• Title/Summary/Keyword: genotypes

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Polymorphic Variation in Glutathione-S-transferase Genes and Risk of Chronic Myeloid Leukaemia in the Kashmiri Population

  • Bhat, Gulzar;Bhat, Ashaqullah;Wani, Aadil;Sadiq, Nida;Jeelani, Samoon;Kaur, Rajinder;Masood, Akbar;Ganai, Bashir
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.69-73
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    • 2012
  • Cancer is a complex disease and the genetic susceptibility to it could be an outcome of the inherited difference in the capacity of xenobiotic metabolizing enzymes. Glutathione-S-transferases (GSTs) are phase II metabolizing enzymes whose various genotypes have been associated with increased risk of different types of cancer. Null mutations caused by the deletion of the entire gene result in the absence of the enzymatic activity and increase in the risk of developing cancer including chronic myeloid leukaemia (CML). In the present case-control study we evaluated the effect of null mutations in GSTM1 and GSTT1 genes on the risk of developing CML. The study included 75 CML patients (43 males and 32 females; age (mean ${\pm}$ S.D) $42.3{\pm}13.4$ years) and unrelated non-malignant controls (76 male and 48 females; age (mean ${\pm}$ S.D) $41.5{\pm}12.9$). The distribution of GSTM1 and GSTT1 genotypes in CML patients and controls was assessed by multiplex-PCR method. Logistic regression was used to assess the relationship between GSTM1 and GSTT1 genotypes and risk of CML. Chi-square test was used to evaluate the trend in modulating the risk to CML by one or more potential high risk genotype. Although GSTM1 null genotype frequency was higher in CML patients (41%) than in the controls (35%), it did not reached a statistical significance (OD = 1.32, 95% CI: 0.73-2.40; P value = 0.4295). The frequency of GSTT1 null genotypes was higher in the CML patients (36%) than in the controls (21%) and the difference was found to be statistically significant (OD = 2.12, 95% CI: 1.12-4.02; P value = 0.0308). This suggests that the presence of GSTT1genotype may have protective role against the CML. We found a statistically significant (OD = 3.09, 95% CI: 1.122-8.528; P value = 0.0472) interaction between the GSTM1 and GSTT1 null genotypes and thus individuals carrying null genotypes of both GSTM1 and GSTT1 genes are at elevated risk of CML.

Association of Insulin-Like Growth Factor-I (IGF-I) Gene Polymorphism with Serum IGF-I Concentration and Body Weight in Korean Native Ogol Chicken

  • Seo, D.S.;Yun, J.S.;Kang, W.J.;Jeon, G.J.;Hong, K.C.;Ko, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.7
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    • pp.915-921
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    • 2001
  • IGF-I is involved in the regulation of growth and differentiation in mammals, but its role as a modulator of growth and metabolism in poultry is poorly understood. And, no studies have so far been reported for the comparison between serum IGF-I concentration and body growth in the egg type or the dual purposes (meat and egg type) chicken including the Korean Native Ogol Chicken (KNOC). Therefore, in order to improve the body growth and meat production of the KNOC, this study was conducted for the identification of the polymorphism of IGF-I gene and for its possible association with both body weight and IGF-I concentration. The RFLP patterns for IGF-I gene were identified by the PstI restriction enzyme. The frequencies of +/+, +/-, and -/- genotype were 16.9%, 51.7%, and 31.4%, respectively. Any statistical significance was not observed in all variations except for sex variation (p<0.01) by covariate quadratic model. The significant effect of the IGF-I genotype on body weight by sex indicates that there are different physiological characteristics in gender. Although the body weights of male KNOCs in most ages were not significant, there was a tendency of KNOCs with +/+ IGF-I genotype to be heavier than those with any other genotypes. But all IGF-I genotypes in female did not influence on body weight. The ANOYA revealed no significant effects of IGF-I genotypes on serum IGF-I concentration but sex effect was highly significant on the IGF-I concentration at 20 and 40 weeks (p<0.01). Although the +/+ genotype, in gender, tended to express a higher IGF-I concentration than the other genotypes at all ages in males, a statistical difference among the genotypes was not found except for 60 weeks (p<0.05). Furthermore, since body weight and IGF-I genotypes are associated, it is possible to improve KNOC to a meat type breed if a continuous selection can be made for the body weight and/or IGF-I traits.

Association of the Genotypes of Single Nucleotide Polymorphism Marker rs81437607 with Capric Acid Contents in longissimus dorsi Muscle in Pigs (돼지 등심 내 카프르산 함량과 단일염기다형 마커 rs81437607 유전자형의 상관)

  • Kim, Sang-Geum;Park, Hee-Bok;Kang, Yong-Jun;Shin, Hyunsook;Cho, Sang-Rae;Lee, Wang-Shik;Han, Sang-Hyun;Cho, In-Cheol
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.235-242
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    • 2016
  • This study tested the association between genotypes of the single nucleotide polymorphism (SNP) marker, rs81437607 and capric acid (FA_C10_0) compositions in longissimus dorsi muscle in pigs. Eighteen fatty acid (FA) compositions were measured in a total of 974 $F_2$ animals among 1,106 $F_2$ progeny produced between Landrace and Jeju Black Pig (JBP). Among FA compositions tested, we identified a cluster of highly significant SNPs for capric acid compositions on 58 Mb position of Sus scrofa chromosome 12 (SSC12) using genome-wide association study (GWAS) with $F_2$ genotypes from SNP panel analysis. GWAS results showed that the rs81437607 was the highest trait-related SNP marker with capric acid levels. Three genotypes (C/C, C/T and T/T) of rs81437607 marker were found in $F_2$ population by further pyrosequencing. Association analysis results showed the significant differences between rs81437607 genotypes and capric acid compositions (P<0.05). The $F_2$ pigs harboring rs81437607 C/C ($0.119{\pm}0.002%$) and C/T ($0.116{\pm}0.002%$) genotypes showed additively higher levels of capric acid content than those of T/T homozygotes ($0.109{\pm}0.002%$) ($P=1.30{\times}10^{-12}$). These results suggested that the genetic variations of rs81437607 may be helpful to find causative variants and assist as molecular genetic markers for improving the capric acid contents in longissimus dorsi muscle in pigs.

Tolerance of Rice(Oryza sativa L.) Genotypes to Herbicide Thiobencarb (벼 품종(品種)의 제초제(除草劑) Thiobencarb에 대한 내성(耐性) 검정(檢定))

  • Shin, Seo-Ho;Lee, Young-Man
    • Korean Journal of Weed Science
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    • v.17 no.2
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    • pp.176-184
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    • 1997
  • The rice(Oryza saliva L.) tolerance to herbicide thiobencarb was determined. At the concentration of thiobencarb 3.0kg ai/ha, Yamabiko, M73 (23)F.A, and wx 139-3-64-220-3-1 were the most tolerant among 643 rice genotypes tested. Thiobencarb reduced plant height until 14 days after treatment by 10% and 13% in tolerant and susceptible genotypes, respectively, but increased plant height in 21 days after treatment for both the genotypes, though partial stunting or dwarfing was observed during the early period until 14 days after treatment. Number of tillers per plant was greater in the plants treated by thiobencarb than in the control, showing that the tolerant genotypes had 2 to 3 tillers which were more than the susceptible ones. Regardless of the genotypes, shoot dry weight was increased by 30 to 50% in 35 days after thiobencarb treatment. The root dry weight increased by 50 to 100% in 35 days after the treatment.

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Effects of Heat Treatment on Soybeans With and Without the Gene Expression for the Kunitz Trypsin Inhibitor: Chick Growth Assays

  • Burnham, L.L.;Kim, I.H.;Hancock, J.D.;Lewis, A.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.13 no.12
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    • pp.1750-1757
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    • 2000
  • A total of 864 broiler chicks were used at Kansas State University and the University of Nebraska to determine the effects of heat treatment of two soybean genotypes on the growth performance. The soybeans were Williams 82 variety with (+K) and without (-K) gene expression for the Kunitz trypsin inhibitor. Heat treatment (autoclaving at $121^{\circ}C$ and $1.1kg/cm^2$) was applied for 0, 3, 6, 12, 18, and 24 min, resulting in a $2{\times}6$ factorial arrangement of treatments. Station and station treatment effects occurred, indicating that response in nutritional value of the soybean genotypes to heat treatment varied from year to year and location to location. However, the interactions were in magnitude of response rather than direction of response, with greater reductions in trypsin inhibitor concentrations for the soybeans heat processed at the Nebraska location. Pooled data indicated that -K supported greater (p<0.001) ADG, ADFI and gain/feed than the +K genotype. As the length of heat treatment increased, the ADG, ADFI, and the gain/feed ratio increased for chicks fed both soybean genotypes (p<0.0001). However, heating the -K soybeans resulted in a greater response in ADG, ADFI, and gain/feed than heating the +K soybeans (genotype heat treatment interaction, p<0.001). Pancreatic weights (mg pancreas/g of BW) of chicks fed -K soybeans were reduced compared to those from chicks fed +K (p<0.001). Increasing heat treatment decreased pancreas weights in chicks fed both soybean genotypes (p<0.001). Chicks fed heated soybeans in the Nebraska experiment had lower pancreatic weights than chicks fed heated soybeans in the Kansas experiment (station heat treatment interaction, p<0.0001). Chick growth performance was improved and pancreatic weights decreased by feeding raw -K soybeans versus raw +K soybeans, and by increasing heat treatment of both soybean genotypes. However, the response to heat treatment was not independent of genotype. Both +K and -K soybeans heated for 24 min supported similar ADG, ADFI, gain/feed, and pancreas weights, although chicks fed raw +K soybeans had lower growth performance than chicks fed -K soybeans. In conclusion, raw -K soybeans supported greater growth performance in broiler chicks than raw +K soybeans, although this advantage was lost when both soybean genotypes were heated for 24 min. Heat treatment of +K soybeans supported similar growth performance to heated -K soybeans, even though +K soybeans supported lower rates and efficiencies of gain than -K soybeans when fed raw.

Relationships Between Bovine Growth Hormone Gene Polymorphism and Semen Characteristics in Hanwoo Bull (한우 종모우의 소 성장호르몬 유전자 다형과 정액성상과의 관계)

  • Lee, S.S.;Kim, J.H.;Jeong, J.;Park, N.H.
    • Journal of Animal Science and Technology
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    • v.44 no.6
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    • pp.693-700
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    • 2002
  • The objects of this study were to estimate gene frequencies of the bovine growth hormone(bGH), and to investigate the relationship between the bGH polymorphism and semen characteristics in Hanwoo bull. One hundred nine heads of Hanwoo bulls were used to identify bGH genotypes by the PCR-RFLP, followed by digestion with Alu I restriction enzyme. The frequencies of leucine(Leu) and Valine(Val) alleles were 0.88 and 0.12, respectively. Observed number of LL, LV and VV genotypes were 83, 25 and 1, respectively. Semen characteristics(semen volume, sperm concentration) were analyzed by GH genotypes in 25,559 ejaculates of 109 heads. Although bGH genotypes showed no significant effects on semen characteristics, those of bulls with VV genotype were tended to be lower than those of other bulls with LL or LV genotypes. And, in 1998, total sperm number(60.47${\times}$$10^8$) of VV bulls were significantly lower(P<0.05) than those(86.21${\sim}$92.22${\times}$$10^8$) of other genotypes bulls. This results provide that the VV bull in bGH locus may be worse, under the LL and LV bulls on semen characteristics. However, the number of examined VV bulls was only one and further investigations are needed to confirm the results.

Distribution of HCV Genotypes in Chronic Korean HCV Patients

  • Lee, Kyung-Ok;Jeong, Su-Jin;Byun, Ji-Young;Shim, Ae-Sug;Seong, Hye-Soon;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.1
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    • pp.49-55
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    • 2007
  • HCV is a single-stranded RNA virus and more than 1 million new cases are reported annually worldwide. The six major HCV genotypes and numerous subtypes vary in their geographic distribution. It is thought that genetic heterogeneity of HCV may account for some of the differences in disease outcome and response to treatment observed in HCV infected persons. In this study, we determined HCV genotypes among chronic Korean HCV patients and evaluated direct sequence PCR protocols developed. For the study, 232 chronic HCV patient sera were used. HCV RNA was extracted and two pairs of consensus PCR primers were selected in 5'UTR region for amplification of HCV RNA. Amplification products obtained from the HCV positive cases were subjected to automatic sequencing. Sequences were compared with those in GenBank by using the BLAST program. From this study, five HCV genotypes, 1b, 2a, 2b, 2c and 3a were found. HCV genotypes 4, 5 and 6 were not determined. HCV genotype 1b (53.9%, 125/232) and 2a (35.8%, 83/232) were most frequently found. This group was followed by 2b (3.9%, 9/232), 3a (3.4%, 8/232) and 2c (3.0%, 7/232). The data presented here suggest a complex distribution of HCV types and they were well correlated with other reports on Koreans and will be helpful for type-specific follow-up of Korean HCV patients. This study showed that 5'UTR direct sequence analysis is a sensitive and rapid method to identify HCV genotypes.

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Genotypes of Lysophospholipase I (LYPLA1) Gene Associate with Carcass Traits of the Jeju Crossbred Cattle (Hanwoo × Jeju Black cattle) and Hanwoo Populations (제주도산 한우와 제주흑한우 집단의 도체형질에 대한 Lysophospholipase I (LYPLA1) 유전자형의 효과)

  • Han, Sang-Hyun;Seong, Pil-Nam;Cho, In-Cheol
    • Journal of Life Science
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    • v.27 no.7
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    • pp.760-766
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    • 2017
  • Genotypes of the nucleotide substitution g.23655332G>C of SNP marker rs385360448 at Lysophospholipase I (LYPLA1) gene intron 7, were tested for their effect on the carcass traits of Hanwoo and Jeju Crossbred cattle ($F_1$ progeny produced between Hanwoo ${\times}$ Jeju Black cattle) populations on Jeju Island. In the Hanwoo steer population, the meats containing LYPLA1 rs385360448 G/- genotypes showed significantly higher marbling scores and greater texture indices, compared to those of rs385360448 C/C homozygous animals (p<0.05). However, the LYPLA1 genotypes were not associated with the levels of carcass weight, backfat thickness, eye muscle area (EMA), meat color, and fat color (p>0.05). On the other hand, in the JCC steer population, the LYPLA1 G/- harboring meats showed significantly greater EMA levels, compared to those of C/C homozygotes (p<0.05). The results of the present study indicate that the LYPLA1 genotypes could alter the levels of intramuscular fat deposition, texture index, and eye muscle area via phospholipid metabolism in the Longissimus dorsi muscle of the cattle. These findings suggested that LYPLA1 genotypes may effect molecular genetic markers in the improvement of carcass traits of Hanwoo and Jeju Black industrial cattle populations on Jeju Island.

Generation and Characterization of a Neutralizing Human Monoclonal Antibody to Hepatitis B Virus PreS1 from a Phage-Displayed Human Synthetic Fab Library

  • Jo, Gyunghee;Jeong, Mun Sik;Wi, Jimin;Kim, Doo Hyun;Kim, Sangkyu;Kim, Dain;Yoon, Jun-Yeol;Chae, Heesu;Kim, Kyun-Hwan;Hong, Hyo Jeong
    • Journal of Microbiology and Biotechnology
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    • v.28 no.8
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    • pp.1376-1383
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    • 2018
  • The hepatitis B virus (HBV) envelope contains small (S), middle (M), and large (L) proteins. PreS1 of the L protein contains a receptor-binding motif crucial for HBV infection. This motif is highly conserved among 10 HBV genotypes (A-J), making it a potential target for the prevention of HBV infection. In this study, we successfully generated a neutralizing human monoclonal antibody (mAb), 1A8 (IgG1), that recognizes the receptor-binding motif of preS1 using a phage-displayed human synthetic Fab library. Analysis of the antigen-binding activity of 1A8 for different genotypes indicated that it can specifically bind to the preS1 of major HBV genotypes (A-D). Based on Bio-Layer interferometry, the affinity ($K_D$) of 1A8 for the preS1 of genotype C was 3.55 nM. 1A8 immunoprecipitated the hepatitis B virions of genotypes C and D. In an in vitro neutralization assay using HepG2 cells overexpressing the cellular receptor sodium taurocholate cotransporting polypeptide, 1A8 effectively neutralized HBV infection with genotype D. Taken together, the results suggest that 1A8 may neutralize the four HBV genotypes. Considering that genotypes A-D are most prevalent, 1A8 may be a neutralizing human mAb with promising potential in the prevention and treatment of HBV infection.

Associations between Insertion/deletion Polymorphisms in Galactose Mutarotaseand Carcass Traits in the Hanwoo Population of Jeju Island (제주도 한우 집단에서 Galactose mutarotase (GALM) 유전자의 삽입/결실 다형성과 도체형질의 연관성 분석)

  • Yoo-Kyung Kim;Jongan Lee;Sang-Min Shin;Yeoung-Gyu Ko;Ji-Hyun Yoo;Miyoung Won
    • Journal of Life Science
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    • v.33 no.12
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    • pp.987-994
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    • 2023
  • This study examined the associations between the genotypes of the galactose mutarotase (GALM) gene and carcass traits in the Hanwoo population of Jeju Island, South Korea. The GALM genotypes were determined by the 14-bp (5'-GGTCTAATGACCAG-3') insertion/deletion (InDel) polymorphisms of the 3'-untranslated region (UTR). All three genotypes (LL, LS, and SS) were found in the Hanwoo steer population. The association analysis showed significant associations between genotypes and several carcass traits, including traits related to intramuscular fat content, such as meat quality, marbling score, and backfat thickness (p<0.05). Animals harboring the SS genotype showed not only higher levels of intramuscular fat content but also lower levels of backfat thickness than animals harboring the LL and LS genotypes. On the other hand, no significant associations were found between the GALM genotypes and carcass weight, eye muscle area, meat color, or fat color (p>0.05). Deleting the 14-bp segment in the 3'-UTR resulted in the modification of the secondary structure of RNA and appeared to affect gene expression by interfering with the binding ability of GALM mRNA with RNA-binding proteins and microRNAs. These results suggest that the 14-bp InDel polymorphism in the 3'-UTR region of the GALM gene affects cattle growth traits and carcass quality through galactose metabolism-mediated fat accumulation in muscle and backfat tissues.