• 한국응용곤충학회지
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• 제36권1호
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• pp.96-104
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• 1997

DNA 다형성을 이용한 누에 유전자 해석기술을 개발하기 위하여 광식성 누에 계통 J111과 비광식성계통 $C_3$의 DNA를 분리하여 유전자 은행을 제작하였다. 누에 유전자 은행은 genomic DNA를 EcoRI로 절단한후 pUC18에 ligation 시켜 DH5$\alpha$ E. coli에 형질전환 시켰다. 형질전환 후 얻어진 colony는 15개 누에 품종의 genomic DNA에 hybridization하였을 때 누에의 품종에 관계없이 highly repetitive, moderately repetitive 및 single 혹은 low copy number 로 구분되었다. RFLP마커에 적합한 single 및 low-copy number band만을 형성하는 colony probe을 신속하게 선발하고자 colony또는 genomic DNA로 hybridization하였다. Single 및 low-copy number의 특성을 가진 219개의 clone을 선발하여 Hind III등 8종의 제한효소별로 처리한 genomic DNA를 이용하여 다형성을 검정하여 J111과 $C_3$ 계통간 다형성을 보인 46개의 clone을 선발하였다. 선발된 clone의 일부를 J111과 $C_3$를 교배하여 얻은 $F_2$의 blot에 hybridization 결과 RFLP clone들이 양친검정에 이용가능하여 누에 RFLP 연관 지도 작성의 기반을 조성하게 되었다.

• The Plant Pathology Journal
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• 제26권2호
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• pp.159-169
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• 2010

Lesion mimic mutant (LMM) plants display spontaneous necrotic lesions on their leaves without any pathogenic infection. Specific rice LMMs designated as spotted leaf (spl) including spl1, spl3, spl4, spl5 and spl6 are genetically known as lesion resembling disease (lrd) mutant. The inheritance patterns in the $F_1$ and $F_2$ progenies of these mutants are controlled by recessive genetic factors. Lesion development in the rice LMMs were controlled by both development stages and environmental factors. The rice LMMs exhibited higher numbers of spots under $45^{\circ}C$ temperature than those under $30^{\circ}C$. Contents of chlorophyll were drastically reduced at 60 days old LMM leaves when the spot formation was severe. The levels of endogenous hydrogen peroxide were highest at 45 days old mutants but reduced at 60 days old. Transcription levels of stress related genes including thioredoxin peroxidase and protein disulfide isomerase were reduced in spotted leaves than those of non spotted leaves. It could be suggested that scavenging system against reactive oxygen species induced by either stresses or innate metabolisms may not work properly in the rice LMMs. As these rice LMMs autonomously expressed clear lesions of lrd phenotype without pathogen infection, it could be useful to understand stresses responses in plants.

• 한국수산과학회지
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• 제29권2호
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• pp.256-261
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• 1996

본 연구는 우리나라의 대표적인 연어과 어류인 은연어, 무지개송어 및 그 잡종3배체의 부화자어에 있어서의 동위효소를 분석하여 부화후 초기의 유전적 특징과 유전현상을 규명하고 이를 토대로 이들 종 및 잡종의 식별을 위한 genetic marker를 찾아보고자 5개의 동위효소에 대한 분석을 실시하였다. 이들 중 PGI에서는 종간 차이를 나타내지 않은 반면에 LDH, MDH, IDH 및 PGM 등은 은연어와 무지개송어간에 종 특이적 pattern을 나타내었는데 이는 이들 어종간의 발생 초기에 종의 식별을 위한 유전적 marker로써 유용한 것으로 판단되며, 또한 잡종 및 잡종3배체의 genetic marker로서도 상기 네 가지의 동위효소는 유용한 것으로 나타났다.

• Journal of Plant Biotechnology
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• 제7권1호
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• pp.27-35
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• 2005

Eighty-five different cultivars of Brassica rapa, B. juncea, B. nap us, B. carinata, B. oleracea and hexaploid Brassica collected from Bangladesh, Japan, China and Denmark were analyzed by SDS-PAGE for seed and leaf protein variations, using esterase, acid phosphatase and peroxidase isozyme analysis. Ten polymorphic bands were identified from seed protein however no identifiable polymorphic band was found in the leaf protein. Polymorphic markers clearly distinguished the different Brassica species as well as yellow sarson (YS) and brown seeded (BS) cultivars of B. rapa. The $F_1$ cross between YS and brown seeded cultivars showed the existance of all poly-morphic bands of the respective parents. The Bangla-deshi and Japanese cultivars of B. rapa differed in the amount of seed protein. In the case of isozyme analysis, esterase showed the highest number of polymorphic bands (13) followed by acid phosphatase (9) and peroxidase (5). These polymorphic markers were very effec-tive for classification of all the species studied in this experiment. In parentage tests using isozymes, the hybridity of intra-and-interspecific crosses of almost all the seedlings could be identified from their respective cross combinations. Esterase polymorphism showed a clear differentiation between YS and BS types of B. rapa. In addition, two esterase polymorphic markers were iden ified to differentiate some cultivars of B. juncea. Segregation patterns in these two esterase bands showed a simple Mendelian monohybrid ratio of 3:1 in $F_2$, 1:1 in test cross and 1:0 in back cross progenies. No polymorphic band was identified to distinguish different cultivars of the same species by acid phosphatase or peroxidase. Polymerase Chain Reaction (PCR) was carried out with seed coat color specific marker of B. juncea. The yellow seeded cultivars produced a strong band at 0.5 kb and weak band 1.2 kb. In the addition of these two specific bands, Japanese yellow-seeded cultivars expressed two more weak bands at 1.0 kb and 1.1 kb. Where the brown seeded cultivars generated a single strong band at 1.1 kb. In segregating population, the yellow seed coat color marker segregated at a ratio 15 (brown) : 1 (yellow), indicating the digenic inheritance pattern of the trait.

• 한국작물학회지
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• 제49권1호
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• pp.61-68
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• 2004

A reproducible transformation system via optimized regeneration media for Korean rice cultivars was established using Agrobacterium tumefeciens LBA4404 (pSBM-PPGN; gusA and bar). Although japonica rice genotypes were easier to produce transgenic plants compared to Tongil type cultivars, transformation efficiencies were not always correlated with regeneration efficiencies of non-transgenic callus on the control medium. Regeneration efficiencies of Donganbyeo, Ilmibyeo, and Manchubyeo were over 50% in non-transgenic control, however, transformation efficiencies were significantly low when only sucrose was added to the media as a carbon source. However, the medium, MSRK5SS-Pr (or MSRK5SM-Pr), that contains $5\textrm{mgL}^{-1}$ kinetin, $0.5\textrm{mgL}^{-1}$ NAA, 2 % sucrose (or maltose), 3% sorbitol, and $500\textrm{mgL}^{-1}$ proline, was the most efficient not only for regeneration of non-transgenic callus but also for regeneration of transgenic callus in the presence of L-phosphinotricin (PPT). Average transformation efficiencies of 16 Korean rice cultivars were significantly enhanced by using the optimized medium from 1.5% to 5.8% in independent callus lines and from 2.9% to 19.4% in tromsgenic plants obained. Approximately 98.9% (876 out of 885) transgenic plants obtained on optimized media showed basta resistance. Stable integration, inheritance and expression of gusA and bar genes were continued by GUS assay and PCR and Southern analysis of the bar gene. With Pst1 digestion of genomic DNA of transgenic plants, one to five copies of T-DNA segment were observed; however, 76% (19 out of 25 transgenic plants) has low copy number of T-DNA. The transformants obtained from one callus line showed the same copy numbers with the same fractionized band patterns.

• BMB Reports
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• 제44권5호
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• pp.317-322
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• 2011

Hereditary non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant inheritance syndrome. HNPCC is the most common hereditary variant of colorectal cancer (CRC), which accounts for 2-5% CRCs, mainly due to hMLH1 and hMSH2 mutations that impair DNA repair functions. Our study aimed to identify the patterns of hMSH2 and hMLH1 mutations in Chinese HNPCC patients. Ninety-eight unrelated families from China meeting Amsterdam or Bethesda criteria were included in our study. Germline mutations in MLH1 and MSH2 genes, located in the exons and the splice-site junctions, were screened in the 98 probands by direct sequencing. Eleven mutations were found in ten patients (11%), with six in MLH1 (54.5%) and five in MSH2 (45.5%) genes. One patient had mutations in both MLH1 and MSH2 genes. Three novel mutations in MLH1 gene (c.157_160delGAGG, c.2157dupT and c.-64G>T) were found for the first time, and one suspected hotspot in MSH2 (c.1168C>T) was revealed.

• 한국작물학회지
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• 제44권1호
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• pp.86-94
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• 1999

A set of rice recombinant inbred lines was developed from a cross between a Tongil type variety, Nonganbyeo, and an indica variety, BG276, by the single seed descent method. The number of the lines in the population was 272. All the agronomic characters studied except ADV (alkali-digestion value) showed continuous variation among the RILs, implying that their inheritance mode should be quantitative. The patterns of the variation in the RILs were either normal or skewed distribution. ADVs of RILs were segregated into two groups with 1:1 ratio, indicating that ADVs in this KIL population might be controlled by one major gene. Transgressive variations were also observed in all characters. Heritability values of the characters varied from 0.488 in brown/rough rice ratio to 0.895 in alkali-digestion value. In the analysis of genotypic and phenotypic correlations, the character of yield was positively correlated with 8 different agronomic characters. The number of panicles per hill was negatively correlated with culm length, panicle length, and number of spikelets per panicle. Grain length was positively correlated with grain width, grain thickness, grain length/width ratio, white belly, ADV, and amylose. However, grain length/width ratio was negatively correlated with grain width. White core was also negatively correlated with white belly and ADV.

• 한국의상디자인학회지
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• 제7권3호
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• pp.167-179
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• 2005

Skirts hold an important position in dress culture among various dress forms, being worn by more than half of mu. In this study, Chima is defined as garment for lower part of the body without crotch sewing, contrasting with trousers. The authors classify and compare the formation of the skirts of minority races in Yunnan area, based on Korean Chima, understanding the forms of skirts and examining the composition, color, pattern and material. For the study, the authors investigated 57 pieces of skirts among 341 pieces of minority races dresses from Yunn Nationality Museum collection exhibited at Korea Folk Village in May 2003, and referred to customs materials and photos in various literatures. Skirts in Yunnan area are divided into 6 areas, that is, seamless one-piece skirt area, wrapskirt area and mixed type skirt area. Skirt formation factors from the effect of environment such as climate, lifestyle and means of production were studied, and characteristics, differences and similarities were reviewed. Figure of skirts are studied by compostion, color, material, and technique. By composition, they can be classified based on the similarity to Hanbok (traditional Korean dress). By color, worshipped color and preferred color vary by races and by area. Materials vary in kinds and thickness by area with various climate. By technique, national characteristic patterns are inherited through national traditional dyeing and embroidery. It is not easy to conclude based on single item of skirt, but we suggest that national dresses have been settled through the mutual supplements between the effect of social and cultural exchange such as historical inheritance, geological environment, religion and production activity and the various forms of skirts from changes in shape, color, material and wearing form of dresses.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• Genomics & Informatics
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• 제7권2호
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• pp.107-110
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• 2009

In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central to traditional Korean medicine. Based on such observable characteristics, Sasang constitutional medicine classifies people into four constitutional types. Genetic studies of Sasang constitution would help reveal the inheritance patterns and models of the typological traits and, moreover, help with traditional medical diagnosis and treatment. To investigate the heritable aspect of Sasang constitution, we collected various pedigrees from South Korea. The study population has 101 pedigrees composed of 593 individuals. The determination of the Sasang constitution type of each individual was performed by doctors who diagnose the Sasang constitutional type of individuals as part of their professional practice. We calculated estimates of familial correlation and heritability. Parent-Offspring pairs showed the strongest familial correlation of Sasang constitutional type, with the correlation values of 0.21 and 0.28, followed by sibling pairs with the value ranging between 0.14 and 0.25. From the heritability analysis conducted with the Variance-Component method, the heritability of TE (Tae-Eum) type, SY (So-Yang) type, and SE (So-Eum) type were 55%, 41%, and 47%, respectively. This pattern of heritability was consistent with different set of analyses, which suggest the robustness of our result. Our result clearly shows that the Sasang constitution type is heritable, and further genetic analysis based on our result will shed light on the biological mechanism of Sasang constitution.