• Asian Pacific Journal of Cancer Prevention
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• v.16 no.11
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• pp.4521-4524
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• 2015

Background: Endometrial carcinoma is the most common malignant tumor of the female genital tract and the fourth most common cancer in Iranian women after breast, colorectal and lung cancers. Various genetic alterations appear to be early events in the pathogenesis of endometrial carcinoma and it seems that PTEN is the most commonly mutated gene in the endometrioid subtype. The aim of the present study was to investigate the correlation between mutations in exon 7 of PTEN gene and endometrial carcinoma. Materials and Methods: Seventy-five patients with endometrial carcinoma and 75 females whose underwent hysterectomy for non tumoral indication were selected for evaluation of PTEN mutations in exon 7 by PCR-SSCP and sequencing. Correlations between the frequency and type of mutation and the pathologic findings of the cancer (tumor subtype, stage and grade) were assessed. Results: All of the samples were obtained from Iranian patients. 60 % (45 cases) of the tumors were endometriod and 40% (30 cases) were of serous type. The grade distributions of the 75 cases according to the FIGO staging system were as follows: low grade, 20 cases; high grade 55 cases, low stage, 41 cases; high stage 34 cases. For exon 7 of the PTEN gene, the analysis showed that there were no mutations in our cases. Conclusions: Our findings in the present study suggest that exon 7 of PTEN does not play any significant role in the development of endometrial carcinoma in Iranian cases.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.65-70
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• 1998

Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the HaeIII restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.

• Food Science of Animal Resources
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• v.31 no.4
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• pp.530-536
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• 2011

It is well established that uncoupling protein 3 (UCP3) is expressed largely in skeletal muscle, white adipose tissue and brown adipose tissue and has been suggested to play important roles in regulating energy expenditure, body weight, thermoregulation as well as fatty acid metabolism and obesity. Therefore, the UCP3 gene was selected as a candidate gene for carcass and meat quality traits in Korean cattle. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the UCP3 gene and to evaluate the association of UCP3 SNP markers with carcass and meat quality traits in Korean cattle. The five exons in the UCP3 gene were sequenced, and ten SNPs were identified. The PCR-SSCP method was then developed to genotype the individuals examined. The g.3076A>G genotype was significantly associated with marbling score (MS) of Korean cattle. Animals with the AA genotype had a higher MS than those with the AG and GG genotypes. No significant associations of the SNP g.3076A>G were observed for any traits. In conclusion, although SNP g.3076A>G, which showed an association with MS, does not cause amino acid changes, this SNP may be used as a DNA marker to select animals that have higher intramuscular fat content.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.7
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• pp.938-943
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• 2002

This study was perfonned to detect polymorphisms of the two candidate genes, bovine BTN (Butyrophilin) and ST AT5a (Signal Transducers and Activators of Transcription) gene using 98 Holstein bulls' frozen semen, and to offer the basic information for QTL (Quantitative Trait Loci) analysis. Each BTN PCR product was digested with endonuclease restriction enzyme. The digested fragments of four BTN PCR products were observed as follows: 316,280, and 162 bp in BTN1, 568, 305 and 263 bp in BTN2, 576, 332, and 244 bp in BTN3, and 573, 291, and 282 bp in BTN4, respectively. The gene frequencies of A and B allele in four BTN loci were as follows: 0.8980 and 0.1020 in BTN1, 0.5510 and 0.4490 in BTN2, 0.8163 and 0.1837 in BTN3, and 0.8875 and 0.1122 in BTN4, respectively. And three genotypes (homotypel, heterotype, and homotype2) for STAT5a were observed by SSCP (single stranded conformational polymorphism) method and the genotype frequencies are 78.57%, 19.39%, and 2.04%, respectively. The PlC (Polymorphism Information Content) value and heterozygosity of four BTN loci were as follows: 0.1695 and 0.1870 in BTN1, 0.3713 and 0.4927 in BTN2, 0.2549 and 0.2999 in BTN3, and 0.1794 and 0.1992 in BTN4, respectively. Comparing with the reported data, PlC value of BTN2 might have the possibility to be useful marker. Other BTN loci indicated skewed allele distribution.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.7
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• pp.4339-4345
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• 2013

Background: The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran. BRCA1 is among the cancer susceptibility genes best known for high penetrance mutations. BRCA1 genotyping is now used to determine patient counseling, management decisions, and prognosis of this syndrome. Materials and Method: Thirty nine patients with clinical BC and 29 high risk healthy women, related to the patients, participated in the study. DNA from blood samples was extracted and analyzed by PCR and SSCP methods in order to find 185delAG and 5382insC founder mutations. In addition, a 251bp fragment of BRCA1's exon 11 was amplified and analyzed for determination of new mutations. Results: The data indicated the presence of 185delAG and 5382insC founder mutations in both groups studied. Two out of 39 BC patients (5.1%) and one out of 29 relatives (3.4%) were suspected to be carriers of 185delAG mutations. However, we found only one patient (2.6%) to be a carrier of a 5382insC mutation. Also, 2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarified mutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a high lifetime risk of breast cancer. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.

• The Journal of Korean Society of Virology
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• v.26 no.1
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• pp.67-76
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• 1996

The methods that make Hantavirus grow consist of inoculation into the experimental animals and cultured cells. The cultured cells, such as Vero-E6 and A549 cells, have been usually used for isolation of the virus and the animals, such as mice and rats, are used for large scale preparation of the virus so far. Furthermore, the cell can be used to maintain the virus and assay the infectivity and the animals can be used for the experiment of viral pathogenicity and challenge for assessment of vaccine. Apodemus mice, the own natural host of the virus, has been used for challenge test of Hantaan virus. However it has been pointed out to difficult handling and breeding the animal in laboratory. Therefore, we attempted to establish a new animal model for challenge test at the time of isolation of Maaji virus which is a new hantavirus similar but distinct to Hantaan virus. In suckling hamster, the titer of Maaji virus and the lethality to mice of the virus were increased gradually in the titer and lethality through passage by intracerebral (IC) inoculation. We tried to re-adapt this brain virus to lung of weanling hamster. The brain passaged virus was inoculated into weanling hamster intramuscularly. Again, the titer of the virus in lung was also increased by continuous passage of this virus. This facts could regarded as adaptation to new environment in which the virus proliferates. To identity the virus passaged in hamster with Maaji virus, both of the virus passaged in hamster brain and lung were compared with Maaji virus (MAA-I) and Hantaan virus (HTN 76-118) by means of restriction fragment length polymorphism (RFLP) and slingle strand conformation polymophism (SSCP). As a result, we conclude that Maaji virus could be adapted successfully to weanling hamster through this passage strategy. Utilizing this adapted Maaji virus strain, hamster model is able to be used for challenge test in hantaviral vaccinology and further experiments utilizing hamster system as a rather available and convenient lab animal are expected.

• Molecular & Cellular Toxicology
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• v.3 no.3
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• pp.195-197
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• 2007

Currently praziquantel is used for treatment of not only clonorchiasis but also other trematodes and cestodes. But cure rate of praziquantel is just 60-80% for most trematodes. It needs for the treatment-failed patients to have more drugs. The cause of failure of treatment is not studied. We just know that the blood level of praziquantel is severely different among the people. We guess that this factor may influence the results of treatment. In an endemic area of human clonorchiasis in Heilongjiang Providence, China, 78 subjects were selected for the study. Three doses of 25 mg/kg (total 75 mg/kg) of praziquantel were administered to 78 clonorchiasis patients. After three weeks of treatment, stool examination was undertaken once again to confirm the cured and uncured subjects. To analyze SNP (single nucleotide polymorphism) of CYP3A5 PS2-1, CYP3A5 PS2-2, and CYP3A5*6, PCR method was done with specifically designed primers. The mutation rates of all sites were not significant statistically. The number of subjects was too small, so we need more subjects and other delivery proteins of bile ducts (ex. MRP etc.) were also considered for effects of praziquantel. We analyzed, for the first time, the entire CYP3A5 gene in a French population, using a polymerase chain reaction- single strand conformational polymorphism (PCR-SSCP) strategy.

• Journal of Gastric Cancer
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• v.3 no.4
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• pp.206-213
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• 2003

Purpose: The clinical implication of p53 mutation in gastric cancer is still unclear, as shown by the discordant results that continue to be reported in the literature. Materials and Methods: To assess p53 gene mutation, tumor p53 overexpression, and serum anti-p53 antibody, we employed a polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, an immunohistochemistry using monoclonal antibody DO-7, and an enzymelinked immunosorbent assay (ELISA), respectively. Results: Of 169 surgical specimens of gastric cancer, mutation at exon $5\∼8$ of the p53 was identified in 33 ($19.5\%$) and was significantly correlated with lymph node metastasis. Overexpression of p53 was found in 62 specimens ($36.7\%$) and had a significant correlation with tumor differentiation. Serum anti-p53 antibody was positive in 18 patients ($10.7\%$). Twenty-three of the mutated tumors ($69.7\%$) and 39 of the non-mutated tumors ($28.7\%$) displayed immunoreactivity. Twelve of the immunopositive tumors ($19.4\%$) and 6 of the immunonegative tumors produced anti-p53 antibody. These differences were statistically significant (P<0.001 and P=0.005, respectively). There was no significant difference in survival according to the mutation of p53. Conclusion: Mutation and overexpression of p53 can be easily detected by immunohistochemistry. However, standardization of the immunohistochemical staining method, as well as guidelines for interpreting the stained result, will produce concordant results and thereby improve clinical application.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.6
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• pp.794-799
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• 2012

The cytochrome P450c17-I (CYP17-I) is one of the enzymes critical to gonadal development and the synthesis of androgens. Two single nucleotide polymorphisms (SNPs) were detected within the coding region of the CYP17-I gene in a population of 75 male Japanese flounder (Paralichthys olivaceus). They were SNP1 (c.C445T) located in exon2 and SNP2 (c.T980C (p.Phe307Leu)) located in exon5. Four physiological indices, which were serum testosterone (T), serum $17{\beta}$-estradiol ($E_2$), Hepatosomatic index (HSI), and Gonadosomatic index (GSI), were studied to examine the effect of the two SNPs on the reproductive endocrines of Japanese flounder. Multiple comparisons revealed that CT genotype of SNP1 had a much lower T level than CC genotype (p<0.05) and the GSI of individuals with CC genotype of SNP2 was higher than those with TT genotype (p<0.05). Four diplotypes were constructed based on the two SNPs and the diplotype D3 had a significantly lower T level and GSI. In conclusion, the two SNPs were significantly associated with reproductive traits of Japanese flounder.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.3309-3314
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• 2013

Spleen tyrosine kinase (SYK) is a non-receptor type cytoplasmic protein and a known tumor suppressor gene in breast cancer. Polymorphisms in SYK have been reported to be associated with cell invasion/cell morality and an increased risk of cancer development. In this case control study, all exons of the SYK gene and its exon/ intron boundaries were amplified in 200 breast cancer cases and 100 matched controls and then analyzed by single stranded conformational polymorphism. Amplified products showing altered mobility patterns were sequenced and analyzed. Twelve variations were identified in exonic and intronic regions of DNA encoding SH2 domain and kinase domain of the SYK gene. All of these mutations are novel. Among them, 5 missense mutations were observed in exon 15 while one missense mutation was found in exon 8. In addition to these mutations, six mutations were also identified in intronic regions. We found a significant association between SYK mutations and breast cancer and observed that Glu241Arg, a missense mutation is associated with an increase risk of ~7 fold (OR=6.7, 95% CI=1.54-28.8), Thr581Pro (missense mutation) is associated with increased risk of ~16 fold (OR=15.5, 95%CI=2.07-115.45) and 63367 T>G (missense mutation) is associated with increased risk of ~13 fold (OR=12.8, 95%CI=1.71-96.71) for breast cancer. Significant associations were observed for each of these variations with both late menopause (p<0.01) and early menarche (p<0.005) cases when compared to controls. Our findings suggest that the polymorphic gene SYK may contribute to the development of breast cancer in at least the Pakistani population. This study provides an insight view of SYK which may provide a significant finding for the pharmaceutical and biotechnology industry.