Summary
The present study was performed on (40) individual which were selected at specific period between September 2015 and February 2016 in Rizgary and Nanakaly hospitals-Erbil city. The individuals were consist of (14) normal individuals (control) and (26) patients. Each patient was providing with a questionnaire form, all patients gave their written informed consent, questionnaires which includes information about the (Name ,Gender, Age, Phone No., Address, Occupation, Stage of cancer, Medicine, and Family history) to determine cytogenetic (Chromosomal aberrations ) and molecular study of FAT4 gene of colorectal cancer patients and controls. The following result were obtained in this present study:
- In our study, results of family history relation demonstrated that 30.7% case have positive family history and 69.2% case have negative family history for colorectal cancer.
- Cytogenetic study was applied on (26) colorectal cancer patients and on (14) normal individuals. There were (11) different types of chromosomal aberration were observed in patients group, including (8.00% dicentric aberration,7.23% ring aberration, 5.40% chromatid break with fragment, 4.37% chromatid gap, 4.05% chromosome break with fragment, 3.80%, chromosome break without fragment, 3.50 % chromosome gap, 3.00% centromeric break, 2.94% chromatid break without fragment, 2.24% tetrad, and 2% centromeric gap). Also it was shown that the effect of age on dicentric aberration was statistically significant at (p≤0.05).
3. Molecular study was applied on colorectal cancer patients and on normal individual (control ) from Rizgary and Nanakaly hospitals in Erbil city. Deoxyribonucleic acid (DNA) extraction from (26) colorectal patients and (14) controls to determine mutations in FAT4 gene(exon4). Analysis of DNA quantity and purity was performed using a nano-drop instrument. The PCR amplification was performed on the genomic DNA with pairs of primers spanning the exon region of the FAT4 gene (exon4).
Ten patients selected for sequencing analysis that observed with different type of chromosomal aberrations during cytogenetic study .
Three types of mutations of FAT4 gene (exon4) observed in all ten samples in our study including (deletion, insertion, substitution) causes missense, framshift and silent mutations which lead to producing non functional proteins.
Our results show common mutations of the ten samples: Sample number (1)deletion(A) in position 13 at codon 2, deletion (A, A) in position 20, 21 at codon5, and insertion G in position 300 at codon 99 causes frameshift mutation, substitution T>C in position 152 at codon 50 the amino acid Tryptophan change to Arginine. Sample number(2, and 5) substitution T>C in position 150,153 respectively at codon 43 and Sample number (3) substitution T>C in position 153 at codon 46 causes silent mutation. Sample number (4 and 7) substitution T>C in position 150, 151 respectively at codon 45 the amino acid Tryptophan change to Arginine causes a missense mutation. Sample number (6) deletion G in position 93 at codon 8 causes a frameshift mutation. Sample number (8) substitution T>C in position 204 codon 38 the amino acid Methionine change to Threonine causes a missense mutation. Sample number (9,10) substitution T>C in position 152 at codon 46 causes a silent mutation
posted:25-1-2017