• 한국산림과학회지
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• 제75권1호
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• pp.38-45
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• 1986

본 연구는 Juniperus chinensis 의 7 varieties와 Pinus densiflora의 한 변종에 대한 karyotype analysis의 결과로 다음과 같은 성적을 얻었다. 1) J. chinensis v. kaizuka, J. chinensis v. aureo-variegata와 J. chinensis v. procumbens 는 tetraploid 이다. 2) 각 수종의 염색체에 있어 긴 평균장과 긴 염색체를 많이 가지고 있는 수종은 J. chinensis와 J. chinensis v. aureo-globosa 이고 그 반대로 짧은 평균장과, 짧은 염색체를 가진 수종은 J. chinensis v. horizontalis 와 J. chinensis v. globosa 이다. 3) 각 염색체의 short arm에 대한 long arm의 평균비치가 큰 수종은 J. chinensis v. globosa 와 J. chinensis v. kaizuka 이고, 작은 수종은 J. chinensis v. aureo-globosa이다. 4) 염색체를 긴 순서로 배열할 때의 배열순서가 J. chinensis 의 배열상과 가장 근사한 수종은 J. chinensis v. sargentii, J. chinensis v. horizontalis, J. chinensis v. globosa 와 J. chinensis v. aureo-globosa이며, J. chinensis v. procumbens 는 배열상이 가장 다르다. 5) Pinus densiflora for. multicaulis는 염색체 평균장이 짧고, arm ratio 는 크다. 6) 염색체를 긴 순서로 배열할 시의 longarm 과 short arm의 배열순서가 6본의 염색체에서 같이 나타난다. 7) P. densiflora for. multicaulis는 secondary constriction이 많은 염색체에서 나타난다.

• Clinical and Experimental Reproductive Medicine
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• 제19권1호
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• pp.95-101
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• 1992

During the years 1983 to 1991, cytogenetic analysis was performed on 19 women with Turner syndrome in order to find out the incidence of symptoms and signs according to the classification of chromosome abnormalities. 1. All of them showed short stature and the mean height in 7 adults was $140.71{\pm}5.26cm$. 2. Among the 19 patients with Turner syndrome, 7 (36.8%) had 45, XO karyotype, 7 (36.8%) had 46, Xi (Xq), and remained 5 (26.3%) had mosaicism. 3. Five patients with mosaicism had 45, X/46, XX (2), 45, X/46, Xi (Xq) (2) and 45, X/47, XXX (1), respectively. 4. Patients with 45, XO and 46, Xi (Xq) had amenorrhea, whereas only 33% (1/3) of patients with mosaicism had amenorrhea. Total incidence of amenorrhea was 84.6% (11/13). 5. Abnormal external genitalia was detected in 63.6% of patients. The incidence of abnormality in patients with mosaicism was lower than that of other groups. 6. OMPC and deafness were detected in 3 of 19 patients. 7. Two cases of cardiovascular abnormalities were found in patients with 45, XO. This study suggests that gnenetic counselling according to the classification of chromosomal abnormalities could be needed in patients with Turner syndrome.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.93-97
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• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• 한국수산과학회지
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• 제47권4호
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• pp.431-434
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• 2014

Cytogenetic analysis was conducted to obtain basic information for chromosome manipulation of starry flounder Platichthys stellatus. Nuclear surface area and volume of erythrocyte were $7.60{\pm}0.93{\mu}m^2$ and $12.80{\pm}1.75{\mu}m^3$, respectively. The haploid DNA content of the species was 0.66 pg/haploid cell which correspond to 93% of olive flounder Paralichthys olivaceus. A karyotype analysis was also carried out with the species using conventional staining and Ag-NOR banding techniques. It was consisted of 48 acrocentric chromosomes and inter-sex or intra-individual polymorphism was not detected in all specimens analyzed. The NOR regions, appearing a terminal position of the short arm of the smallest acrocentric pairs.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.46-50
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• 2016

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

• Journal of Crop Science and Biotechnology
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• 제10권4호
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• pp.243-248
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• 2007

Rice is a facultative short-day plant that flowers in response to reduced day lengths. This study was conducted to identify quantitative trait loci(QTL) for the early heading date(EHD) using H143 line showing extreme EHD compared to other regular cultivars in rice. The japonica H143 was crossed with a japonica cultivar 'Dongjinbyeo' as well as a tongil cultivar 'Milyang23' to measure the inheritance mode of EHD and identify major QTL conferring EHD, respectively. Pooling test revealed that segregation distortion occurred on chromosome 7 and subsequent linkage map was constructed using 10 SSR markers. QTL analysis using Q-gene 3.06 revealed that the EHD trait in H143 was largely controlled by two major QTL, EH7-1 and EH7-2, accounting for more than 40% of genetic variation that were closely related to the previously reported QTL, Hd4 and Hd2, respectively. This result suggests that these two QTL markers may be a useful source for the control of heading date in rice breeding programs.

• 한국잠사곤충학회지
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• 제44권1호
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• pp.1-3
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• 2002

뽕나무 오갈병의 발생률이 적은 장려뽕품종 “상일뽕”생장점에 Colchicine 적하처리를 하여 4배성인 4원뽕27호를 육성하였으며 그 주요 특성은 다음과 같다. 1. 염색체수는 2n=56인 4배체 이다. 2. 봄철 발아개엽기는 중생뽕이며 잎모양은 타원형과 3열엽이 혼재하는 폭광형이고 잎두께는 두껍다. 3. 가지길이와 마디사이 길이는 짧고 가지 기부의 불발아가 없으며 내동성은 모품종인 상일뽕보다 강하다.

• Journal of Microbiology and Biotechnology
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• 제26권8호
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• pp.1473-1480
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• 2016

This study focused on the variations in the non-coding sequences between ctxB and rstR of various CTX phages. The non-coding sequences of CTX-1 and CTX-cla are phage type-specific. The length of the non-coding region of CTX-1 and CTX-cla is 601 and 730 nucleotides, respectively. The non-coding sequence of CTX phage could be divided into three regions. There is a phage type-specific Variable region between two homologous Common regions (Common regions 1 and 2). The non-coding sequence of RS1 element is similar to CTX-1 except that Common region 1 is replaced by a short RS1-specific sequence. The non-coding sequences of CTX-2 and CTX-cla are homologous, indicating the non-coding sequence of CTX-2 is derived from CTX-cla. The non-coding region of CTX-O139 is similar to CTX-cla and CTX-2; however, it contains an extra phage type-specific sequence between Common region 2 and rstR. The variations in the non-coding sequences of CTX phages might be associated with the difference in the replication efficiency and the directionality in the integration into the V. cholerae chromosome.

• The Plant Pathology Journal
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• 제17권2호
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• pp.67-70
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• 2001

Medicago truncatula is a diploid legume plant related to the forage crop alfalfa. Recently, it has been chosen as a model species for genomic studies due to its small genome, self-fertility, short generation time, and high transformation efficiency. M. truncatula engages in symbiosis with nitrogen-fixing soil bacterium Rhizobium meliloti. M. truncatula mutants that are defective in nodulation and developmental processes have been generated. Some of these mutants exhibited altered phenotypes in symbiotic responses such as root hair deformation, expression of nodulin genes, and calcium spiking. Thus, the genes controlling these traits are likely to encode functions that are required for Nod-factor signal transduction pathways. To facilitate genome analysis and map-based cloning of symbiotic genes, a bacterial artificial chromosome library was constructed. An efficient polymerase chain reaction-based screening of the library was devised to fasten physical mapping of specific genomic regions. As a genomics approach, comparative mapping revealed high levels of macro- and microsynteny between M. truncatula and other legume genomes. Expressed sequence tags and microarray profiles reflecting the genetic and biochemical events associated with the development and environmental interactions of M. truncatula are assembled in the databases. Together, these genomics programs will help enrich our understanding of the legume biology.