• Title/Summary/Keyword: Null allele

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Risk Effects of GST Gene Polymorphisms in Patients with Acute Myeloid Leukemia: A Prospective Study

  • Zhou, Lei;Zhu, Yan-Yun;Zhang, Xiao-Dong;Li, Yang;Liu, Zhuo-Gang
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3861-3864
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    • 2013
  • Glutathione S-transferase (GST) enzyme levels are associated with risk of many cancers, including hematologic tumours. We here aimed to investigate the relationships between GSTM1, GSTT1 and GSTP1 polymorphisms and the risk of AML. Genotyping of GSTs was based upon duplex polymerase-chain-reactions with the confronting-two-pair primer (PCR-CTPP) method in 163 cases and 204 controls. Individuals carrying null GSTT1 genotype had a 1.64 fold risk of acute leukemia relative to a non-null genotype (P<0.05). A heavy risk was observed in those carrying combination of null genotypes of GSTM1 and GSTT1 and GSTP1 Val allele genotypes when compared with those carrying wild genotypes, with an OR (95% CI) of 3.39 (1.26-9.26) (P<0.05). These findings indicate that genetic variants of GST and especially the GSTT1 gene have a critical function in the development of AML. Our study offers important insights into the molecular etiology of AML.

Preliminary Study of the GSTM1 Null Polymorphism and History of Tobacco Smoking among Oral Cancer Patients in Northeastern Thailand

  • Natphopsuk, Sitakan;Settheetham-Ishida, Wannapa;Phuthong, Sophida;Ishida, Takafumi
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.2
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    • pp.739-742
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    • 2016
  • Risks with GSTM1 genotypes and potential roles of smoking in the susceptibility to oral squamous cell carcinoma (OSCC) were studied in Northeastern Thailand. Study subjects were 79 histologically-confirmed OSCC cases (31 men, 48 women) and 79 age- and sex-matched healthy controls ranging in age from 25 to 84 years. GSTM1 genotyping was achieved by two independent PCR assays. The GSTM1 null allele and the homozygous genotype did not increase risk of OSCC vs the wild type allele and the remaining genotypes. When the focus was on the smoking habit, male subjects who smoked ${\geq}10$ or ${\geq}35$ years were at significantly increased risk for OSCC with adjusted ORs of 4.88 [95%CI, 1.41-16.87, p=0.012] or 4.94 [95%CI, 1.62-15.12, p=0.005], respectively. A higher risk for OSCC was found for smoking amount; those who smoked >5 or >10 pack-years were at a higher risk with adjusted OR of 4.46 [95%CI; 1.45-13.74, p=0.009] or 3.89 [95%CI; 1.34-11.28, p=0.012], respectively. There are certain smoking patterns that give greater risks and thus both smoking duration and pack-years should be taken into consideration in tobacco related cancer prevention.

Development of Polymorphic Microsatellite Markers Suitable for Genetic Linkage Mapping of Olive Flounder Paralichthys olivaceus

  • Kim, Woo-Jin;Shin, Eun-Ha;Kong, Hee Jeong;Nam, Bo-Hye;Kim, Young-Ok;Jung, Hyungtaek;An, Cheul Min
    • Fisheries and Aquatic Sciences
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    • v.16 no.4
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    • pp.303-309
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    • 2013
  • Microsatellite markers are important for gene mapping and for marker-assisted selection. Sixty-five polymorphic microsatellite markers were developed with an enriched partial genomic library from olive flounder Paralichthys olivaceus an important commercial fish species in Korea. The variability of these markers was tested in 30 individuals collected from the East Sea (Korea). The number of alleles for each locus ranged from 2 to 33 (mean, 17.1). Observed and expected heterozygosity as well as polymorphism information content varied from 0.313 to 1.000 (mean, 0.788), from 0.323 to 0.977 (mean, 0.820), and from 0.277 to 0.960 (mean, 0.787), respectively. Nine loci showed significant deviation from the Hardy-Weinberg equilibrium after sequential Bonferroni correction. Analysis with MICROCHECKER suggested the presence of null alleles at five of these loci with estimated null allele frequencies of 0.126-0.285. These new microsatellite markers from genomic libraries will be useful for constructing a P. olivaceus linkage map.

Oxidative damage biomarker levels according to Mn-SOD and GST gene polymorphisms in preschool children (Mn-SOD와 GST 유전자 다형성에 따른 유아의 산화손상지표의 분포)

  • Shin, You-kyung;Choi, Ji-Won;Oh, Se-Young;Chung, Jayong
    • Journal of Nutrition and Health
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    • v.48 no.6
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    • pp.468-475
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    • 2015
  • Purpose: Genetic polymorphisms in antioxidant defense and detoxification genes may modulate the levels of oxidative stress biomarkers. Methods: A total of 301 healthy preschool-aged children in the Seoul and Kyung-gi areas were recruited. DNA was extracted from blood for genotyping of manganese superoxide dismutase (Mn-SOD) Val16Ala, glutathione S-transferase (GST) P1 Ile105Val, GSTT1 present/null, and GSTM1 present/null polymorphisms by PCR-restriction fragment length polymorphism or multiplex PCR analyses. In addition to a questionnaire survey, the levels of urinary 8-hydroxyl-2-deoxiguanosine (8-OHdG) and plasma malondialdehyde (MDA) were measured by ELISA. Results: Significantly higher urinary 8-OHdG concentrations were observed in GSTP1 Ile/Val + Val/Val genotype (p = 0.030), and tended to be higher in Mn-SOD Val/Val genotype (p = 0.065). On the other hand, exposure to environmental tobacco smoking (ETS) and interaction between ETS and gene polymorphisms did not significantly influence either urinary 8-OHdG concentrations or serum MDA. Conclusion: Based on our findings, GSTP1 Ile/Val gene polymorphisms might modulate the levels of oxidative stress biomarkers in healthy preschool children.

A Gene-based dCAPS Marker for Selecting old-gold-crimson (ogc) Fruit Color Mutation in Tomato (토마토 과색 돌연변이 유전자(old-gold-crimson) 선발을 위한 dCAPS 분자표지 개발)

  • Park, Young-Hoon;Lee, Yong-Jae;Kang, Jum-Soon;Choi, Young-Whan;Son, Beung-Gu
    • Journal of Life Science
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    • v.19 no.1
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    • pp.152-155
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    • 2009
  • The old-gold-crimson ($og^c$) fruit color mutation produces deep red tomato fruit with high lycopene content. age is a null mutation allele of lycopene-${\beta}$-cyclase (Crt-b) gene (B locus) that converts lycopene to ${\beta}$-carotene in the cartenoid biosynthesis pathway in tomato. Breeding of high lycopene tomato cultivars can be accelerated by marker-assisted selection (MAS) for introgression of $og^c$ allele by using a gene-based DNA marker. In order to develop a marker, single nucleotide deletion of adenine(A) with. in a poly-A repeat that has been known to be responsible for frame-shift mutation of $og^c$ was confirmed by resequencing mutant allele and wild-type allele at B locus of several tomato lines. For allele discrimination and detection of $og^c$, derived CAPS (dCAPS) approach was used by designing a primer that artificially introduced restriction enzyme recognition site of Hin fI in PCR products from $og^c$ allele. This dCAPS marker is co-dominant gene-based PCR marker that can be efficiently used for MAS breeding program aiming the development of high lycopene tomato.

Allelic Variation of Glutenin, Granule-Bound Starch Synthase l and Puroindoline in Korean Wheat Cultivar

  • Park, Chul-Soo;Pena, Roberto J.;Baik, Byung-Kee;Kang, Chon-Sik;Heo, Hwa-Young;Cheong, Young-Keun;Woo, Sun-Hee
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.54 no.2
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    • pp.181-191
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    • 2009
  • To investigate the genetic variation of high-and low-molecular-weight glutenin subunits (BMW-GS and LMW-GS), granule-bound starch synthase I (GBSSI) and puroindoline in 24 Korean wheat cultivars. At the BMW-GS compositions, three Glu-A1 alleles, five Glu-B1 alleles and three Glu-D1 alleles were identified. The high frequency of alleles at each locus was Glu-A1c allele (15 cultivars), Glu-B1b allele (16 cultivars) and Glu-D1f allele (16 cultivars). Four alleles were identified at the Glu-A3 and Glu-B3 loci and three at Glu-D3 locus and Glu-A3d, Glu-B3d and Glu-D3a were mainly found at each Glu-3 locus. Glu-A3d, Glu-B3d, Glu-D3b or c (4 cultivars, respectively) and Glu-A3d, Glu-B3d, Glu-D3a and Glu-A3c, Glu-B3d or h, Glu-D3a (3 cultivar, respectively) were predominantly found in Korean wheats. At the GBSS compositions, 2 waxy wheat cultivars, Shinmichal and Shinmichal1, showed null alleles on the Wx loci and other cultivars were wild type in GBSS compositions. At the puroindoline gene compositions, Korean wheat cultivars carried 3 genotypes, which 10 cultivars (41.7%) were Pina-D1a and Pinb-D1a, 11 cultivars (45.8%) had Pina-D1a and Pinb-D1b and 3 cultivars (12.5%) carried Pina-D1b and Pinb-D1a. These genetic variations could present the information to improve flour and end-use quality in Korean wheat breeding programs.

Methylenetetrahydrofolate Reductase Gene C677T Polymorphism and Lung Cancer: an Updated Meta-analysis

  • Hou, Xin-Heng;Huang, Yu-Min;Mi, Yuan-Yuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.2025-2029
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    • 2012
  • Objective: Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides needed for DNA synthesis and repair. Variations in MTHFR functions likely play roles in the etiology of lung cancer (LC). So far, several studies between MTHFR C677T polymorphism and LC provide controversial or inconclusive results. Methods: To better assess the purported relationship, we performed a meta-analysis of 14 publications. Eligible studies were identified by searching the Pubmed, Embase, Web of Science and Google Scholar databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Results: Overall, no significant association was detected between the MTHFR C677T polymorphism and LC risk, the same as in race subgroup. However, in the stratified analysis by histological type, significantly increased non-small-cell lung cancer (NSCLC) risk was indicated (T-allele vs. C-allele: OR = 1.11, 95%CI = 1.03-1.19; TT vs. CC: OR = 1.24, 95%CI = 1.09-1.41; TC vs. CC: OR = 1.11, 95%CI = 1.03-1.20 and TT+TC vs. CC: OR = 1.09, 95%CI = 1.03-1.15). At the same time, ever-smokers who carried T-allele (TT+TC) had a 10% decreased LC risk compared with CC genotype carriers. Conclusions: Our study provided evidence that the MTHFR 677T null genotype may increase NSCLC risk, however, it may protect ever-smokers against LC risk. Future studies with large sample sizes are warranted to further evaluate this association in more detail.

DNA Polymorphism in 5'-Flanking Region of Human Apolipoprotein A1 and Glutathione S-Transferase Mu1 Gene in Koreans

  • Jeong, Gi-Hwa;Kim, Hyeon-Seop;Lee, Hyeon-Suk;Choe, Wi-Hyeong;Kim, Jun-Gi;Lee, Yeon-Suk;Kim, Nam-Geun;Lee, Gyeong-Ryeong;Lee, Jeong-Chu
    • Animal cells and systems
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    • v.1 no.2
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    • pp.351-354
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    • 1997
  • The distributions of G to A substitution ($G^{-75}{\rightarrow}A$) mutation in the human apolipoprotein A1 (APOAI) gene promoter region and glutathione S-tran-sferase Mu1 (GSTM1) gene deletion were examined in subjects with Korean population. The $G^{-75}{\rightarrow}A$ mutation of APOA1 was genotyped by the polymerase chain reaction (PCR) and subsequent digestion of the PCR product using either Mspl or Mval (n=206). The observed numbers of GG, GA and AA genotypes were 132, 63 and 11, respectively. The allele frequencies of G and A were 0.794 and 0.206, respectively. The GSTM1 gene deletion was simply examined by the PCR amplification (n=106). The observed numbers of null type ($GSTM1^*0/GSTM1^*0$) and positive type were 55 and 51, respectively. The allele frequency of $GSTM1^*0$ was 0.720.

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Association between Single Nucleotide Polymorphisms in the Dgat2 Gene and Beef Carcass and Quality Traits in Commercial Feedlot Steers

  • Li, J.;Xu, X.;Zhang, Q.;Wang, X.;Deng, G.;Fang, X.;Gao, X.;Ren, H.;Xu, S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.7
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    • pp.943-954
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    • 2009
  • Diacylglycerol acyltransferase (DGAT) is a key enzyme that catalyzes the final and rate-limiting step of triglyceride synthesis. Both DGAT1 and DGAT2 genes code proteins with DGAT activity. Studies have shown DGAT1 polymorphisms associate with intramuscular fat deposition in beef cattle, but fewer associations between DGAT2 and beef cattle economic traits have been reported. The objective of this study was to investigate single nucleotide polymorphism (SNP) in intron3 of bovine DGAT2 and evaluate the associations of that with carcass, meat quality, and fat yield traits. Test animals were 157 commercial feedlot steers belonging to 3 Chinese native breeds (22 for Luxi, 24 for Jinnan, and 23 for Qinchuan), 3 cross populations (20 for Charolais${\times}$Fuzhou, 18 for Limousin ${\times}$Luxi, and 17 for Simmental${\times}$Jinan) and 1 Taurus pure breed population (16 Angus steers). In the current study, 15 SNP were discovered in intron3 and exon4 of DGAT2 at positions 65, 128, 178, 210, 241, 255, 270, 312, 328, 334, 365, 366, 371, 415, and 437 (named as their positions in PCR amplified fragments). Only 7 of them (128, 178, 241, 270, 312, 328, and 371) were analyzed, because SNP in three groups (65-128-255, 178-210-365 and 241-334-366) were in complete linkage disequilibrium within the group, and SNP 415 was a deletion and 437 was a null mutation. Frequencies for rare alleles in the 3 native breed populations were higher than in the 3 cross populations for 178 (p = 0.04), 270 (p = 0.001), 312 (p = 0.03) and 371 (p = 0.002). A general linear model was used to evaluate the associations between either SNP genotypes or allele substitutions and the measured traits. Results showed that SNP 270 had a significant association with the fat yield associated with kidney, pelvic cavity, heart, intestine, and stomach (KPHISY). Animals with genotype CC and CT for 270 had less (CC: -7.71${\pm}$3.3 kg and CT: -5.34${\pm}$2.5 kg) KPHISY than animals with genotype TT (p = 0.02). Allele C for 270 was associated with an increase of -4.26${\pm}$1.52 kg KPHISY (p = 0.006) and $-0.92{\pm}0.45%$ of retail cuts weight percentage (NMP, Retail cuts weight/slaughter body weight) (p = 0.045); allele G for 312 was associated with an increase of -5.45${\pm}$2.41 kg KPHISY (p = 0.026). An initial conclusion was that associations do exist between DGAT2 gene and carcass fat traits. Because of the small sample size of this study, it is proposed that further effort is required to validate these findings in larger populations.

Identification of Granule Bound Starch Synthase (GBSS) Isoforms in Wheat

  • Seo, Yong-Weon;Hong, Byung-Hee;Ha, Yong-Woong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.43 no.2
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    • pp.89-94
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    • 1998
  • Granule bound starch synthase (GBSS), also known as the '"waxy protein'", is responsible for the synthesis of amylose in the amyloplasts of cereal crops. In hexaploid wheat (Triticum aestivum L.), GBSS is involved in amylose synthesis and rolls as an important factor to determine flour quality and end-use quality in food products. Genes on three Wx loci have been found to encode GBSS in common wheats. We developed techniques for the purification and separation of GBSS in wheat. Three major GBSS isoforms, which were encoded by the genes on three loci, Wx-A1, Wx-B1, and Wx-D1 migrating differently by one dimensional SDS-po-lyacrylamide gel electrophoresis (1D SDS-PAGE), were identified. GBSS from 66 Korean hard and soft winter wheats were purified and determined for their Wx loci and four of them were identified possessing a null allele either at the Wx-A1 and Wx-B1 loci. With help of identification of three GBSS isoforms using 1D SDS-PAGE system, we are able to identify and monitor Wx gene expressions in breeding materials for developing waxy or partial waxy wheats without experiencing consecutive selecting generations.cting generations.

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