• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

• Journal of Korean Society of Forest Science
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• v.94 no.6
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• pp.402-409
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• 2005

This study was undertaken to compare and estimate the severity of pitch canker of individual trees of Pinus rigida and Pinus rigida ${\times}$ P. taeda in two seed orchards in Jeju island, in which the orchards have been damaged by the pitch canker for seven years. Wind-pollinated two-year-old seedlings of P. rigida and P. rigida ${\times}$ P. taeda, in which the seedlings of P. rigida ${\times}$ P. taeda were from seeds of phenotypically selected, uninfected(but untested) trees, were inoculated with the pathogenic fungus, Fusarium circinatum, isolated from P. rigida and P. thunbergii. The virulence of the isolates was also identified. Statistically significant difference was found in 'stem cankers'(SC; ${\chi}^2=7.76$, P=0.05) among 4 plantations of P. rigida ${\times}$ P. taeda of two seed orchards. P. rigida was higher in 'top kill' (TK) and 'branch tip symptoms' (BT) than those of P. rigida ${\times}$ P. taeda. In artificial inoculation tests, mortality of the seedlings from the resistant candidates was 14% higher than that of the seedlings from the susceptible candidates. This result may becaused by unknown pollen trees and/or candidate tree selection based only on phenotype. Two of five fungal isolates, C-6-L(9) and C-6-L(19), showed significantly higher mortality (68% and 60%, respectively) than others, suggesting that these isolates can be used as virulent isolates for a mass artificial inoculation. Resistance candidate seedlings that were selected from this study can be utilized as useful materials for fundamental studies of genetics and biochemistry to breed resistance varieties to pitch canker.

• Journal of the Korean Society of Food Science and Nutrition
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• v.35 no.10
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• pp.1371-1377
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• 2006

Gene polymorphisms that are associated with sodium homeostasis in the body, such as $\alpha-adducin$ (ADDI, Gly460Trp), angiotensinogen (AGT, Met235Thr), and angiotensin converting enzyme (ACE, Ins/Del) may increase the risk for the development of hypertension. The purpose of this study was to elucidate the relationship between the singular and combined effects of ADD1, AGT, ACE genotypes, and blood pressure in elderly population. Moreover, we examined the interaction of sodium intake and polymorphisms of aforementioned genes and their effects on blood pressure. Among one hundred and nine female subjects, aged 60 and over (mean 75.9 yr), the major alleles for ADD1, AGT, and ACE polymorphisms in the studied population were Gly (66.1%), Thr (64.2%), Ins (83.5%), respectively. Analysis on the combined effects of genetic variation showed that subjects who were both ADD1 Trp/Trp and ACE Del/Del homozygotes had significantly higher systolic blood pressure (p=0.01). Similarly, ACE Del/Del homozygotes who had AGT Met allele had significantly higher diastolic blood pressure (p<0.001). However, in single-gene analyses, no association was found between any specific genotype and blood pressure. In subjects with low sodium intake, ADD1 Trp/Trp homozygotes had significantly higher systolic blood pressure than subjects who had ADD1 Gly allele (138 mmHg vs. 127 mmHg, p=0.03). There was no difference in blood pressure between ADD1 Trp/Trp and ADD1 Gly/Gly or Gly/Trp, in subjects with high sodium intake. In summary, this study shows that interactions between the ADD1, AGT and ACE genes influence systolic and diastolic blood pressure in elderly subjects, and dietary sodium intake can modulate the effects of ADD1 Gly460Trp polymorphisms on systolic blood pres sure.

• Proceedings of the Korea Society of Costume Conference
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• 2001.04a
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• pp.44-45
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• 2001

다양해지는 소비자들의 패션에 대한 개성적 표현 욕구에 따라 우리나라 미용산업은 헤어, 메이크업과 피부미용, 네일케어 분야로 전문화.세분화되면서 토탈 패션산업의 주요영역으로 성장하고 있다. 이러 한 토탈 패션의 등장으로 미용서비스에 대한 수요증가로 양적으로는 상당히 그 규모가 증가했음에도 불구하고, 서버스 품질에 대해서는 고객들에게 확실한 신뢰를 주지 못하고 있다. 이는 국내 미용업계가 미용서비스 제공자의 관점에서 일방적인 서비스를 창출하여 왔고, 고객이 바라는 서비스의 내용과 품질을 제대로 파악하지 못하고 있다는 사실을 의미하고 있다. 따라서, 본 연구는 미용실의 서비스품질의 구성 요인을 확인하고. 미용실의 서비스품질과 소비자 만 족과의 관계를 알아보는 것을 목적으로 한다. 이를 위한 본 연구의 연구문제는 다음과 같다. 첫째, 미용실의 서비스 품질을 결정하는 요인에는 어떠한 것이 있는가\ulcorner 둘째, 미용실의 서비스 품질 중 소비자 만족과 관련하여 상대적으로 중요한 서비스 품질 결정요인은 무엇인가\ulcorner 본 연구를 위한 예비조사에서는 개방형 질문(open-ended question)을 실시하였다. 예비조사결과 프랜차이즈 미용실, 시내중심가 미용실 그리고 집.직장 근처 미용실의 3가지 유형의 미용실은 그 규모나 소비 자 인식이 상이하여 미용실의 서비스품질 차원을 연구하는데 유용한 것으로 나타났다. 본조사에서는 설문지법을 이용하였으며, 그 대상은 서울 지역의 3가지 유형의 미용실을 이용하는 고객들중 2 20-30대의 주요 고객층으로 정하였고 편의 표집하였다. 분석방법으로는 신뢰도 검증을 위해서는 Cronbach's 외 alpha값을 활용하였고, 미용실의 서비스품질 차원의 개념 타당성을 알아보기 위하여 LISREL을 이용한 확인 적 요인분석(confirmatory factor analysis)을 실시하였다. 또한 미용실의 유형에 따른 서비스 품질의 차이를 알아보기 위해서 일원변량분석(one-way ANDV A)을 실시하였으며, 서비스품질 속성들 중 소비자 만족을 결정하는 요인들을 알아보기 위해서 다중 회귀분석(multiple regression analysis)을 실시하였다. 본 연구의 결과들을 요약하면 다음과 같다. 첫째, 미용실의 서비스 품질을 결정하는 요인으로 는 물리적 서비스(유형성, 접근성, 청결성), 판매원 관련 서비스(감정배려, 능력), 정책관련 서비스(점포운영, 명성, 신용카드) , 미용기술관련 서비스로 나타났다. 둘째, 미용실의 서비스 품질을 결정하는 요인들에 있어서 점포 유형간의 차이를 분석한 결과 전체적으로 응답자들은 프랜차이즈 미용실의 서버스 품질에 가장 만족했으며, 시내중심가 미용실과 집근처 미용 실 순으로 나타났다. 셋째, 미용실의 소비자 만족을 예측하는데 유의한 서비스 품질 결정 요일을 살펴보면, 프랜차이즈 미용 실은 청결성($\beta$ =.30), 감정배려($\beta$ =.54), 명성($\beta$ =.60), 미용기술관련 서비스 차원($\beta$ =.68)이 결정 요인으로 나타났다. 시내중심가 미용실은 청결성($\beta$ =.39), 직원의 능력($\beta$ =.49), 명성($\beta$ =.59), 미용기술관련 서비스 차원($\beta$ =.68)가 서비스 결정 요인이었고, 집근처 미용실은 청결성($\beta$ =.27), 감정배려 ($\beta$ =.57), 명성($\beta$ =.73), 미용기술관련 서비스 차원 ($\beta$ =.60)으로 나타났다. 이것으로 미용실의 소비자 만족을 예측하는데 유의한 서비스 품질 결정 요인은 청결성, 감정배려, 명성, 상품관련 서비스임을 알 수 있다. 본 연구의 방법론적 의미는 그 동안 개발된 소매점이나 패션점포의 서비스 품질에 대한 평기척도를 우리나라 미용실에 적용해 봄으로써 미용실의 특성인 유행성, 청결성, 미용실의 명성, 직원과의 친분 등을 포함한 미용실의 서비스 품질 차원과 그 신뢰성 과 유용성을 입증하였다는데 그 의미가 있다. 또한 본 연구의 결과는 미용실 서비스에 대한 소비자들의 인식과 각 미용실의 유형에 따른 소비자 만족을 예측하는데 중요한 서비스 품질 결정 요인들을 통해서 좀 더 나은 미용서비스를 정착시키는데 필요한 전략 을 수립할 수 있다는데 실질적 의미를 지닌다.

• The Journal of Engineering Geology
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• v.25 no.1
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• pp.83-91
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• 2015

Few studies have investigated soil management policy and soil erosion measurement, whereas the occurrence of climate change requires the establishment of robust soil management systems and appropriate control of soil erosion. In this study, we developed a smart sensor for real-time quantitative measurements of soil erosion at the watershed scale. The smart sensor consists of an ultrasonic sensor, a rainfall meter, a solar cell, an RTU (remote terminal unit),and a CDMA (code division multiple access) and it was programmed to take a measurement every 30 minutes. The depths measured by the smart sensor were compared with data from terrestrial LiDAR. Experimental results showed a strong correlation in the depth of soil erosion between LiDAR and the ultrasonic sensor for the period from 22 August to 11 October 2013. Furthermore, the correlation coefficient between soil erosion depth (mm) and soil erosion volume (m³) was 0.9063 in the lower region of the watershed and is 0.9868 in the upper region. The proposed ultrasonic sensor technique can provide high-quality data for soil conservation and management systems in the future.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1260-1265
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• 2003

Purpose : In 1970, the Berlin-Frankfurt-Munster(BFM) group introduced an intensification therapy after remission induction to reduce relapse of acute lymphoblastic leukemia(ALL) in childhood. Delayed intensification(DI) phase has been included for treatment of ALL in our hospital since the mid-1990s. The purpose of this study is to evaluate the outcome with vs. without DI phase and the outcome with two vs. one DI phase for intermediate risk patients. Methods : One hundred and thirty nine children with ALL who were treated at the Department of Pediatrics of Wonju Christian Hospital and Yonsei University Medical Center between March, 1990 and July, 2002 were analysed retrospectively. Results : Thirty-eight patients were treated with a DI phase, and 101 patients were treated without a DI phase. Among the DI patients, seven patients were treated with a double DI phase. Five-year overall survival(OS) in the low, intermediate, and high risk groups were 68%, 66% and 58%, respectively. 5-year OS in DDI, DI, and control were 95%, 86% and 40%, respectively. In the low risk group, 5-year event free survival(EFS) in DI, and control were 94% and 58%, respectively. Conclusion : Delayed intensification improved EFS on childhood ALL in all risk groups.

• Journal of Bio-Environment Control
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• v.23 no.1
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• pp.50-55
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• 2014

This study was conducted to investigate the responses of red pepper (Hongjinju) leaves under water stress. Hyperspectral short wave infrared (SWIR, 1000~1800 nm) reflectance imaging techniques were used to acquire the spectral images for the red pepper leaves with and without water stress. The acquired spectral data were analyzed with a multivariate analysis method of ANOVA (analysis of variance). The ANOVA model suggested that 1449 nm wavebands was the most effective to determine the stress responses of the red pepper leaves exposed to the water deficiency. The waveband of 1449 nm was closely related to the water absorption band. The processed spectral image of 1449 nm could separate the non-stress, moderate stress (-20 kPa), and severe stress (-50 kPa) groups of red pepper leaves distinctively. Results demonstrated that hyperspectral imaging technique can be applied to monitoring the stress responses of red pepper leaves which are an indicator of physiological and biochemical changes under water deficiency.

• Korean Journal of Poultry Science
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• v.17 no.4
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• pp.243-254
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• 1990

This study was carried out to investigate the effectiveness of the selection for commercial populations of layer chickens subjected to multiple objectives. For that purpose, predicted selection responses obtained from estimated genetic parameters and observed values were compared. Data for two layer pure lines, Line-w(Single Comb White Leghorn) and Line-B (brown layer) which have been maintained at the Mani Breeding Farm were collected from 1980 to 1985 during 5 generations. The annual genetic gains were estimated by the moth of selection index in retrospect on the basis of selection differentials, phenotypic and genetic variance-covariance for the traits considered. SM was found to be shorten by 1.67 days and 1.14 days per generation in Line-W and Line-B. EN300 and EN400 were found to be increased by 4.15 and 5.92 per generation in Line-W and 257 and 3.73 per generation in Line-B. The annual gains realized were found to be significantly different from expected gains predicted on the basis of the annual selection differentials and genetic parameters in later generations, but it could not be concluded that the differences were attributed to genetic effects.

• Journal of the Korea Society of Computer and Information
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• v.27 no.2
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• pp.219-227
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• 2022

This study is to structurally analyze the effect of authoritative, authoritarian, and permissive three-dimensional parenting behavior on pragmatic language ability in the field of child language development by using data from the Panel Study on Korean Children, which was completed and published in 2018. As a result of the study, looking at the effect of three-dimensional parenting behavior on children's language ability, first, the authoritative parenting behavior, which provides a clear direction for parents in raising their children, and takes a rational and consistent way, is effective in improving pragmatic language ability appeared to have a positive effect. Second, it was found that authoritarian parenting behavior that strictly controls children's behavior in the direction desired by parents and demands absolute obedience from children did not have a significant effect on the improvement of children's pragmatic language ability. Lastly, it was found that the permissive parenting behavior of the neglect type, which allows children to do whatever they want, has a negative effect on the children's pragmatic language ability. Based on these results, in order to equip children who will live in an era where creativity and problem-solving ability are important to have the ability to express themselves accurately, parenting behavior, which is a very important ecosystem for children's language development, needs to be done correctly.