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Background & Aim: Colorectal cancer (CRC) is the third common type of cancer and the second leading cause of death in cancer. DNA damages and chromosomal instability are the greatest risk factors favoring the development of CRC. Exo1 is the only exonuclease involved in the MMR system. In this study because of the important role of Exo1 and in order to assess the susceptible biomarkers associated with the CRC , we have investigated the correlation between SNP of Exo1 gene rs1047840 and risk of CRC. Material & Method: This case-control study was performed on 118 cases and 130 healthy controls who had been referred to Taleghani hospital of Tehran. We analysed genotyping using polymerase chain reaction- restriction fragment length polymorphism and using MseI restriction enzyme. Results: According to our findings the frequencies of AA, AG,GG genotypes in control group were 49/3%, 43/8% and 6/9% and in patient group were 44/9%, 47/5% and 7/6% . The frequency of G and A allels were 71/2% and 28/8% in healthy controls and 68/6% and 31/4% in patients. Conclusions: Base on our findings, rs1047840 polymorphism is not associated with susceptibility to CRC and so we reached on a conclusion that this polymorphism possibly doesn’t have significant role in increasing or decreasing risk of CRC.

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Introduction: Tay-Sachs is a genetic disorder with autosomal recessive inheritance affecting the central nervous system. The disorder mainly results from mutations in the HEXA gene on chromosome 15. Sequencing is used to detect mutations and sequence variations in the HEXA gene, which is expensive and time consuming. Alternatively, linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) could be used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual.

Materials & methods: A large number of SNP markers have been introduced for the HEXA gene in the electronic databases. In the present study the genotype and informative situation of rs2288258 genetic marker in HEXA gene region was investigated using Tetra-primer ARMS PCR technique with newly designed primers in Isfahan population. Estimation of allelic frequency, genotype frequency, presence of Hardy Weinberg Equilibrium (HWE) and the amount of polymorphism information content (PIC) was computed by Power Marker software.

Findings: The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population.

Discussion & conclusions: The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population. Totally, according to the results of this study rs2288258 genetic marker could be introduced as an SNP marker for linkage analysis in carrier detection and prenatal diagnosis of HEXA mutations in Isfahan population.

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Introduction: Niemann Pick Disease (NPD) is a lipid storage disorder with an autosomal recessive inheritance. The disease occurs mainly due to defects in SMPD1 gene (11p15.4), encoding sphingomyelinase. Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver resulting in dysfunction or damage of the brain tissues.
 
Polymorphic markers such as Single Nucleotide Polymorphisms (SNPs) are used in molecular diagnosis of genetic disease through linkage analysis or homozygosity mapping. The allele frequency and degree of heterozygosity of the markers are usually population dependent. The aim of this study was to investigate the allele frequency and degree hetereozygosity of rs67992843 marker located in the SMPD1 gene region in the Iranian population.
 
Materials & methods: 113 unrelated individuals were selected for this study. The marker was genotyped using ARMS PCR with newly designed primers. The results were analyzed by Genepop database and Power Marker software to estimate allelic frequency, heterozygosity rate, presence of Hardy Weinberg Equilibrium (HWE) and polymorphism information content (PIC).
 
Findings: The data showed 31.42% Minor Allele Frequency (MAF), 39.82% heterozygosity rate and PIC 0.338 for rs67992843 marker in the Iranian population.
 
Discussion & conclusions: The results of this study showed that rs67992843 marker could be suggested for linkage analysis and molecular diagnosis of SMPD1 gene in the Iranian population.
 

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Introduction: Genetic factors affect physical performance, exercise response, as well as elite athletic status; Therefore, the aim of the present study was the investigation of the Frequency and association of SNP rs 8111989 in CKMM A/G gene in weightlifting men with non-athlete men.
Material & Methods: In this descriptive study, the subjects were include of all (n=30) elite male weightlifters (league champions, members of national team, and the champions of Asian, world and Olympics) from Isfahan province, age: 21.77±7.11; Height: 179.87±6.98 and weight: 96.87±22.73 (mean±standard deviation) Which compared with 44 non-athletes with similar anthropometric (age, height and weight) characteristics. 4 cc saliva samples were collected from each subject and After DNA extraction, the allelic and genotypic prevalence of CKMM A/G gene was determined by PCR via RFLP and electrophoresis. Independent t-test, chi-square and logistic regression were used to analyze the data via the SPSS software version 20. Also the significance level was considered at P<0.05.
Findings: The results showed that the prevalence of AG genotype was significantly higher than AA and GG genotypes in weightlifting, non-athlete and total population groups (P <0.05). Also, there was no significant relationship between CKMM A/G genotype and weightlifting status and there was no significant difference between weightlifters and non-athletes (P >0.05).
Discussion & Conclusion: The results showed that the selected Iranian weightlifter, which belongs to the Caucasian race group, has potential genetics in endurance abilities as well as strength / power, likely.
 

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Introduction:  According to the conducted studies, breast cancer is one of the most common malignant tumors, and its incidence rate is increasing yearly. One of the measures to reduce the mentalities from breast cancer is early diagnosis of biomarkers, such as Leptin polymorphisms (rs7799039 and rs2167270), and timely treatment. Leptin is an adipocytokine made by fat cells, playing a crucial role in cell proliferation, survival, migration, and immune response. The present study aimed to assess the association between polymorphisms in the Leptin gene and breast cancer risk in Arak, Iran.
Materials & Methods: Two SNPs of the Leptin gene (rs7799039 and rs2167270) were genotyped by PCR-RFLP method (polymerase chain reaction-restriction fragment length polymorphism) in a case-control study, including 80 breast cancer patients and 80 healthy controls. In this study, all statistical analyses were performed in SPSS software (version 26) using the Chi-Squared test at P˂ 0.05 significant level.
Results: Based on the results, rs7799039 and rs2167270 showed no significant association with breast cancer risk (P=0.183 and P=0.86,  respectively). In this study, the mean age in the patient group was 47 ( an age range of 28-79 years).
Conclusion: As evidenced by the obtained results, Leptin gene polymorphisms (rs7799039 and rs2167270) did not increase the risk of breast cancer in the Arak population in Iran. Although based on the present study results, there was no significant association between Leptin gene polymorphisms and breast cancer risk, according to the prominent role of the Leptin gene, the polymorphisms of this gene could be used as biomarkers to predict breast cancer in other populations.