• BMB Reports
• /
• v.29 no.1
• /
• pp.45-51
• /
• 1996

Most expressed HLA loci exhibit a remarkable degree of allelic polymorphism, which derives from sequence differences predominantly localized to discrete hypervariable regions of the amino-terminal domain of the molecule. In this study, the HLA-DRB1 genotypes were determined in eighteen control cell lines and 112 unrelated Koreans using the PCR-SSP (Polymerase Chain Reaction-Sequence Specific Primer) technique. 29 specific primer pairs in assigning the DRB1 gene were used. The results of control cells correlated well with the data which was previously reported. The heterozygosity and homozygosity of the DRB1 gene were 0.786 and 0.214, respectively. In a total of 41 different DRB1 alleles and 83 genotypes, the most frequent allele and genotype were DRB1*04 and DRB1*0901/1501, respectively. This study shows that the PCR-SSP technique is relatively simple, fast and a practical tool for the determination of the HLA-DRBI genotypes. Moreover, these results-allele and genotype frequency and heterozygosity of the HLA DRB1 gene-could be useful for database study before being applied to individual identification and transplantation immunity.

• Korean Journal of Plant Resources
• /
• v.22 no.6
• /
• pp.506-512
• /
• 2009

To study the effect of genotype of donor plants on anther culture, anthers of nine hybrid cultivars (Derby, Special, Bossanova, Minipaprika, Fiesta, Boogie, Phenlene, Kufrah, and Clarity) of sweet pepper (Capsicum annuum L.) were cultured in a petridish containing C medium (Sibi, Dumas De Vaulx medium) supplemented with 0.1 mg/L 2,4-D and 0.1 mg/L kinetin, 3% sucrose and 0.32% Phytagel. The cultures were incubated in the dark at $35^{\circ}C$ for seven days, and then cultured at $25^{\circ}C$ with a photoperiod of 16 hr. daylength for 40 days. Frequency of callus formation and plant regeneration was varied among cultivars. Callus formation was ranged from 6% in Phenlene to 69.8% in Kufrah. The highest percentage of regenerated plantlets was obtained in cv. Phenlene (2.67%) followed by Bossanova (2.41%). Result of ploidy analysis; chromosome number observation and flowcytometry analysis, showed that haploid plants could be developed from all of these hybrid cultivars except cv. Fiesta, where highest percentage of haploid plants were obtained in Minipaprika (40%) followed by cv. Bossanova (36.1%). Haploid plants derived from these hybrid cultivars contained single set of chromosome (12 in numbers), higher stomata density (numbers), and smaller sized stomata as compare to diploid plants. The mean length of stomata was 26.9 ${\mu}m$ in haploid plants and 35.7 ${\mu}m$ in diploids.

• Genomics & Informatics
• /
• v.8 no.3
• /
• pp.116-121
• /
• 2010

The association between adiponectin concentration and obesity have been reported and genetic variations of the ADIPOQ gene are known to influence the plasmatic concentration of adiponectin. Therefore, we investigated the effect of AIPOQ single nucleotide polymorphism (SNP) on obesity-related variables, and their modulation by dietary intakes in Korean women. The subjects consisted of 3,217 Korean women aged 40-59 years participating in the Korean Genome Epidemiology Study (KoGES). The general characteristics, anthropometric variables, serum blood profiles were measured. Dietary intake was analyzed using the Food Frequency Questionnaire. Subjects with the T allele of AIPOQ rs182052 showed significantly higher obesity-related variables such as weight (p=0.005), BMI (p<0.000), fat body mass (p=0.005), and waist-hip ratio (p=0.007) than those with the C allele. Moreover, the rs182052 T allele was associated with an increased risk of obesity prevalence (p=0.019). However, there were not any significant interactions observed between the genotype of ADIPOQ rs182052 and dietary intake on BMI and fat body mass. These findings suggest that the obesity-related variables may be more dominantly affected by the genotype of ADIPOQ rs182052 than dietary intake in middle aged Korean women.

• Parasites, Hosts and Diseases
• /
• v.40 no.4
• /
• pp.165-172
• /
• 2002

Collaborative studies have identified some genetic factors contributing to the development of severe forms of malaria and schistosomiasis. In Thailand, the $TNF-{\alpha}{\;}5'-flanking$ region shows biallelic polymorphic sites at nucleotides -238, -308, -857, -863, and -1031, and seven alleles have been identified in patients from Myanmar. We found that the TNF promoter (TNFP)-D allele was significantly associated with cerebral malaria in populations from Karen (P < 0.0001. OR ＝ 124.86) and ethnic Burma (P < 0.0001, OR = 34.50) . In China, we have identified two major genes related to the severity of liver fibrosis, one an HLA class II gene, and the other the IL-13 gene. The frequency of the HLA- DRB5*0101 allele and that of the IL-13 promoter A/A (IL- l3P- A/A) genotype were elevated in fibrotic patients, although the two genes are located on different chromosomes, chromosomes 6p and 5q, respectively Subjects with both genotypes had odds ratios (OR = 24.5) much higher than the sum of the ratios for each individual genotype (OR ＝ 5.1,95% Confidence Interval 1.3-24.7 for HLA-DRB5*0101, OR ＝ 3.1 95% CI 1.5 - 6.5 for IL-l3P-A/A). That the effects of the two susceptibility markers are synergistic rather than additive, strongly suggests that the pathogenic Th2 response directly influences the prognosis of post-schistosomal liver fibrosis.

• Proceedings of the Korean Society of Crop Science Conference
• /
• 2022.10a
• /
• pp.17-17
• /
• 2022

Leaves are an important organism for photosynthesis and transpiration. The shape of leaf is crucial factor affecting plant architecture. V-shape leaf rolling is enhancing canopy photosynthesis by increasing the CO₂ penetration and the light capture by reducing the shadow between the leaves. Therefore, moderate leaf rolling is thought to more high grain yield per area than flat leaf. We investigated 278 KRICE_CORE accession's Adaxial Leaf Rolling Index (LRI) in first heading using the following equation. For each accession, genomic DNA was used for sequencing. We sequenced the genomics with ~8 X coverage to detect SNPS. Raw reads were aligned against the rice reference (IRGSP 1.0) for SNP identification and genotype calling. To generate genotype data for GWAS, SNPs were filtered with minor allele frequency 0.05. Finally, 841,134 high-quality SNPs were used for our GWAS. The significant threshold was -log10(P)>7.23. From the results, 2 significance SNP were detected. Considering the LD block of 250kbp, 60 candidate gene were selected including Hypothetical gene and Conserved gene. In this poster, we analyzed candidate gene affecting adaxial Leaf Rolling through single-trait GWAS.

• Proceedings of the Korean Society of Crop Science Conference
• /
• 2022.10a
• /
• pp.243-243
• /
• 2022

Leaves are an important organism for photosynthesis and transpiration. The shape of leaf is crucial factor affecting plant architecture. V-shape leaf rolling is enhancing canopy photosynthesis by increasing the CO₂ penetration and the light capture by reducing the shadow between the leaves. Therefore, moderate leaf rolling is thought to more high grain yield per area than flat leaf. We investigated 278 KRICE CORE accession's Adaxial Leaf Rolling Index (LRI) in first heading using the following equation. For each accession, genomic DNA was used for sequencing. We sequenced the genomics with ~8 X coverage to detect SNPS. Raw reads were aligned against the rice reference (IRGSP 1.0) for SNP identification and genotype calling. To generate genotype data for GWAS, SNPs were filtered with minor allele frequency 0.05. Finally, 841,134 high-quality SNPs were used for our GWAS. The significant threshold was -log10(P) >7.23. From the results, 2 significance SNP were detected. Considering the LD block of 250kbp, 60 candidate gene were selected including Hypothetical gene and Conserved gene. In this poster, we analyzed candidate gene affecting adaxial Leaf Rolling through single-trait GWAS.

• Journal of Animal Science and Technology
• /
• v.54 no.1
• /
• pp.1-8
• /
• 2012

This study aimed to investigate the single nucleotide polymorphisms (SNPs) of the porcine MC4R gene and validate the effect of the MC4R genotype for marker assisted selection (MAS). Six amplicons were produced to analyze the entire base sequences of the porcine MC4R gene and six SNPs were detected (c.-780C>G, c.-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His, c.892A>G-Asp298Asn, and c.*430A>T). Linkage disequilibrium (LD) of the six SNPs was analyzed by performing haploid analysis. There was a perfect linkage disequilibrium in c.-780C>G, c.-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His, and c.*430A>T. Only the c.892A>G (Asp298Asn) SNP showed a very low LD with an $r^2$ value of 0.028 and the D' value of 0.348. As a result, the two SNPs-c.707A>G (Arg236His) and c.892A>G (Asp298Asn)-were selected to extract the genotype frequencies from the 5 pig breeds by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genotype analysis method. The SNP frequency of c.707A>G (Arg236His) indicated the presence of the A (His) allele only in Yorkshire, while the G allele was fixed in the KNP, Landrace, Berkshire, and Duroc. Association analysis was carried out in 484 pigs with the c.707A>G (Arg236His) SNP and the meat quality traits of four different pig cross populations: a significant association was noted in crude fat, sirloin moisture, meat color, and the degree of red and yellow coloration. The frequency of the c.892A>G(Asp298Asn) SNP genotype varied among the breeds; while Duroc showed the highest frequency of the A (Asn) allele, KNP showed the highest frequency of the G (Asp) allele. Association analysis was carried out in 1126 pigs with the c.892A>G (Asp298Asn) SNP and the meat quality traits of four pig populations: a highly significant linkage was noted in the back-fat thickness (P<0.002). It was found that the back-fat thickness was higher in individuals with the AA genotype than in those with the AG or GG genotype. Thus, in this study, we verified that the c.892A>G (Asp298Asn) SNP in the pig MC4R gene has a sufficient effect as a gene marker for MAS in Korean pork industry.

• Asian-Australasian Journal of Animal Sciences
• /
• v.21 no.7
• /
• pp.936-940
• /
• 2008

The PCR-amplified prion protein (PrP) gene was sequenced to determine the frequency of scrapie-associated as well as novel PrP genotypes in 72 healthy goats representing five breeds. A total of six genotypes were detected, resulting from the three reported 143 (H/R), 154 (R/H) and 240 (S/P) and the two novel 39 (S/R) and 185 (I/F) amino acid polymorphisms. Of the four silent mutations 42 (a$\rightarrow$g), 138 (c$\rightarrow$t), 231 (c$\rightarrow$a) and 237 (g$\rightarrow$c) detected in this study, 237 (g$\rightarrow$c) is novel. A genotype (SIP/RFP) harboring three amino acid polymorphisms 39 (S/R), 185 (I/F) and 240 (S/P) was found in few goats. Although both scrapie-associated genotypes with 143 (H/R) and 154 (R/H) polymorphisms and others with 39 (S/R), 185 (I/F) and 240 (S/P) polymorphisms were present in the studied Pakistani goats, their frequency was lower than that of the wild-type genotype SHRIS/SHRIS (34.7%). These results emphasize the need for further sequencing of the PrP gene in a large number of goats representing the five studied breeds, so that overall PrP variability can be assessed in these breeds in research addressing future concerns about scrapie.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.11
• /
• pp.5647-5652
• /
• 2012

The glutathione S-transferases (GSTs) are involved in the metabolism of many xenobiotics, including an array of environmental carcinogens, pollutants, and drugs. Genetic polymorphisms in these genes may lead to inter-individual variation in susceptibility to various diseases. In the present study, GSTM1 and GSTT1 polymorphisms were analysed using a multiplex polymerase chain reaction in 500 normal individuals from Delhi. The frequency of individuals with GSTM1 and GSTT1 null genotypes were 168 (33.6%) and 62 (12.4%) respectively, and 54(10.8%) were having homozygous null genotype for both the genes GSTM1 and GSTT1simultaneously. The studied population was compared with reported frequencies from other neighbouring state populations, as well as with those from other ethnic groups; Europeans, Blacks, and Asians. The prevalence of homozygous null GSTM1 genotype is significantly higher in Caucasians and Asians as compared to Indian population. The frequency of GSTT1 homozygous null genotypes is also significantly higher in blacks and Asians. We believe that due to large number of individuals in this study, our results are reliable estimates of the frequencies of the GSTM1, GSTT1 in Delhi. It would provide a basic database for future clinical and genetic studies pertaining to susceptibility and inconsistency in the response and/or toxicity to drugs known to be the substrates for GSTs.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.2
• /
• pp.511-516
• /
• 2012

Background: We investigated the association between polymorphisms in the $p53$ tumor suppressor gene and breast cancer risk in women especially in the Southern part of India. Methods: Genotyping was performed for 50 breast cancer women and 50 controls to determine the status of $p53$ exon 4 codon 72 polymorphism and exon 7 codon 249 mutation and their possible role in breast cancer risk. Results: Frequency of Arg/Arg at codon 72 was 18% in controls and 28% in patients, Arg/Pro frequency was 56% and 66%, Pro/Pro genotype was 8% in controls and 8% in patients. No significance was observed for breast cancer risk with either Arg/Arg or Pro/Pro genotype in codon 72 polymorphism. Similarly, mutation analysis of exon 7 codon 249 revealed that 72% of breast cancer patients have mutation, which is not statistically significant. However, there is a strong association between increase in exon 7 codon 249 mutation and exposure to pollution. Conclusion: The results suggested that there is no risk for exon 4 with Arg/Arg or Pro/Pro polymorphisms in the $p53$ gene and there is no strong correlation between breast cancer patients and mutation in exon 7 codon 249 in South Indian women.