• Asian-Australasian Journal of Animal Sciences
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• 제22권3호
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• pp.313-318
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• 2009

TIAF1 is a TGF-${\beta}$1-induced anti-apoptotic factor that plays a critical role in blocking TNF (tumor necrosis factor) cytotoxicity in mouse fibroblasts and participates in TGF-${\beta}$-mediated growth regulation. In this study, we obtained the full-length cDNA sequence of the porcine TIAF1 gene. Real-time PCR further revealed that the TIAF1 gene was expressed at the highest level in liver and kidney with prominent expressions detected in uterus, and lower levels detected in heart, spleen, lung, stomach, small intestine, skeletal muscle and fat of Large White pigs. Sequence analysis indicated that a 6 base-pair deletion mutation existed in the exon of the TIAF1 gene between Meishan and Large White pigs. This mutation induced deletion of Gln and Val amino acids. PCR-RFLP was used to detect the polymorphism in 394 pigs of a "Large White${\times}$Meishan" $F_{2}$ resource population and four purebred pig populations. The frequencies of the A allele (with a 6 bp deletion) were dominant in Chinese Meishan and Bamei pigs, and the frequencies of the B allele (no 6 bp deletion) were dominant in Large White and Landrace pigs. Association analyses revealed that the deletion mutation had highly significant associations (p<0.01) with meat marbling score of the thorax-waist longissimus dorsi (LD) muscle (MM1) and intramuscular fat percentage (IMF), and significant associations (p<0.05) with carcass length (CL). The results presented here supply evidence that the 6 bp deletion mutation in the TIAF1 gene affects porcine meat quality and provides useful information for further porcine breeding.

• Asian Pacific Journal of Cancer Prevention
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• 제15권6호
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• pp.2631-2634
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• 2014

Background: p53 gene is a well-known tumor suppressor gene that has several polymorphisms in both its exons and introns. It has been suggested that intron 3 16 bp duplication polymorphism may affect the gene function resulting in reduction or suppression of p53 anti tumor activity. In most case control studies a duplicated allele has been noticeably more frequent in cases rather than controls but there are also conflicting results. The aim of this study was to assess the association of intron 3 16 bp duplication polymorphism of p53 with breast cancer risk among Iranian-Azeri population. We also analyzed the clinicopathological information of patients as an epidemiological description of breast cancer in the north-west of Iran. Materials and Methods: This case-control study was performed on 221 breast cancer patients and 170 controls. Genomic DNA was extracted from peripheral blood samples and tumor tissues. p53 PIN3 genotype was determined using electrophoresis of PCR products on 8% non-denaturing polyacrylamide gels and silver staining. Results: In the control and case groups, respectively, 62.9% and 61.1% had no 16 bp insertion (A1A1 genotype), 7.1% and 7.7% had insertion in both p53 alleles (A2A2) and 30% and 31.2% were heterozygous (A1A2). There was no significant difference between genotype frequencies as well as allelic frequencies in two case and control groups. Conclusions: According to the result of the present study, the intron 3 16 bp duplication polymorphism of p53 could not be assessed as a marker of risk factor for predisposition to breast cancer in Azeri population. However, a high frequency of A2 allele (22.1%) in our population suggested that intron 3 16 bp duplication polymorphism may be a valuable marker for study in other cancers with well designed large groups.

• Asian Pacific Journal of Cancer Prevention
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• 제15권10호
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• pp.4211-4215
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• 2014

Background: Although roles of genetic polymorphisms of leptin receptor (LEPR) gene in several cancers have been documented, the association between polymorphisms of LEPR and clear cell renal cell carcinoma (CC-RCC) remains unknown. The aim of this study was to explore any relation. Materials and Methods: The study population consisted of 77 patients with CC-RCC and 161 healthy control subjects. Polymorphism analyses of Lys109Arg and Gln223Arg were performed by direct DNA sequencing and PCR-restriction fragment length polymorphism approaches respectively. Results: Comparisons of allelic and genotypic frequencies in Lys109Arg and Gln223Arg showed no significant difference between the cases and controls. However, when evaluating the combined genotype of Lys109Arg and Gln223Arg, risk with GG/GG was increased (OR=1.85, 95%CI=1.04-3.30) and with GA/GG or GG/GA was decreased (OR=0.07, 95%CI=0.01-0.54; OR and 95%CI of the latter could not be calculated for a value of zero). Furthermore, the G-G haplotype frequency of Lys109Arg and Gln223Arg in the cases was higher (OR=1.68; 95%CI=1.02-2.76). In contrast, the A-G and G-A haplotype frequencies in the cases were lower than those in the controls (OR=0.06; 95%CI=0.01 to 0.47; OR and 95%CI of the latter could not be calculated for a value of zero). In addition, the Lys109Arg A allele was in LD with the Gln223Arg A allele (d'=0.9399) in the CC-RCC subjects, but not in the controls. Conclusions: Our data suggest that the GG/GG combined genotype and G-G haplotype of Lys109Arg and Gln223Arg can act as evaluating factors for CC-RCC risk.

• Clinical and Experimental Pediatrics
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• 제51권5호
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• pp.523-527
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• 2008

목 적 : HSP는 소아에서 흔한 전신성 혈관염으로 명확한 병인은 밝혀지지 않았으나 염증성 시토카인들이 발병기전에 관여하는 것으로 여겨지며 그중 전환성장인자-${\beta}$가 HSP의 발병기전과 연관이 있는 것으로 보여진다. 본 연구의 목적은 전환성장인자-${\beta}$ 프로모터 유전자의 유전학적 다형성과 HSP 환자에서의 신장 침범과의 관련성을 조사하고자 하는 것이다. 방 법 : 2003년 6월부터 2005년 6월까지 연세대학교 원주기독병원 소아과를 방문하여 HSP로 진단받은 15세 이하 환아 34명과 같은 기간 본원을 방문한 정상 대조군 27명을 대상으로 하였다. 전환성장인자-${\beta}$ 다형성 유전자 표현형은 PCR-RFLP로 환자군과 대조군에서 시행하였다. 결 과 : HSP 환자군과 대조군에서 전환성장인자-${\beta}$ 프로모터 유전자 다형성의 T 대립유전자 빈도는 각각 45%, 48.8% 였으며, T 대립유전자 빈도 간에 통계학적으로 유의한 차이는 없었다(P=0.37). TT 유전자 표현형도 환자군과 대조군에서 빈도의 차이가 없었고(26% vs. 22%, P=0.37), 환자군 중 신장 침범에 있어서도 유의한 차이가 나타나지 않았다(29% vs. 20%, P=0.77). 결 론 : 전환성장인자-${\beta}$ 유전자 다형성의 TT 표현형과 T 대립유전자의 빈도가 HSP 환아의 질병 감수성이나 신장침범과의 연관성을 보임을 관찰할 수 없었으며 HSP 환자들에게 있어서 보다 큰 집단을 대상으로 하는 연구가 전환성장인자-${\beta}$와 신장침범 및 질병 감수성과의 연관성을 명확히 하는데 필요할 것으로 보인다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권4호
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• pp.1719-1723
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• 2014

Background: The current study was aimed to elucidate the association of thymidylate synthase (TYMS) 5'-UTR 28bp tandem repeat and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T polymorphisms with acute leukemia in South Indian subjects. A total of 812 subjects [523 healthy controls, 148 acute lymphoblastic leukemia (ALL) cases and 141 acute myeloid leukemia (AML) cases] were screened for TYMS 5'-UTR 28bp tandem repeat and cSHMT C1420T using PCR-AFLP and PCR-with confronting two-pair primers (CTPP) approaches. TYMS 5'-UTR 2R allele frequencies of controls, ALL and AML cases were 35.3%, 28.0% and 30.1% respectively. This polymorphism conferred protection against ALL (OR: 0.71, 95%CI: 0.53-0.96) while showing no statistically significant association with AML (OR: 0.79, 95%CI: 0.58, 1.07). The cSHMT variant allele (T-) frequencies of ALL and AML cases (6.42% and 5.68% respectively) were significantly lower compared to controls (58.3%). This polymorphism conferred protection against ALL (OR: 0.049, 95%CI: 0.029-0.081) and AML (OR: 0.043, 95%CI: 0.025-0.074). The TYMS 5'-UTR 2R2R genotype was associated with a lower total leukocyte count, smaller percentage of blasts, and more adequate platelet count compared to 2R3R and 3R3R genotypes in ALL cases. No such genotype-dependent differences were observed in AML cases. ALL cases carrying the cSHMT C1420T polymorphism showed higher disease free survival compared to those with the wild genotype. To conclude, the TYMS 5'-UTR 28bp tandem repeat reduces risk for ALL while cSHMT C1420T reduces risk for both ALL and AML. Both also influence disease progression in ALL.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6035-6039
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• 2014

Background: Substantial evidence from epidemiological studies has suggested that increased levels of calcium may play a protective role against colorectal cancer (CRC). Given the vital role of calcium sensing receptor (CaSR) and parathyroid hormone (PTH) in the maintenance of calcium homeostasis, we explored whether the rs1801725 (A986S) variant located in exon 7 of the CaSR gene and the rs6256 variant located in exon 3 of PTH gene might be associated with CRC risk. Materials and Methods: In this study 860 subjects including 350 cases with CRC and 510 controls were enrolled and genotyped using PCR-RFLP methods. Results: We observed no significant difference in genotype or allele frequencies between the cases with CRC and controls for both CaSR and PTH genes either before or after adjustment for confounding factors including age, BMI, sex, smoking status, and family history of CRC. Furthermore, no evidence for effect modification of any association of rs1801725 and rs6256 variants and CRC by BMI, sex, or tumor site was observed. In addition, there was no significant difference in genotype and allele frequencies between the normal weight (BMI < $25kg/m^2$) cases and overweight/obese (BMI ${\geq}25kg/m^2$) cases for the two SNPs. Conclusions: These data indicated that the CaSR gene A986S variant is not a genetic contributor to CRC risk in the Iranian population. Furthermore, our results suggest for the first time that PTH gene variant does not affect CRC risk. Nonetheless, further studies with larger sample size are needed to validate these findings.

• Asian-Australasian Journal of Animal Sciences
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• 제25권6호
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• pp.772-784
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• 2012

Marker-assisted gene pyramiding aims to produce individuals with superior economic traits according to the optimal breeding scheme which involves selecting a series of favorite target alleles after cross of base populations and pyramiding them into a single genotype. Inspired by the science of evolutionary computation, we used the metaphor of hill-climbing to model the dynamic behavior of gene pyramiding. In consideration of the traditional cross program of animals along with the features of animal segregating populations, four types of cross programs and two types of selection strategies for gene pyramiding are performed from a practical perspective. Two population cross for pyramiding two genes (denoted II), three population cascading cross for pyramiding three genes(denoted III), four population symmetry (denoted IIII-S) and cascading cross for pyramiding four genes (denoted IIII-C), and various schemes (denoted cross program-A-E) are designed for each cross program given different levels of initial favorite allele frequencies, base population sizes and trait heritabilities. The process of gene pyramiding breeding for various schemes are simulated and compared based on the population hamming distance, average superior genotype frequencies and average phenotypic values. By simulation, the results show that the larger base population size and the higher the initial favorite allele frequency the higher the efficiency of gene pyramiding. Parents cross order is shown to be the most important factor in a cascading cross, but has no significant influence on the symmetric cross. The results also show that genotypic selection strategy is superior to phenotypic selection in accelerating gene pyramiding. Moreover, the method and corresponding software was used to compare different cross schemes and selection strategies.

• 생명과학회지
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• 제20권7호
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• pp.1086-1092
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• 2010

본 연구는 토종닭 순계(적갈계통, 황갈계통), 토종닭 실용계와 오골계 및 외래품종(Hy-Line Brown: HB, White Leghorn: WL)을 대상으로 13종의 MS marker (ADL0309, ADL181, ADL190, ADL279, LEI0073, LEI0192, MCW083, MCW120, MCW153, MCW214, MCW217, MCW226, MCW322)을 활용하여 집단 및 품종간의 유전적 다양성을 분석 하였다. 13종의 MS marker 내에서 총 120개의 대립유전자를 확인 하였으며 평균 9.2개의 대립유전자를 보유한 것으로 나타났다. 관측된 이형질성, 기대되는 이형질성 및 PIC의 평균값은 각각 0.63, 0.72 그리고 0.678로 확인되었다. 가장 많은 평균대립유전자를 보유한 집단은 토종닭 실용계집단이 5.9로 확인 되었으며 기대되는 이형질성이 0.629로 비교적 높게 나타났다. 이는 토종닭 순계 집단을 이용한 3원 교잡을 통해 실용계집단을 생산하는 과정에서 기인한 것으로 추정된다. 집단 및 품종간의 유전적 유연관계를 분석한 결과 토종닭 순계집단 (R, Y)과 실용계집단(C)은 서로간에 가까운 유전적 거리를 유지하고 있는 것으로 확인되었다. 각 MS marker별 품종간의 이형접합률을 이용하여 각 개체들의 집단 내에서 품종을 식별 할 수 있는 확률인 누적품종식별력(CPD) 값을 계산한 결과 13종의 MS marker를 이용하여 개체의 품종을 구분할 수 있는 확률이 99.461%로 나타났다.

• Asian Pacific Journal of Cancer Prevention
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• 제14권6호
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• pp.3925-3929
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• 2013

We aimed to investigate bladder cancer risk with reference to polymorphic variants of cytochrome p450 (CYP) 1A1, CYP1B1, glutathione S-transferase (GST) M1, and GSTT1 genes in a case control study. Polymorphisms were examined in 114 bladder cancer patients and 114 age and sex-matched cancer-free subjects. Genotypes were determined using allele specific PCR for CYP1A1 and CYP1B1 genes, and by multiplex PCR and melting curve analysis for GSTM1 and GSTT1 genes. Our results revealed a statistically significant increased bladder cancer risk for GSTT1 null genotype carriers with an odds ratio of 3.06 (95% confidence interval=1.39-6.74, p=0.006). Differences of CYP1A1, CYP1B1 and GSTM1 genotype frequencies were not statistically significant between patients and controls. However, the specific combination of GSTM1 null, GSTT1 null, and CYP1B1 codon 119 risk allele carriers and specific combination of GSTM1 present, GSTT1 null, and CYP1B1 432 risk allele carriers exhibited increased cancer risk in the combined analysis. We did not observe any association between different genotype groups and prognostic tumor characteristics of bladder cancer. Our results indicate that inherited absence of GSTT1 gene may be associated with bladder cancer susceptibility, and specific combinations of GSTM1, GSTT1 and CYP1B1 gene polymorphisms may modify bladder cancer risk in the Turkish population, without any association being observed for CYP1A1 gene polymorphism and bladder cancer risk.

• Clinical and Experimental Reproductive Medicine
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• 제31권4호
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• pp.245-251
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• 2004

Objectives: To investigate the distribution and functional significance of $CYP11{\alpha}$ $(tttta)_n$ microsatellite polymorphism in Korean patients with polycystic ovary syndrome Materials and Methods: Analysis of $CYP11{\alpha}$ $(tttta)_n$ microsatellite polymorphism was carried out on DNA samples from 97 patients with polycystic ovary syndrome and 70 normal controls. Comparison were done between PCOS patients and controls concerning $CYP11{\alpha}$ $(tttta)_n$ microsatellite polymorphism genotype or allele frequencies. Results: The most frequent allele observed in the controls was an allele with six repeats (60.7%). Significant difference in the frequency of genotype (4R (-) genotype) having no copy of four-repeatallele were observed between PCOS patients and controls (66.0% vs 34.0%, p=0.038, OR=1.939). But no significant difference was observed in the serum levels of total testosterone or free testosterone between 4R (+) genotype and 4R (-) genotype among PCOS patients. However, hyperandrogenic PCOS patients with 4R (+) genotype showed a higher serum testosterone levels compared to controls (mean $\pm$ S.D: $0.49{\pm}0.21\;ng/ml$ vs $0.37{\pm}0.18\;ng/ml$, p=0.037). Conclusion: The alleleic distribution of $CYP11{\alpha}$ $(tttta)_n$ microsatellite polymorphism in Korean subjects were different from those reported in Caucasians. $CYP11{\alpha}$ $(tttta)_n$ microsatellite polymorphism was associated with polycystic ovary syndrome in the Korean population, and may play a role in the synthesis of androgens in patients with polycystic ovary syndrome.