samples was evaluated by immunohistochemistry and statistical analyses were used to examine clinicopathological correlations. Results The sequencing analysis revealed a mutation in exon 16 of the APC gene (rs459552) in 36 % of colorectal cancer cases while absent in all non-cancer controls. Subgroup analysis by tumor grade showed higher prevalence of mutant allele in Grade II and Grade III cases, with frequencies reaching 60.0 % and 69.2 %, respectively, compared to a substantially lower prevalence of 29.4 % in Grade I patients. Immunohistochemistry showed no significant correlation between this mutation and APC expression. APC positivity proportions were 25.5 % in Grade I tumors (n = 26/102) versus 17.1 % in Grade II (n = 6/35) and 46.2 % in Grade III (n = 6/13), showing a non-significant trend of reduced positivity in higher grade tumors (p>0.05). Conclusions The frequency of APC exon 16 mutation (rs459552) rose significantly with increasing tumor grade. Similarly, although not statistically significant, the percentage of APC positive staining increased with poorer tumor differentiation, rather than declining. Therefore, the APC exon 16 mutation and expression analysis provides insights into colorectal cancer progression, with the rs459552 mutation correlating with grade and may promoting aggression.

Abstract Acute myeloid leukemia is the most common hematological malignancy in adults. The uncontrolled proliferation of non-differentiating myeloid progenitors is a hallmark of this illness. Mutant cells form when DNA damage cannot be repaired by the cell's repair mechanisms. One of the DNA repair mechanisms, the base excision repair pathway. The study involved 70 patients with acute myeloid leukemia (37 females and 33 males) as well as 30 apparently healthy individuals as a control group. The gSYNCTM DNA Extraction Kit from Geneaid/Taiwan was used to extract DNA from entire blood samples from the study groups. The Restriction Fragment Length Polymorphism-PCR method was used to identify the APE1 gene's (rs1130409; Aspl48Glu, T/G in Exon 5) polymorphism. In genetic analysis, it was shown that an increase in the T/ T genotype and the T allele in the APE1 codon 148 polymorphisms play a protective role in AML, and that an increase in the G/G genotype and G allele could be associated with acute myeloid leukemia risk. The polymorphism of APE1 gene at rs1130409 revealed TG genotype and G allele as the most frequent and higher significant (P<0.05) in AML patients compared to the control group. The sequence of the studied region showed that the restriction site of the restriction enzyme is indicated by a site of diversity that is present in the GATC sequencing and transitions to the GAGC sequencing when a nucleotide change (T to G) actually occurs. Our findings suggest that the APE1 rs1130409 polymorphism may be associated with acute myeloid leukemia susceptibility in Iraqi patients. It was discovered that the polymorphic marker 148 Glu> Asp of the APE1 gene was associated with the development of AML. Allele T and genotype T/T carriers have a lower risk of developing AML, whereas allele carriers G have an increased risk.

Background Colorectal cancer ranks second as a cause of cancer deaths. Mutations in the adenomatous polyposis coli (APC) gene, especially in exon 16, could contribute to colorectal carcinoma development. This study explored the correlations between APC gene exon 16 variations/expression and colorectal carcinoma progression. Methods In a case-control study, blood samples from 150 colorectal carcinoma patients and 50 healthy volunteers were analyzed by PCR and sequencing for APC exon 16 variations. The APC protein expression on tissue samples was evaluated by immunohistochemistry and statistical analyses were used to examine clinicopathological correlations. Results The sequencing analysis revealed a mutation in exon 16 of the APC gene (rs459552) in 36 % of colorectal cancer cases while absent in all non-cancer controls. Subgroup analysis by tumor grade showed higher prevalence of mutant allele in Grade II and Grade III cases, with frequencies reaching 60.0 % and 69.2 %, respectively, compared to a substantially lower prevalence of 29.4 % in Grade I patients. Immunohistochemistry showed no significant correlation between this mutation and APC expression. APC positivity proportions were 25.5 % in Grade I tumors (n = 26/102) versus 17.1 % in Grade II (n = 6/35) and 46.2 % in Grade III (n = 6/13), showing a non-significant trend of reduced positivity in higher grade tumors (p>0.05). Conclusions The frequency of APC exon 16 mutation (rs459552) rose significantly with increasing tumor grade. Similarly, although not statistically significant, the percentage of APC positive staining increased with poorer tumor differentiation, rather than declining. Therefore, the APC exon 16 mutation and expression analysis provides insights into colorectal cancer progression, with the rs459552 mutation correlating with grade and may promoting aggression.

Colorectal cancer is one of most common cancers that cause death, it consider third cause for death. Among the gastrointestinal tract cancers, it is more common in Europe and United States of America than Affrica and Asia. The aim of current study to investigate the association between any molecular aberration in Tp53 gene, exon 5 and mutant p53 protein expression in colorectal carcinoma development. Methods. The current study had two lines: molecular studies in the biology department of the Faculty of Sciences / University of Kufa, and immunohistochemical studies in the histopathology department of the Faculty of Medicine / University of Kufa. The current study was conducted between December 2019 and March 2021. The Scientific Ethical Committee's consents were obtained from all participants' prior to the collection of samples.

Colorectal carcinoma one of most incidence and dangerous cancer around the world. The aim of current study to investigate the association between any molecular aberration in PIK3CA gene, exon 20 and PIK protein expression in colorectal carcinoma development. Methods; The current study achieved in two lines, Molecular study which achieved in advanced researches laboratory in biology department, Faculty of Sciences / University of Kufa, while immunohistochemical study was achieved in histopathology department, faculty of Medicine / University of Kufa. Only Iraqi patients were included in the current study who diagnosed through period extend from 01 December 2019 to 30 February 2021 and any patients diagnosed before or after this period were excluded. Also any samples without case report were excluded. The present study included 103 cases divided into two groups, patients group were included 50 cases with colorectal carcinoma(adenocarcinoma) and 53 cases with other non-adenocarcinoma such as hyperplastic polyp and colitis. According to gender, a study was included 61 male and 42 female. According to patients ages. the average was(50-89) years. The samples were collected from AL-Sader medical city in AL-Najaf province and Medical city in Baghdad province. Blood samples and tissues samples were collected from each 103 patients after enter the hospital(s) and have report of colonoscopy or CT-scan. blood samples were used in molecular line to (DNA extraction and sequencing). Tissues sample were confirmed by H&E examination and from these 102 cases only 50 cases with and other cases were excluded from a study. Breast carcinoma used as positive control for PIK3CA. Results: 27 cases (54%) given positive for staining with PIK3CA antibodies, but with normal genotype in sequencing. Therefore, there was no any correlation between colorectal carcinoma development and any aberration in PIK3CA gene –Exon 20 in current study. According to relation between colorectal carcinoma grades and positive and negative for PIK3CA, 15 cases(44%) in grade I, 8 cases (67%) in grade II and 4 cases (100%) were given positive for PIK3CA. There is positive correlation between grades and both ages and positive and negative cases( P =0.173 and sig=0.229) (P 0.312, sig 0.027) respectively. while, Negative correlation found between gender with both age and grades (p= -0.304, sig= 0.032) (P -0.365, sig=0.009) respectively. Also the negative correlation found between positive or negative cases for PIK3CA with both age and gender (P -0.196, sig 0.172)(P -0.201, sig 0.162) respectively. Conclusion: Due to relation between molecular study of PIK3CA Exon 20 and IHC study of PIK3CA expression, we don't found any relation between PIK3CA expression in patients with colorectal carcinoma and genetic aberration in PIK3CA gene, exon 20. According to relation between PIK3CA score index and grades, increase in PIK3CA score index directly Proportional with advance in grade of colorectal carcinoma. According to grades and cases with positive or negative cases, found numbers of cases that give positive for PIK3CA Abs increase with advance in grades.., There is positive correlation between grades and both ages and positive and negative cases for PIK3CA. while, Negative correlation found between gender with both age and grades. Also the negative correlation found between positive or negative cases for PIK3CA with both age and gender.