• 한국안광학회지
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• 제13권3호
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• pp.89-94
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• 2008

목적: 본 논문은 소아 및 학동기 그리고 청소년과 부모시력의 유전적 연관성을 보고자 하였다. 방법: 연구 대상자는 4~18세까지의 소아 및 학동기 그리고 청소년기에 속하는 어린이 208명과 피검자의 부모 340명이 참여하였다. 시력측정은 5 m용 한천석식 시력표를 이용하였으며, 각 단안씩 나안 및 교정시력을 측정하였다. 결과: 6세미만의 소아에서 아버지의 시력은 아무런 관련성을 찾을 수 없었으나, 남아에서는 어머니의 시력에 영향을 받는 것으로 나타났다. 학동기의 경우는 특히 부모와의 관련성이 높은 것으로 나타났는데 시력이 0.7이하인 그룹에서는 부모 모두 0.7이하가 많았으며, 0.7초과인 그룹에서는 부모도 같이 0.7을 초과하는 경향을 보였다. 청소년기의 경우에서도 어머니의 시력이 남아의 시력과 연관성이 있음을 보여주었다. 결론: 부모의 가족력이나 특히 어머니의 시력이상은 자녀의 시력이상에 더욱더 영향을 미치는 것으로 나타났다.

• Journal of Preventive Medicine and Public Health
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• 제45권4호
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• pp.251-258
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• 2012

Objectives: The purpose of this paper was to elucidate the potential methylation levels of adjacent normal and cancer tissues by comparing them with normal colorectal tissues, and to describe the correlations between the methylation and clinical parameters in Korean colorectal cancer (CRC) patients. Methods: Hypermethylation profiles of nine genes (RASSF1, APC, $p16^{INK4a}$, Twist1, E-cadherin, TIMP3, Smad4, COX2, and ABCB1) were examined with 100 sets of cancer tissues and 14 normal colorectal tissues. We determined the hypermethylation at a given level by a percent of methylation ratio value of 10 using quantitative methylation real-time polymerase chain reaction. Results: Nine genes' hypermethylation levels in Korean CRC patient tissues were increased more higher than normal colorectal tissues. However, the amounts of $p16^{INK4a}$ and E-cadherin gene hypermethylation in normal and CRC tissues were not significantly different nor did TIMP3 gene hypermethylation in adjacent normal and cancer tissues differ significantly. The hypermethylation of TIMP3, Ecadherin, ABCB1, and COX2 genes among other genes were abundantly found in normal colorectal tissues. The hypermethylation of nine genes' methylation in cancer tissues was not significantly associated with any clinical parameters. In Cohen's kappa test, it was moderately observed that RASSF1 was related with E-cadherin, and Smad4 with ABCB1 and COX2. Conclusions: This study provides evidence for different hypermethylation patterns of cancer-associated genes in normal and CRC tissues, which may serve as useful information on CRC cancer progression.

• Childhood Kidney Diseases
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• 제23권2호
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• 한국육종학회지
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• 제40권2호
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• pp.119-127
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• 2008

A total of 41 microsatellite markers were used with 29 genotypes to examine the relationship between SSR polymorphisms and N-use efficiency related traits with a goal to identify the putative QTLs related to these traits. These primers yielded a total of 183 alleles (average 4.46 alleles per primer), and polymorphism information content (PIC) values of the SSRs ranged from 0.119 to 0.805 with mean value of 0.425. Correlation coefficients were obtained among the four N-use efficiency traits in the 34 accessions and significant positive correlations of relative ratios between grain yield and harvest index (r=0.3404) and total dry matter (r=0.7976), while N uptake showed a moderate level of correlation with the ratios of the grain yield and total dry matter, respectively. 36.5% (15/41) SSR markers were monomorphic among the 25 japonica accessions out of the 29 accessions. Association between SSR genotypes and phenotypic performances from the total (29) or japonica (25) accessions was tested based on a single point analysis. Three putative QTL regions were detected for the ratio of grain yield. These include the chromosomal region containing the RM283 locus on chromosome 1 and RM25 on chromosome 8 (all and japonica accessions) and the region with the SSR marker, RM206 on chromosome 11 (the japonica accessions). For the total dry matter ratio, two chromosomal regions were identified as the putative QTL region. One is the region with the SSR marker, RM162 on chromosome 6 (all and japonica accessions) and the other was the one with the SSR marker RM25 on chromosome 8 (the japonica accessions). Among these markers, RM25 showed associations with both traits.

• Clinical and Experimental Pediatrics
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• 제62권2호
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• pp.55-61
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• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• 한국자원식물학회지
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• 제34권6호
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• pp.542-554
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• 2021

In this study, we cultivated 115 Soritae and 86 Yakkong black soybean landraces collected from ten different locations in Korea. Then, the variations of three yield components (one-hundred seeds weight (HSW), number of seeds per pod (SPP), and yield per plant (YPP)) and three anthocyanins (cyanidin-3-O-glucoside (C-3-O-G), delphinidin-3-O-glucoside (D-3-O-G) and petunidin-3-O-glucoside (Pt-3-O-G)) were investigated according to landrace type and collection area. Both yield components and anthocyanin contents significantly varied between the soybeans demonstrating genetic differences. Soritae landraces had the highest average HSW and TAC, whereas Yakkong landraces displayed the highest average SPP irrespective of collection area. Relatively, Yakkong landraces from Gyeongsangnam-do (1697.29 mg/100 g) and Soritae landraces from Gyeonggi-do (2340.94 mg/100 g) had the highest average TAC. Principal component analysis clearly separated Soritae and Yakkong landraces. Moreover, TAC and C-3-O-G showed positive and significant associations in both Soritae (r = 0.972) and Yakkong (r = 0.885) landraces, while yield components showed negative or weak correlations with each other. Overall, ten landraces were identified as important resources owing to their high yield (>150 g/plant) and high level of TAC (>2300 mg/100g). This study could lay foundations to molecular level investigations and reinforce the use of Yakkong and Soritae landraces during cultivar development.

• Biomolecules & Therapeutics
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• 제30권3호
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• pp.238-245
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• 2022

Previous reports have demonstrated that genetic mechanisms greatly mediate responses to drugs of abuse, including methamphetamine (METH). The circadian gene Period 2 (Per2) has been previously associated with differential responses towards METH in mice. While the behavioral consequences of eliminating Per2 have been illustrated previously, Per2 overexpression has not yet been comprehensively described; although, Per2-overexpressing (Per2 OE) mice previously showed reduced sensitivity towards METH-induced addiction-like behaviors. To further elucidate this distinct behavior of Per2 OE mice to METH, we identified possible candidate biomarkers by determining striatal differentially expressed genes (DEGs) in both drug-naïve and METH-treated Per2 OE mice relative to wild-type (WT), through RNA sequencing. Of the several DEGs in drug naïve Per2 OE mice, we identified six genes that were altered after repeated METH treatment in WT mice, but not in Per2 OE mice. These results, validated by quantitative real-time polymerase chain reaction, could suggest that the identified DEGs might underlie the previously reported weaker METH-induced responses of Per2 OE mice compared to WT. Gene network analysis also revealed that Asic3, Hba-a1, and Rnf17 are possibly associated with Per2 through physical interactions and predicted correlations, and might potentially participate in addiction. Inhibiting the functional protein of Asic3 prior to METH administration resulted in the partial reduction of METH-induced conditioned place preference in WT mice, supporting a possible involvement of Asic3 in METH-induced reward. Although encouraging further investigations, our findings suggest that these DEGs, including Asic3, may play significant roles in the lower sensitivity of Per2 OE mice to METH.

• 한국인터넷방송통신학회논문지
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• 제22권3호
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• pp.177-183
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• 2022

2차원 할당 문제는 다항시간 알고리즘이 알려지지 않은 NP-완전 문제이다. 본 논문은 위치간 거리가 일정하지 않은 랜덤형 2차원 할당 문제의 최적 해를 O(n²) 수행 복잡도로 찾을 수 있는 알고리즘을 제안하였다. 제안된 알고리즘은 위치 행렬 L에서의 최소 거리 합 위치 l_i와 시설 행렬 F에서의 최대 물동량 시설 f_j를 M={(l_i,f_j)}으로 매치키시고, M을 기준으로 최소 거리 합 l_i와 시설 행렬 F에서의 최대 물동량 시설 f_j의 매칭 쌍 (l_i,f_j)을 점진적으로 증대시키는 전략을 수행하고, 위치별 거리와 시설별 물동량 상관관계를 최적으로 반영하기 위해 시설들을 교환하는 전략을 적용하였다. 실험 데이터에 적용한 결과, 제안 알고리즘은 O(n²) 의 다항시간 알고리즘임에도 불구하고 메타휴리스틱 방법의 일종인 유전자 알고리즘의 해를 개선할 수 있었다.

• 한국작물학회지
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• 제27권1호
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• pp.49-54
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• 1982

보리의 생리적 성숙기를 외시적 형질의 변이로서 판정할 수 있는 기준을 설정하여 효과적인 단기 등숙성 계통선발과 등숙유전 연구에 활용하고저 33 품종 및 계통을 4 출수군으로 분류하여 5개 형질에 대하여 검토하였다. 그 결과를 요약하면 다음과 같다. 1. 조기출수 품종일수록 등숙기간이 길어져 출수기와 등숙기간에는 고도의 부의 상관(r=0.656$^{**}$ )를 보였고, 품종간 등숙기간의 차이가 인정되었다. 2. 성숙기 결정에 이용된 각형질중 수분함량과 외영의 색도변화가 가장 유효하였다. 3. 생리적 성숙기를 외시적 측정에 의하여 결정할 때 외영의 색도가 가장 안정하고 민감하게 변화하여 유용한 형질이었다. 또한 지엽의 색도변화를 같이 고려한다면 더 정확한 숙기판단이 될 것으로 본다. 4. 이 시기에 외영의 색은 Grayish yellow (연회황색)이었고, 평균 수분함량은 약 33%이었다.

• Genomics & Informatics
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• 제21권2호
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• pp.22.1-22.15
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• 2023

Kidney renal clear cell carcinoma (KIRC) is one of the most aggressive cancer type of the urinary system. Metastatic KIRC patients have poor prognosis and limited therapeutic options. Ankyrin 3 (ANK3) is a scaffold protein that plays important roles in maintaining physiological function of the kidney and its alteration is implicated in many cancers. In this study, we investigated differential expression of ANK3 in KIRC using GEPIA2, UALCAN, and HPA databases. Survival analysis was performed by GEPIA2, Kaplan-Meier plotter, and OS-kirc databases. Genetic alterations of ANK3 in KIRC were assessed using cBioPortal database. Interaction network and functional enrichment analyses of ANK3-correlated genes in KIRC were performed using GeneMANIA and Shiny GO, respectively. Finally, the TIMER2.0 database was used to assess correlation between ANK3 expression and immune infiltration in KIRC. We found that ANK3 expression was significantly decreased in KIRC compared to normal tissues. The KIRC patients with low ANK3 expression had poorer survival outcomes than those with high ANK3 expression. ANK3 mutations were found in 2.4% of KIRC patients and were frequently co-mutated with several genes with a prognostic significance. ANK3-correlated genes were significantly enriched in various biological processes, mainly involved in peroxisome proliferator-activated receptor (PPAR) signaling pathway, in which positive correlations of ANK3 with PPARA and PPARG expressions were confirmed. Expression of ANK3 in KIRC was significantly correlated with infiltration level of B cell, CD8+ T cell, macrophage, and neutrophil. These findings suggested that ANK3 could serve as a prognostic biomarker and promising therapeutic target for KIRC.