• Journal of Nutrition and Health
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• v.41 no.8
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• pp.767-775
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• 2008

Uncoupling protein-1 (UCP-1) plays a major role in thermogenesis at brown adipose tissues and has been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of A-3826G polymorphism in 117 Korean prepubertal children aged 8-11 years olds. Anthropometry by bioelectrical impedance analysis method, plasma lipid profiles by auto-biochemical analyzer and UCP-1 genotyping by PCR-RFLP were done. The frequencies of UCP-1 genotypes were AA; 17.7%, AG; 57.8%, GG; 26.6%. The frequencies of each G allele (55.5%) was similar to Japanese's (49%) and higher than Caucacian's (25%). No correlation UCP-1 polymorphism and BMI (kg/$m^2$) or the degree of obesity described by the relative percentiles of the standard weight according to height in prepubertal children. However, plasma total- and LDL-cholesterol were significantly increased in G allele when sex, age and weight were adjusted. Our results suggested that G allele of UCP-1 gene was stronger risk factors in hyperLDLcholesterolemia than A allele. This impact might be progressed as the precaution against the revalence of obesity based-metabolic disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.5
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• pp.455-469
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• 2021

Purpose: The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity. Methods: Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD. Results: Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (p<0.05). Children with NAFLD had higher percentage of PNPLA3 GG genotype at 70.2% versus 31.0% in non-NAFLD, and lower MBOAT7 TT genotype at 4.8% versus 16.7% in non-NAFLD (p<0.05). PNPLA3 rs738409 C>G had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. Conclusion: In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.

• Journal of Life Science
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• v.15 no.6 s.73
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• pp.972-978
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• 2005

The present study was carried out to investigate the blood markers of Jeju horses. The redcell cypes (blood groups) and blood protein types (biochemical polymorphisms) were tested from 102 Jeju horses by serological and electrophoretc procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were $A^{af}\;(27.45\%$), $C^{a}\;(99.02\%$), $K^{-}\;(97.06\%$), $U^{a}\;(62.75\%$), $P^{b}\;(36.27\%$), $Q^{c}\;(47.06\%$), $D^{cgm/dghm}\;(13.73\%$), $D^{adn/cgm}\;(9.80\%$), $D^{ad/cgm}$\;(8.82\%$), $D^{dghm/dghm}(7.84\%$), $D^{cgm/cgm}(7.84\%$), $AL^{B}\;(48.04\%$), $GC^{F}\;(99.02\%$), $AlB^{K}\;(97.06\%$), $ES^{FI}\;(36.27\%$), $TF^{F2}\;(25.49\%$), $HB^{B1}\;(45.10\%$), and $PGD^{F}\;(86.27\%$) in Jeju horses, respectively. Alleles observed with high gene frequency were $A^{af}$ (0.3726), $A^{C}$ (0.2647), $C^{-}$ (0.5050), $K^{-}$ (0.9853), $U^{-}$ (0.6863), $P^{b}$ (0.4657), $Q^{c}$ (0.5294), $D^{cgm}$ (0.3039), $HB^{B1}$(0.6863), $PGD^{F}$ (0.9265), $AL^{B}$ (0.6912), $ALB^{K}$ (0.9852), $GC^{F}$ (0.9950), $ES^{I}$ (0.5000) and $TF^{F2}$ (0.4950) in Jeju horses, and sfecific alleles, $D^{cgm(f)}$ (0.0196), $HB^{A}$ (0.0147), $HB^{A2}$ (0.0196), $ES^{G}$ (0.0441), $ES^{H}$ (0.0098), $TF^{E}$TF'(0.0246), $TF^{H2}$ (0.0049) and $PGD^{D}$ (0.0098) were detected in Jeju horses. These preliminary results present basic information for detecting the genetic markers in Jeju horse. and developing a system for parentage verification and individuals identification in jeju horses.

• Korean Journal of Clinical Laboratory Science
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• v.54 no.4
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• pp.316-324
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• 2022

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms. Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

• The Korean Journal of Mycology
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• v.26 no.2 s.85
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• pp.173-181
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• 1998

To identify genetic difference of 13 strains in three Pleurotus species, analyses of rDNA, AP-PCR and RFLP were carried out. IGRI and $ITSI{\sim}II$ regions of rDNA amplified by PCR were about 0.9 and 0.7 kb, respectively. These PCR products were digested with six restriction enzymes to analyse polymorphism. Especially, treatment of HaeIII enzyme on $ITSI{\sim}II$ regions showed specific bands in three Pleurotus sajor-caju strains. Genetic differences among three species were classified by similarity analyses based on rDNA polymorphism. Various band patterns of $2,500{\sim}150\;bp$ were showed by AP-PCR. Identification of species and varieties in 13 Pleurotus strains was possible according to primers used in AP-PCR. In order to develop genetic markers, RFLPs using IGRI and $ITSI{\sim}II$ probes derived from ASI 2180 and 2070 were carried out on eight Pleurotus varieties. RFLP patterns using IGRI probe were more various than that of $ITSI{\sim}II$ probe.

• Proceedings of the Korean Society of Plant Pathology Conference
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• 2003.10a
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• pp.120.2-120
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• 2003

Agrobacterium vitis is a causal agent of crown-gall disease on grapevine. In Korea, grapevine variety (GeoBong) have severely been infected by the bacteria since stems of the variety were buried in soil for overwintering. Infection ratio over 70-80％ was observed on 7 years old GeoBong grapevine in Ansung and Cheonan. PCR specific primers for A. vitis strains were designed using nucleotide sequences of vir A gene in Ti-Plasmid, pheA gene in chromosomal DNA and a URP-PCR polymorphic band. Three hundred bacterial strains were isolated from the different 80 galls formed on GeoBong grapevine in Cheonan and Ansung of Korea and were screened to identify A. vitis using the three specific PCR primers for Agrobacterium vitis. Twenty-four bacterial strains that are detected by the primers were further confirmed by pathogenicity and biochemical methods. To investigate the genomic diversity of the bacterial strains, twenty primers of 20 mer referred to universal rice primers (URP) were applied for PCR fingerprinting, Of them, URP2R and URP2F primers could effectively be used to detect polymorphism within the bacterial strains.

• Genomics & Informatics
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• v.12 no.1
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• pp.35-41
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• 2014

Single-nucleotide polymorphisms (SNPs) have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiological pathways. We identified ethnicity-specific SNPs by eliminating overlapped SNPs from HapMap samples, and the ethnicity-specific SNPs were mapped to the UCSC RefGene lists. Ethnicity-specific genes were identified as follows: 22 genes in the USA (CEU) individuals, 25 genes in the Japanese (JPT) individuals, and 332 genes in the African (YRI) individuals. To analyze the biologically functional implications for ethnicity-specific SNPs, we focused on constructing a semantic network model. Entities for the network represented by "Gene," "Pathway," "Disease," "Chemical," "Drug," "ClinicalTrials," "SNP," and relationships between entity-entity were obtained through curation. Our semantic modeling for ethnicity-specific SNPs showed interesting results in the three categories, including three diseases ("AIDS-associated nephropathy," "Hypertension," and "Pelvic infection"), one drug ("Methylphenidate"), and five pathways ("Hemostasis," "Systemic lupus erythematosus," "Prostate cancer," "Hepatitis C virus," and "Rheumatoid arthritis"). We found ethnicity-specific genes using the semantic modeling, and the majority of our findings was consistent with the previous studies - that an understanding of genetic variability explained ethnicity-specific disparities.

• Biomedical Science Letters
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• v.19 no.3
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• pp.213-223
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• 2013

The objectives of this study are to develop a molecular diagnosis to differentiate serotypes and mating-types of C. neoformans/C. gattii complex isolates from pigeon droppings in Korea and to elucidate molecular epidemiology of the isolates. Phenotypes and genotypes of C. neoformans/C. gattii complex isolates were identified by biochemical properties and PCR using specific CNLAC1 gene, respectively. To classify serotypes and mating-types of C. neoformans/C. gattii complex isolates, the five reference strains and thirty-three isolates in Korea were investigated by restriction fragment length polymorphism (RFLP) analysis using CNLAC1 gene for varieties, by random amplified polymorphic DNA (RAPD) for serotyping, and by PCR using specific primer sets for mating typing. All isolates in Korea were belonged to C. neoformans var. grubii (serotype A) by RFLP and RAPD patterns which showed high sensitivity and specificity. Therefore, RFLP and RFLP were available to differentiate varieties and serotypes of C. neoformans. Amplification patterns of the five reference strains by specific PCR for mating typing were differentiable, and all isolates were classified into $MAT{\alpha}$. All C. neoformans environmental isolates in Korea were Cr. neoformans serotype A and $MAT{\alpha}$ which is a more virulent pathogen. This study suggests that RFLP and RAPD are rapid and correct molecular diagnosis tools for epidemiology of C. neoformans/C. gattii complex isolates.

• The Plant Pathology Journal
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• v.30 no.2
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• pp.117-124
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• 2014

The plant pathogenic bacterial genus Pectobacteirum consists of heterogeneous strains. The P. carotovorum species is a complex strain showing divergent characteristics, and a new subspecies named P. carotovorum subsp. brasiliensis has been identified recently. In this paper, we re-identified the P. carotovorum subsp. brasiliensis isolates from those classified under the subspecies carotovorum and newly isolated P. carotovorum subsp. brasiliensis strains. All isolates were able to produce plant cell-wall degrading enzymes such as pectate lyase, polygalacturonase, cellulase and protease. We used genetic and biochemical methods to examine the diversity of P. carotovorum subsp. brasiliensis isolates, and found genetic diversity within the brasiliensis subsp. isolates in Korea. The restriction fragment length polymorphism analysis based on the recA gene revealed a unique pattern for the brasiliensis subspecies. The Korean brasiliensis subsp. isolates were divided into four clades based on pulsed-field gel electrophoresis. However, correlations between clades and isolated hosts or year could not be found, suggesting that diverse brasiliensis subsp. isolates existed.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.46 no.4
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• pp.341-343
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• 2001

Molecular markers have become fundamental tools for crop genome study. The objective of this study was to construct a genetic linkage map for cowpea with PCR-based molecular markers. Five hundred and twenty random RAPD primers were screened for parental polymorphism. Ninety RAPD markers from sixty primers was segregated in 75 F2 mapping population derived from the cross of local cultivars GSC01 and GSC02. 70 RAPD markers were found to be genetically linked and formed 11 linkage groups. Linkage map spanned 474.1 cM across all 11 linkage groups. There are six linkage groups of 40 cM or more, and five smaller linkage groups range from 4.9 to 24.8 cM. The average linkage distance between pairs of markers among all linkage groups was 6.87 cM. The number of markers per linkage group ranged from 2 to 32. The longest group 1 spans 190.6 cM, while the length of shortest group 11 is 4.9 cM. This map is further needed to be saturated with the various markers such as RFLP, AFLP, SSR and more various populations and primers. In addition, morphological markers and biochemical markers should be united to construct a comprehensive linkage map.