• Korean Journal of Biological Psychiatry
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• v.26 no.2
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• pp.88-93
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• 2019

Objectives Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3 Group C Member 1, NR3C1) is possibly related to the pathogenesis of schizophrenia. In this study, we investigated the associations between polymorphisms of NR3C1 and schizophrenia. Methods Four single nucleotide polymorphisms (SNPs) (rs17100236, rs2963155, rs9324924, and rs7701443) of NR3C1 were genotyped in 208 patients with schizophrenia and 339 healthy individuals. A chi-square test was performed to test differences in allele distributions among groups. A multiple logistic regression model was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs), and multiple inheritance models to analyze the associations between schizophrenia and SNPs (the dominant, recessive and additive models). Results The minor allele frequencies of two SNPs were significantly higher in the schizophrenia group than in those of the control group (rs2963155 G > A : 0.25 vs. 0.18, p = 0.0066 ; rs7701443 A > G : 0.40 vs. 0.33, p = 0.012). The genotype frequencies of two SNPs were found to be significantly different between patients with schizophrenia and controls in the dominant model (rs2963155 : AG/GG vs. AA, OR = 1.66, 95% CI = 1.16-2.38, p = 0.0055, rs7701443 : AG/AA vs. GG, OR = 1.61, 95% CI = 1.11-2.34, p = 0.01) and the log-additive model (rs2963155 : AG vs. GG vs. AA, OR = 1.54, 95% CI = 1.13-2.10, p = 0.0067). Conclusions This study showed significant associations between NR3C1 polymorphisms and schizophrenia. It suggests that NR3C1 may play a role in the pathogenesis of schizophrenia.

• International Journal of Industrial Entomology and Biomaterials
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• v.9 no.2
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• pp.279-281
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• 2004

Components of genetic variation were estimated for five metric traits using 24 biparental progenies (N. C. Design III) generated from F$_2$ generation of a commercial bivoltine silkworm hybrid, SH$_{6}$${\times}$NB$_4$D$_2$. Variance due to additive ($\sigma$$^2$A) and dominance ($\sigma$$^2$D) gene effects was significant for single cocoon weight and shell weight. However, magnitude of former was greater than latter indicating preponderance of additive gene action in the inheritance of these two traits. Average degree of dominance was in the range of partial dominance for all the traits. High estimates of heritability (ns) indicated operation of genes with large additive effects, hence, scope exists for improvement of present populations through a few cycles of selection.n.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• Current Research on Agriculture and Life Sciences
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• v.2
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• pp.42-55
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• 1984

The direction of scientific researches on tree improvement and forest management in several universities and research institutes in Japan can be summarized as follows: They put a great emphasis on sugi, Cryptomeria japonica and cypress, Chamaecyparus oblusa which are two major conifer species largerly planted in the Japanese forestry. In the research of sugi, a great concern has been made in evaluating inheritance of forest tree, quantitative characters and genetic parameter of growth, and in breeding for resistance to diseases and insects and to all the natural calamities. Interaction between environmental conditions and genetic nature of tree can be concerned factors in relation with forest damage, together with silvicultural conditions and pest infestation. Selfing hybrids of $F_1$ made from crossing twisted-leaf sugi, defomity leaf type and midori sugi, normal leaf type segregated the normal needle, twisted needle, green leaf and albino leaf type. It seemed that separation of many defomity individuals can be governed by two dominant complementary genes and from the near loci of which it was detected lethal genes. 52% of Japanese forestry is occupied by the small forest landowners like Korean forestry. This made difficulty for forest improvement such as progressive afforestation and for capital accumulation form forestry. The Forest Corporation was established at first in 1959 to aming at productive forestry structure and forest management, and afforestation. For these purpose, 35 Forest Corporations are at moment operating throughout Japan. However, investment in forestry business becomes less attractive since the wage in forest production duction increased in higher trend. than timber price. Therefore, an artifical afforestation becomes yearly decreased. At present. the self-sufficient rate of timber production in Japan is about 35%, and so a great effort is being made to increase self-sufficient rate of timber production.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2022.09a
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• pp.23-23
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• 2022

Rapeseed (Brassica napus L.) is one of the most valuable oilseed crop in the world. It is widely used in various industries, such as food, animal feed, energy and chemical industries. In order to improve the industrial requirements for rapeseed, useful agronomic characteristics (higher yields and disease resistance etc.) and modified oil traits (fatty acid composition and fat content) are important in rapeseed. However, Korea has limiting genetic resources of novel traits in rapeseed. In this research, novel rapeseed mutant genotypes by mutation breeding was developed. The mutant lines were generated by the treatment of the seeds of the original cultivar 'Tamra' with 700 Gy of gamma-ray (⁶⁰Co). Mutants showing varied in flowering time, crude fat content, seed yield and fatty acid content that exhibited stable inheritance of the mutated characteristics from M₅ to M₇ generations were selected. We investigated genetic variation using SNPs identified from GBS analysis in rapeseed mutant lines derived from the gamma-ray, and interactions between the major agronomic and the oil traits. Significantly associated SNP loci were explored along with candidate genes using SNPs obtained by GBS analysis. As a results of association mapping, a total of 322 SNPs were significantly associated with agronomic traits (155 SNPs) and oil traits (167 SNPs). A total of 70 genes were annotated from agronomic characteristics SNPs; among them 7 genes significantly enriched in developmental process, and a total of 70 genes were annotated from crude fat content and fatty acid compositions SNPs; among them, 11genes were significantly enriched in biosynthetic process. These results could be used for the selection of rapeseed cultivar with enhanced qualities and potential economic benefits.

• Journal of Chest Surgery
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• v.50 no.5
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• pp.386-390
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• 2017

$Birt-Hogg-Dub{\acute{e}}$ syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: $p.(Arg379^*)$ in FLCN.

• The Korean Journal of Nuclear Medicine
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• v.23 no.1
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• pp.1-6
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• 1989

The occurrence of thyroid disorders is connected with iodine deficiency, defective synthesis or releasing of thyroid hormone and endemicity. Genetic factors are known as a single gene defects, interaction of multiple genes with environmental factors, as well as chromosomal aberrations. Diofnosis thyroid disorders is enforced by I-131 uptake test, thyroid scanning with I-131 or Tc-99 m and serum radioimmunoassays of T3, T4, free T4 and TSH. They were largely classified as hypothyroidism, hyperthyroidism, simple goiter and normal. The pedigree of 58 families was drawn by propositus, and then the correlation between thyroid disorders and TSH levels was analyzed. The results are as follows: 1) The offsprings and their mothers of 15 families were hypothyroidism, THS level was 5 folds for offsprings and 4 folds for mothers in comparison with control group. 2) 13 families were hyperthyyroidism in siblings but their mothers were normal in thyroid function, TSH level of the siblings was lower than control group. 3) Though the offsprings and their mothers of 10 families were similar to TSH level of control group, they are all simple goiter, familial thyroid disorders, in other thyroid function test. The familial thyroid disorders suggested that these transmitted from mothers to offsprings with X-linked dominant or autosomal dominant inheritance.

• Journal of Engineering Education Research
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• v.21 no.1
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• pp.77-89
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• 2018

The chromosomes of all the world are the same in all 24 pairs, but the key, skin color and appearance are different. Also, it is the resistance of adult disease, diabetes, cancer. In 1953, Watson, Crick of Cambridge University experimentally discovered a DNA double helix structure, and in 1962, They laureates the Nobel Prize. In 1964, Temin, University of Wisconsin, USA, experimentally identified the ability to copy gene information from RNA to DNA and received the Nobel Prize in 1975. In this paper, we analyzed 24 pairs of DNA chromosomes using mathematical matrices based on the combination order sequence of four groups, and designed the Taegeuk pattern genetic code for the first time in the world. In the case of normal persons, the middle Yin-Yang taegeuk is designed as a block circulant Jacket matrix in DNA, and the left-right and upper-lower pairs of east-west and north-south rulings are designed as pair complementary matrices. If (C U: A G) chromosomes are unbalanced, that is, people with disease or inheritance become squashed squirming patterns. In 2017, Professor Michel Young was awarded a Nobel by presenting a biological clock and experimentally explained the bio-imbalance through a yellow fruit fly experiment.This study proved mathematical matrices for balanced and unbalanced RNA.

• The Korean Journal of Malacology
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• v.30 no.3
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• pp.197-210
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• 2014

Single nucleotide polymorphisms (SNPs) are widely acknowledged as the marker of choice for many genetic and genomic applications because they show co-dominant inheritance, are highly abundant across genomes and are suitable for high-throughput genotyping. Here we evaluated the applicability of SNP markers developed from Crassostrea gigas and C. virginica expressed sequence tags (ESTs) in closely related Crassostrea and Ostrea species. A total of 213 putative interspecific level SNPs were identified from re-sequencing data in six amplicons, yielding on average of one interspecific level SNP per seven bp. High polymorphism levels were observed and the high success rate of transferability show that genic EST-derived SNP markers provide an efficient method for rapid marker development and SNP discovery in closely related oyster species. The six EST-SNP markers identified here will provide useful molecular tools for addressing questions in molecular ecology and evolution studies including for stock analysis (pedigree monitoring) in related oyster taxa.

• Journal of Nutrition and Health
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• v.31 no.1
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• pp.62-71
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• 1998

As stomach cancer is very prevalent in Koreans, various factors, especially dietary factors, related to stomach cancer incidence were examined in a case-control study. The study population consisted of 105 individual s diagnosed for stomach cancer in two general hospitals and 124 control subjects, matched for age and sex, in Seoul. Data for general characteristics, family history, smoking and alcohol consumption, personality , dietary habits and food preference were obtained by self-administered questionnaire and personal interview. Heredity was found to be one of the most important factors causing stomach cancer. In addition, genetic inheritance tended to differ between the sexes. The male patients showed significantly higher incidence of their father's relatives than mother's relatives but the female patients showed higher incidence of their mother's relatives that father's relatives. Smoking was significantly related to stomach cancer. It was also found that the cases drank alcohol more frequently and in much greater quantity than the controls. Personality was related to the incidence of stomach cancer. The cases tended to be more sensitive , impatient, and anxious to do things quickly. With regards to dietary habits, the male cases had meals significantly more irregularly than the male controls. The relative risk of preferencefor salty food and ramen showed to be significantly very high. The male cases consumed carbonated beverages and instant foods, low intake of green yellow vegetables, smoking of cigarettes and drinking of alcohol may contribute to the risk of stomach cancer.