• IMMUNE NETWORK
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• v.7 no.3
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• pp.149-157
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• 2007

Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Korean Journal of Plant Resources
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• v.25 no.5
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• pp.517-522
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• 2012

This study was conducted to investigate the morphological and anatomical characteristics of needle and the genetic diversity of Pinus pumila Regel which is a unique and the southern peripheral population in South Korea. ANOVA test showed that there were significant differences among individuals within population in all 8 needle characteristics. Average characteristics of 66 individuals were 53.59 mm in needle length, 0.78 mm in needle width, 68.98 in needle index, 0.65 mm in needle thickness, 4.56 ea. in maximum stomata row, 3.80 ea. in minimum stomata row, 8.36 ea. in total stomata row and 1.71 ea. in resin canals, respectively. Resin canal per needle of this species ranged from one to three, depending on external type. Especially, arrangement types were 69.47% in two resin canals and 30.45% in a single resin canal. A total of 78 bands was generated from 9 selected I-SSR primers. The estimates of genetic variation were 61.5% in proportion of polymorphic bands (P), 1.698 in effective number of alleles ($A_e$), 0.388 in expected heterozygosity ($H_e$) and 0.567 in Shannon's information index (S.I.), respectively.

• Journal of Korean Society of Forest Science
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• v.103 no.1
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• pp.59-64
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• 2014

This study describes analysis of genetic diversity and spatial genetic structure of Korean poplar (Populus koreana Rehder) in Mt. Odae using I-SSR markers. P. koreana is a deciduous broad-leaved tree species that primarily grows in the alpine valleys of China, Russia and North Korea. In South Korea, P. koreana is found limitedly in Gangwon province. Especially, the population in Mt. Odae is located on the southern limit line, its importance is emphasized from the genetic resource conservation perspective. The Shannon's diversity (I=0.230) and the expected heterozygosity (He=0.151) were relatively low as compared with those of other plant species. Spatial autocorrelation analysis using Tanimoto's distance showed that the genetic patch was founded within 400 m. It is suggested that individual trees for ex situ conservation should be sampled with a minimum distance of 400 m between trees.

• Journal of Korean Society of Forest Science
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• v.103 no.1
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• pp.51-58
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• 2014

Genetic diversity and genetic structures were estimated in seven natural populations of Phellodendron amurense Rupr in South Korea using ISSR markers. The average of polymorphic loci per primer and the proportion of polymorphic loci per population were 4.5 and 78.8% respectively with total 27 polymorphic loci from 6 ISSR primers. The Shannon's diversity index(I) was 0.421 and the expected heterozygosity($H_e$) was 0.285, which was similar to the heterozygosity (hs =0.287) inferred by Bayesian method. In AMOVA, 7.6% of total genetic variation in the populations was resulted from the genetic difference among populations and the other 92.4% was resulted from the difference among individuals within populations. Genetic differentiation(${\theta}^{II}$) and inbreeding coefficient(f) for total population were estimated to be 0.066 and 0.479 by Bayesian method respectively. In Bayesian clustering analysis, seven populations were assigned into three groups. This result was similar to the results of genetic relationships by UPGMA and PCA. The first group included Hwachoen, Gapyeong, Bongpyeong and Yongpyeong population, and the second included two populations in Sancheong region. Muju population was discretely assigned into the third group in spite of the geographically short distance from the Sancheong region. There was no significant correlation between genetic relationship and geographic distribution among populations in Mantel's test. For conservation of the phellodendron trees, it would be effective to consider the findings resulted from this study with ecological traits and life histories of this species.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

• Korean Journal of Psychosomatic Medicine
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• v.24 no.1
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• pp.94-101
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• 2016

Objectives : Anemia is a common problem in the management of elderly patients. Recent studies reported that anemia was associated with cognitive impairment and Alzheimer's disease. This study was aimed to analyze the differences of hemoglobin levels in Korean patients with Alzheimer's disease(AD) dementia, mild cognitive impairment(MCI), and healthy controls. Furthermore, the study also examined if any association between hemoglobin levels and cognitive functions existed. Methods : A total of 116 Korean elderly adults were participated in this study(mean age 74.67 years ; 60.3% female). The Korean version of the Mini-Mental State Examination(MMSE-K), Clinical Dementia Rating(CDR) and Global Deterioration Scale(GDS) were applied to all subjects. Hematological and related blood chemistry values were investigated. Results : We found that patients with AD dementia had significantly lower hemoglobin and hematocrit levels than MCI subjects and healthy control group. The hemoglobin levels showed a positive correlation with MMSE-K and negative correlation with CDR, GDS. Conclusions : Among Korean elderly, low hemoglobin level is associated with a cognitive impairment. This study indicates that AD is associated with anemia, and low hemoglobin levels may contribute to potentially useful clinical markers of AD. The risk factor for dementia needs to be confirmed by prospective longitudinal studies in a larger group of patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.48 no.3
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• pp.291-301
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• 2021

The aim of this study is to compare the properties of odontoblast gene of early passage cells and late passage cells derived from impacted maxillary supernumerary teeth. Impacted supernumerary teeth with maxilla were extracted from 12 patients (8 males, 4 females) between 6 - 9 years old without medical history. Real-time polymerase chain reaction (PCR) was conducted to compare characterization of odontoblast cell in the 3rd and 10th passage, and between with bone inducing additive group and without additive group. Genes for odontoblasts characteristics are osteonectin (ONT), alkaline phosphatase (ALP), osteocalcin (OCN), dentin matrix protein 1 (DMP-1) and dentin sialophosphoprotein (DSPP). The level of gene expression was in a decreasing order of ONT, ALP, OCN, DMP-1 and DSPP in the 3rd passage, and in decreasing order of ONT, DMP-1, OCN, ALP, and DSPP in the 10th passage in the undifferentiation and differentiation group. The order of ONT, DMP-1, and OCN did not changed. ALP and DMP-1 were switched in order. ALP and DMP-1 may be used as important markers for differentiating between the 3rd passage and 10th passage cells. Considering that supernumerary tooth was extracted young age and the time required to cultured 10th passage was short, supernumerary tooth can be considered a useful donor site of dental pulp stem cells.

• Korean Journal of Food Science and Technology
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• v.53 no.6
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• pp.715-721
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• 2021

Cognitive impairment and Alzheimer's disease are serious social problems associated with the rising elderly population in Korea. 1,2,3,4,6-Penta-O-galloyl-β-ᴅ-glucopyranose (PGG) is a gallotannin isolated from medicinal plants such as Rhus chinensis. This study was performed to evaluate the effect of PGG on biomarkers related to cognitive function in human neuroblastoma SK-N-SH cells. Inhibition of acetylcholinesterase (AChE) activity is considered to be one of the main therapeutic strategies. PGG inhibited AChE activity in the test tube as well as in SK-N-SH cells. In addition, PGG induced protein and mRNA expression of brain-derived neurotrophic factor (BDNF), which is a mammalian neurotrophin that plays major roles in the development, maintenance, repair, and survival of neuronal populations. As one of the underlying molecular mechanisms that induce BDNF expression, PGG induced the activation of Ca²⁺/calmodulin (CaM)-dependent protein kinase II (CaMKII)-cAMP response element binding protein (CREB) pathway. In conclusion, PGG may be an useful material for improving cognitive function.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.1
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• pp.42-49
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• 2019

This study compared the utility of the serum uric acid/creatinine ratio with that of uric acid as a risk predictor of metabolic syndrome. From November 2016 to October 2018, 14,190 adult men under the age of 20 years, who underwent a comprehensive health checkup at a general hospital in their metropolitan area, were included. Metabolic syndrome was assessed according to the American Heart Association/National Heart Lung and Blood Institute (AHA/NHLBI) criteria. Abdominal obesity was based on the WHO criteria in the Western Pacific region. The serum uric acid/creatinine ratio was found to be higher in the fourth quartile than in the first quartile, with a high incidence of metabolic syndrome and metabolic syndrome components. On the other hand, ROC analysis revealed the serum uric acid/creatinine ratio to be a similar indicator of the metabolic syndrome risk to serum uric acid (AUC, 0.554 vs 0.566). The serum uric acid/creatinine ratio showed lower sensitivity and higher specificity than uric acid. In conclusion, the utility of the serum uric acid/creatinine ratio as an independent indicator to predict the risk of metabolic syndrome is limited, and should be used only as an auxiliary marker.