• Asian Pacific Journal of Cancer Prevention
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• 제15권18호
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• pp.7955-7958
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• 2014

Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using $chi^2$-test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer, while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.

• Asian Pacific Journal of Cancer Prevention
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• 제16권12호
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• pp.5025-5030
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• 2015

Immunoregulatory cytokines have an influence on hepatitis C virus (HCV) infection outcome. This study aimed to determine whether single nucleotide polymorphisms (SNP) in IFN- ${\gamma}$ and IL-10 genes are associated with susceptibility and/or are markers of prognosis regarding chronic hepatitis C outcomes. IFN ${\gamma}$ (+874T/A) and IL-10 (-1082G/A) genotypes were determined in 75 HCV genotype 4 patients with different disease severities (chronic hepatitis, n=25, liver cirrhosis and hepatocellular carcinoma (HCC) on top of liver cirrhosis, n=50) and 25 healthy participants using allele-specific polymerase chain reaction. No statistical differences in allele or genotype distributions of IFN ${\gamma}$ and IL-10 genes were detected between patients and controls or between patientgroups. No significant difference in the frequency of IL-10 SNP at position -1082 or IFN-${\gamma}$ at position +874T/A was found between chronic HCV genotype 4 and with progression of disease severity in liver cirrhosis or HCC. In conclusion; interferon-${\gamma}$ and interleukin-10 gene polymorphisms are not predictors of disease progression in patients with chronic hepatitis C (Genotype-4).

• BMB Reports
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• 제36권6호
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• pp.533-537
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• 2003

The nonsyndromic cleft lip and palate (NSCL/P) is a congenital deformity of multifactorial origin with a relatively high incidence in the oriental population. Various etiologic candidate genes have been reported with conflicting results, according to race and analysis methods. Recently, the ablation of the TGF-${\beta}3$ gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-${\beta}3$ gene have been studied in different races; however, they have not been studied in Koreans. A novel A $\rightarrow$ G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-${\beta}3$ (IVS5+104 A > G). It resulted in different genotypes, AA, AG, and GG. The objective of this study was to investigate the relationship between the SfaN1 polymorphism in TGF-${\beta}3$ and the risk of NSCL/P in the Korean population. The population of this study consisted of 28 NSCL/P patients and 41 healthy controls. The distribution of the SfaN1 genotypes was different between the cases and controls. The frequency of the G allele was significantly associated with the increased risk of NSCL/P [odds ratio (OR) = 15.92, 95% confidence interval (CI) = 6.3-41.0]. The risk for the disease increased as the G allele numbers increased (GA genotype: OR = 2.11, 95% CI = 0.38-11.68; GG genotype: OR = 110.2, 95% CI = 10.67 - 2783.29) in NSCL/P. A stratified study in patients revealed that the SfaN1 site IVS5+104A > G substitution was strongly associated with an increased risk of NSCL/P in males (p < 0.001), but not in females. In conclusion, the polymorphism of the SfaN1 site in TGF-${\beta}3$ was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.

• Asian Pacific Journal of Cancer Prevention
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• 제14권5호
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• pp.3213-3217
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• 2013

Background: P-glycoprotein (Pgp), encoded by the multidrug resistance 1 (MDR1) gene, is an efflux transporter which plays an important role in pharmacokinetics. The current preliminary study was designed to determine associations between a germ-line polymorphism in the MDR1 gene with differentiated thyroid carcinoma (DTC). Materials and Methods: In the current case-control study, 60 differentiated thyroid cancers (DTC)- 45 papillary TC (PTC), 9 follicular TC(FTC) and 6 well-differentiated tumors of uncertain malignant potential (WDT-UMP) were examined. Results were compared to a healthy control group (n=58) from the same population. Genomic DNA was extracted from peripheral blood with EDTA and the target gene was genotyped by real-time PCR. Results: Carriers of the variant allele of MDR1 exon 26 polymorphism were at 2.8-fold higher risk of DTC than the control group (odds ratio [OR]: 0.3805, 95% confidence interval [Cl]: 0.1597-0.9065 (p> 0.046). Conclusions: Presented results suggest that the MDR1 3435TT genotype might influence risk of development of DTC and that the CC genotype might be linked to a poor prognosis. Large-scale studies are now needed to validate this association.

• 한국수산과학회지
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• 제53권4호
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• pp.492-498
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• 2020

Despite its economic importance, olive flounder Paralichthys olivaceus aquaculture industry is facing a crisis with a continuous production decline. There have been many solutions to overcome the complicate predicament proposed. Increasing genetic diversity and discovering new commercial value through selective breeding are among them. The aims of the present study are to increase the selection power of the golden flounders. We examined the genetic diversity of the breeder population of golden flounders and developed selective markers for the golden flounder population. The 6 microsatellite (MS) markers were selected from melanogenesis-related genes, which are believed to be involved in the pigmentation of fish. All markers were polymorphic (except PO4) and 5 of them had PIC value of 0.6 or above. All makers had distinctive alleles indicating either normal or golden individuals. For examples, from PO4 marker, the frequency of an allele (316) in the golden population was 100% and in normal population was 0% (P<0.001). Although some more studies with more samples at the later generations should be performed to confirm this result, the 316 allele from PO4 marker could be a distinctive tool for decision of the colors in olive flounders at an early stage of the life cycle.

• Asian-Australasian Journal of Animal Sciences
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• 제19권2호
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• pp.165-170
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• 2006

Using the somatic cell hybrid panel (SCHP) and radiation hybrid (IMpRH) panel, porcine SOCS2 gene was mapped at SSC5 (1/2) q21-q24 and closely linked with SW1383 marker (47 cR in distance), while SOCS3 gene was assigned to SSC12p11-(2/3p13) and closely linked with SW2490 (43 cR). The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to detect the expression of these two genes in the different tissues and the results showed that both SOCS2 and SOCS3 genes were widely expressed in tissues investigated (heart, liver, spleen, lung, kidney skeletal muscle, fat and brain), although some tissues showed lower gene expression. Moreover, SOCS2 and SOCS3 genes had different expression levels at different stages, in different tissues and in different breeds. A G/A substitution, which can be recognized by restriction enzyme of Cfr421, was observed in 5' untranslated region (5'-UTR) of SOCS2 gene. The allele frequencies was investigated by PCR-restriction fragment length polymorphism (PCR-RFLP) method and it showed that the allele frequency among Dahuabai, Erhualian, Yushan, Qingping, Large white and Landrace tested were different. Association analysis in a cross experimental populations revealed no significant association between the SOCS2 gene polymorphism and the economic traits investigated. The full-length coding regions (CDs) of porcine SOCS3 gene was obtained by RT-PCR.

• The Korean Journal of Physiology and Pharmacology
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• 제7권3호
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• pp.157-162
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• 2003

Our earlier studies found a significant correlation between the activities of ranitidine N-oxidation catalyzed by hepatic flavin-containing monooxygenase (FMO) and the presence of mutations in exon 4 (E158K) and exon 7 (E308G) of the FMO3 gene in Korean volunteers. However, caffeine N-1 demethylation (which is also partially catalyzed by FMO) was not significantly correlated with these FMO3 mutations. In this study, we examined another common mutation (V257M) in exon 6 of FMO3 gene. The V257M variant, which is caused by a point mutation (G769A), was commonly observed (13.21% allele frequency) in our subjects (n=159). This point mutation causes a substitution of $Val^{257}$ to $Met^{257}$, with transformation of the secondary structure. The presence of this mutant allele correlated significantly with a reduction in caffeine N-1-demethylating activity, but was not correlated with the activity of N-oxidation of ranitidine. In a family study, the low FMO activity observed in a person heterozygous for a nonsense mutation in exon 4 (G148X) and heterozygous for missense mutation in exon 6 (V257M) of FMO3 was attributed to the mutations. Our results suggest that various point mutations in the coding regions of FMO3 may influence FMO3 activity according to the probe substrates of varying chemical structure that correlate with each mutation on the FMO3 gene.

• Journal of Plant Biotechnology
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• 제44권3호
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• pp.312-319
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• 2017

The need to preserve and use plant genetic resources is widely recognized, and the prospect of dwindling plant genetic diversity, coupled with increased demands on these resources, has made them a topic of global discussion. In the present study, the genetic diversity and population structure of 73 ginseng accessions collected from six regions in China were analyzed using eight simple sequence repeat (SSR) markers. Major allele frequencies ranged between 0.38 ~ 0.78, with a mean allele frequency value of 0.571. The number of alleles discovered ranged from 3 to 10 per accession, with a mean number of 7; 56 alleles were discovered in total. Gene diversity (GD) and polymorphic information content (PIC) values were similar to each other, and they ranged from 0.36 ~ 0.77 (mean 0.588) and 0.33 ~ 0.74 (mean 0.548), respectively. Accessions were divided into three clusters based on their phylogenetic relationships and genetic similarities, and although the populations were similar, they were not classified according to the region. Regional genetic diversity was also similar, with slight differences observed based on the number of accessions per region. It is expected that the findings of the present study can provide basic data for future studies on ginseng genetic diversity and for breeding ginseng cultivars.

• 한국작물학회지
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• 제42권2호
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• pp.129-133
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• 1997

한국 재래종 대두(Glycine max) 943계통과 강원도 지성 수집종 야생종(G.soja) 50계통을 polyacrylamide gel electrophoresis와 isoelectric focusing 전기영동으로 LAP 동립효소를 분석한 결과를 요약하면 다음과 같다. PAGE에 의한 Lap1*b는 재래종과 야생종에서 가장 흔한 대립인자였다. Lap1*b의 대립인자 빈도는 한국 야생종(0.94)에서보다 재래종(1.00)에서 더 높았다. 이러한 결과는 한국 재래종 대두는 Lap1 유부자좌에서 Lap1*b 대립인자로 고정되어 있음을 나타내는 것이다. IEF 전기영동법을 이용하여 pH 4∼6.5의 gel에서 LAP 동립효소의 band type을 확인한 결과 재래종과 야생종에서 I type과 II type의 band type을 확인하였다. 재래종과 야생종에서 II type이 6계통(7.2％)과 4계통(8.0％)으로 각각 나타났고 I type은 79계통(92.8％)과 46계통(92.0％)으로 각각 나타났다. 이러한 결과는 다양한 band type이 나타날 수 있는 가능성을 제시하고 있다.

• 사상체질의학회지
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• 제14권2호
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• pp.90-97
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• 2002

Sasang Constitutional Medicine is based on the diversity of human being and medically developed the variation of response to diseases and medicines. The diversity is categorized as four groups Taeyangin, Taeumin, Soyangin, Soeumin according to morphology, physiology, pathology, and pharmacology. The phenotypes of Sasang constitutions represent that constitutions may be possessed of the different genetic backgrounds. To clarify the genetic difference among the Sasang constitutions, we performed a genetic analysis with the 3'-UTR polymorphism of ADPRT (rs=8679) as a pooled DNA sequencing method. ADPRT modulates various nuclear proteins by poly(ADP-ribosy)lation and is involved in the regulation of various cellular processes such as differentiation, proliferation, and tumor transformation. This gene is also involved in the recovery of cell from DNA damage and the brain infarction. The allele frequencies of [T/C] polymorphism of ADPRT of Soeumin and Soyangin groups were (T: 0.94/C: 0.06) and that of Taeumin and Taeyangin groups were (T: l.00/C: 0.00). The allele frequency was not showed the difference between constitution groups. This result represented that the [T/C] polymorphism of ADPRT 3' UTR region was not suitable to classify the constitutions. However, this study is the first trial of Sasang classification according to genetic polymorphism and further analysis will be necessarily to classify the genetic difference of Sasang constitution.