• Journal of Life Science
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• v.26 no.11
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• pp.1232-1236
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• 2016

Mitochondrial calcium uptake 1 (MICU1) including two canonical EF hands, located in the mitochondrial inner membrane, is known to play a crucial role in the calcium uptake in mitochondria. Mitochondrial calcium uptake in muscular cells is related to post mortem shortening by calcium release from muscles. Therefore, the porcine MICU1 gene has been estimated as a genetic candidate for meat quality traits. In this study, variations on the exonic regions of the porcine MICU1 gene were investigated by sequencing cDNAs and tested for their association with meat quality traits. A total of 667 Berkshire heads (347 sows and 320 castrated boars) were used for this association test. Three SNPs were detected on the 3' untranslated region (UTR) of the porcine MICU1 gene. SNP1 (c.*136G>A) was associated with drip loss (p=0.017) and intramuscular fat content (p=0.039). In addition, SNP2 (c.*222G>A) and SNP3 (c.*485G>A) were associated with drip loss (p=0.018) and intramuscular fat content (p<0.001), respectively. In conclusion, it was verified that three variations on the 3' UTR of the porcine MICU1 gene were significantly associated with meat quality traits. It was also suggested that molecular biological analyses are needed to validate the function of variations on the 3 UTR of the porcine MICU1 gene.

• Korean Journal of Poultry Science
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• v.41 no.1
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• pp.7-14
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• 2014

Tyrosinase (TYR) gene is located on chromosome 1 in chicken and it is composed of five exons and four introns. TYR gene is described as a key enzyme in melanin biosynthesis. Most examples of complete albinism in chicken have been due to defects in the tyrosinase gene. The association of feather color and sequence polymorphism in the Tyrosinase (TYR) gene was investigated using Korean Native chicken H breed (H_PL), Korean Native chicken L/W breed(L/W_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). From L_PL and W_PL breed analyses, 4 synonymous SNPs (locus G33A, G116A, C217T and C247T) and 2 SNPs (G838A and G958A) were detected in 4th exon and 4th intron of TYR gene respectively. The genotype frequencies for 6 SNPs were compared between L_PL and W_PL and W_PL represented homozygous SNP types in all the analyzed SNP positions while L_PL displayed various SNP types.

• Journal of Preventive Medicine and Public Health
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• v.31 no.1 s.60
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• pp.15-26
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• 1998

p53 is the most frequently mutated gene in female breast cancer tissues and the prognosis of breast cancer could be changed by mutation of the gene. This study was performed to examine risk factors for breast cancer subtypes classified by p53 mutation and to investigate the roles of p53 gene mutation in carcinogenesis of breast cancer. The study subjects were 81 breast cancer patients and 121 controls who were matched to cases 1:1 or 1:2 age, residence, education level and menopausal status. All the subjects were interviewed by a well-trained nurse with standardized questionnaire on reproductive factors, and wire asked to fill the self-administrative food frequency questionnaire. p53 gene mutation in the cancer tissue was screened using polymerase chain reaction (PCR)-single strand conformational polymorphism (SSCP) method. Mutation type was identified by direct sequencing of the exon of which mobility shift was observed in SSCP analysis. Mutations were detected in p53 gene of 25 breast cancer tissues. By direct sequencing, base substitutions were found in 20 cancer tissues (10 transition and 10 transversion), and frame shift mutations in 5 (4 insertions and 1 deletion). For the whole cases and controls, risk of breast cancer incidence decreased when the parity increased, and increased when intake amount of total calory, fat, or protein increased. Eat and protein were statistically significant risk factors for breast cancer with p53 mutation. For breast cancer without p53 mutation, protein intake was the only significant dietary factor. These results suggest that causes of p53 positive breast lancer would be different from those of p53 negative cancer, and that dietary factors or related hormonal factors induce mutation of p53, which may be the first step of breast cancer development or a promoter following some unidentified genetic mutations.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.51 no.3
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• pp.239-247
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• 2006

This study was carried out to investigate polymorphism, gene diversity, and geographical relationships of 81 Korean wild (Glycine soja) and 130 cultivated soybeans (G. max) using seven simple sequence repeat (SSR) markers. A total of 144 alleles were observed in 211 accessions with an average of 20.6. Each SSR loci showed 13 (Satt532) to 41 (Sat_074) multialleles. The range of alleles within the loci was wider in wild soybean than the cultivated soybeans. The average genetic diversity values were 0.88 and 0.69 in wild and cultivated soybeans, respectively. In a scatter diagram of wild and cultivated soybeans based on canonical discriminant analysis, CAN1 accounted for 84.2% while CAN2 did 8.5%. Two species were grouped into three: group I (G. max), group II (G. soja), and group III (complex of G. max and G. soja). The geographical relationships of wild soybean were distinguished into two groups: Gyeonggi for Group I, and Gyeongsang, Jeolla, Gangwon, and Chungcheong for Group II. Those of cultivated soybeans were distinguished into Gyeonggi, Gangwon, and Gyeongsang for Group I, and Jeolla and Chungcheong for Group II. Therefore, the geographical relationships of wild soybeans were well typified based on the ecosystems of the Korean peninsula.

• Korean Journal of Food Science and Technology
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• v.50 no.5
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• pp.480-485
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• 2018

In this study, to identify single nucleotide polymorphisms (SNPs) associated with meat quality in Berkshire pigs, we performed RNA sequencing. A non-synonymous SNP (nsSNP) in the Complement component 9 (C9) gene was identified, and the association between meat quality traits and the C9 genotype was analyzed. The nsSNP in the C9 gene was located at c.942 G>T. In the dominant model, significant associations were observed between the SNP and meat quality traits such as CIE L, collagen content, moisture level, and $pH_{24h}$, whereas in the co-dominant model, significant associations were observed between the SNP and CIE L, collagen content, and protein content. In the recessive model, a significant association between the C9 genotype and the collagen content was observed. In addition, we identified the significant relationship between the C9 genotype and meat quality according to sex. These results indicate that the C9 SNP can be used as a genetic marker for improving pork quality.

• Journal of Animal Science and Technology
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• v.45 no.2
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• pp.191-198
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• 2003

This study was carried out to investigate a usefulness of the microsatellite DNA markers for individual identification and parentage verification in three dog breeds. A total of 59 random dog (31 Chiwawa, 20 Poongsan, 8 Labrador Retriever) samples were genotyped by using 14 markers (Chiwawa dog), 16 markers (Poongsan dog), and 12 markers (Labrador Retriever dog) among the 17 international standard markers (PEZ1, 3, 5, 6, 8, 10, 11, 12, 13, 15, 16, 17, 20, 21, FHC2010, FHC2054 and FHC2079), respectively. The number of alleles per locus varied from 4 to 14 with a mean value of 6.07 in Chiwawa dog, 2 to 9 with a mean of 4.75 in Poongsan dog, and 3 to 5 with a mean of 4.00 in Labrador Retriever dog. Observed heterozygosity was ranged 0.419${\sim}$0.968 (mean 0.755), 0.300${\sim}$0.950 (mean 0.597) and 0.125${\sim}$0.750 (mean 0.604), and expected heterozygosity was ranged 0.432${\sim}$0.883 (mean 0.711), 0.262${\sim}$0.817 (mean 0.559) and 0.425${\sim}$0.808 (mean 0.660) in these three dog breeds. PIC value was ranged 0.397${\sim}$0.856 (mean 0.659), 0.222${\sim}$0.772 (mean 0.503) and 0.354${\sim}$0.717 (mean 0.563) in these three dog breeds. Of the 17 markers, PEZ1, PEZ3, PEZ6, PEZ10, PEZ12 loci, PEZ1, PEZ6, PEZ13 loci, and PEZ8, PEZ12 loci have relatively high PIC value (＞0.7) in Chiwawa dog, Poongsan dog and Labrador Retriever dog, respectively. The exclusion probability was ranged 0.240${\sim}$0.741, 0.111${\sim}$0.616, and 0.198${\sim}$0.529, and the combination of microsatellite loci was 0.9999, 0.9991, and 0.9968 in Chiwawa dog, Poongsan dog and Labrador Retriever dog, respectively. These results can give basic information for developing parentage verification and individual identification system in these three dog breeds.

• Journal of Nutrition and Health
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• v.31 no.9
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• pp.1411-1421
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• 1998

The purpose of this study was to investigate the effects of apo E polymorphisms and dietary counseling on the levels of plasma lipids in hyperlipidemic patients. The changes of serum lipids were assessed f3r 34 hyperlipidemic out-patients who changed their basal diet containing 20.1% fat(236.0mg cholesterol/day), 15.7% protein, and 64.2% carbohydrate to a diet containing 18.3% fat(109.8mg cholesterol/day), 15.7% protein, and 66.0% carbohydrate for 12 weeks. At the beginning of this study, the levels of plasma LDL-cholesterol were high according to apo E genotypes in the following order : E2/3

• Korean Journal of Plant Taxonomy
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• v.41 no.1
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• pp.66-80
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• 2011

This study investigated the environmental factors and conducted a RAPD analysis for a better understanding of the environmental characteristics and regional genetic variation in samples from 18 different areas of Viola diamantiaca. The habitats are mostly located on the slopes of mountains facing north at an altitude ranging from 614 m to 1,462 m above sea level with angles of inclination ranging from 3 degrees to 30 degrees. A total of 268 vascular plant taxa are identified in 35 quadrates of 18 habitats. The importance value of V. diamantiaca is 11.58%, and four highly ranked species, Sasa borealis (5.61%), Meehania urticifolia (5.21%), Ainsliaea acerifolia (3.62%), Pseudostellaria palibiniana (3.60%) are considered to have an affinity with V. diamantiaca in their habitats. The degree of their average species diversity is 1.36, while this metric for their evenness and dominance are 0.89 and 0.07, respectively. The average field capacity of the soil is 25.99%, with organic matter at 17.47%, and the pH is 5.19. The soil texture was confirmed as sandy loam of eleven and loam of seven. The result of the RAPD analysis, among 78 bands amplified with a primer, 64 (84.6%) showed polymorphism. Eighteen populations could be classified into five groups with similarity coefficient values ranging from 0.53 to 0.86. The Mt. Jiri population, which is geographically segregated, shows basal branching within the 18 populations. Five populations, including two in the southern district in Gangwon-do and three in Chungcheongbuk-do, form a distinct clade. Four populations in the central district of Gangwon-do and Mt. Bohyeon in the Gyeongsangbuk-do clade form a sister to the clade containing two populations in Gyeonggi-do and five populations of the northern district in Gangwon-do. The Mt. Gariwang population is placed between the southern district and the central district in the Gangwon-do clades.

• Genomics & Informatics
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• v.16 no.2
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

• Journal of Life Science
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• v.19 no.9
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• pp.1328-1332
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• 2009

Anisakidosis is caused by anisakid nematodes (family Anisakidae) larvae which can cause not only direct tissue damage but also a severe allergic response related to excretory-secretion products. Lots of different species of anisakid larvae, including Anisakis simplex, Contracaecum, Goezia, Pseudoterranova, and Hysterothylacium, cause the anisakidosis. But it is difficult to diagnosis the species of larvae since the morphologies of larval anisakid nematodes are almost indistinguishable. In order to diagnosis the differential infections of larval anisakid nematodes, polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) of 18S rDNA - was conducted. Three major species of anisakid larvae including A. simplex, C.ontracaecum spp, and Goezia spp. were collected from mackerel (Scomber japonicus), mullet (Mugil cephalus), founder (Paralichthys olivaceus), eel (Astroconger myriaster) and red sea bream (Pagrus major). PCR amplified 18S rDNA from each species of anisakid larvae was digested with eight restriction enzymes including Taq I, Hinf I, Hha I, Alu I, Dde I, Hae III, Sau96 I, and Sau3A I. The original sizes of PCR amplified 18S rDNA were 2.0Kb in both anisakid larvaes and Goezia. Restrction enzymes including Hinf 1, Alu 1, Hha I, Dde 1 and Hae III cut differently and distinguished the A. simplex and Contracaecum type C'. However, Contracaecum type A showed two different restriction enzyme cutting patterns by Taq 1, Hinf I, Alu 1, and Dde 1. One of the patterns was the same as those of A. simplex, Contracaecum type C' and Goezia and the other was unique. These results suggest that PCR-RFLP pattern by Hinf 1, Alu 1, Hae I, Dde 1 and Hae III can be applied to differential diagnosis of human infection with A. simplex and Contracaecum type C'. Contracaecum type A needs further study of classification by morphological characteristics and genetic analysis.