• Korean Journal of Medicinal Crop Science
• /
• v.13 no.3
• /
• pp.118-121
• /
• 2005

Karyotypes were established in seven Angelica species cultivated in Korea. The somatic chromosome numbers were 2n = 2x = 22 with the basic number of x = 11 in all Angelica plants examined. Their metaphase chromosomes ranged from 3.56 ${\mu}M$. to 8.91 x. in length. Distinctive Karyotypes were found in two species, A. tenuissima with all metacentries, K(2n) = 2x = 22m, and A. genuflexa with all subtelocentrics, K(2n) = 2x = 22st. Karyotype formulas of A. gigas, A. acutiloha, A. sinensis, A. decursiva and A. dahurica were K(2n) = 2x = 20m + 2sm, K(2n) = 2x = 12m + 10sm, K(2n) = 2x = 16m + 6sm, K(2n) = 2x = 18m + 4sm and K(2n) = 2x = 10m + 10sm + 2st, respectively. Cytological data showed that chromosomal polymorphisms within species were observed in Angelica plants compare to other regions.

• Korean Journal of Medicinal Crop Science
• /
• v.14 no.4
• /
• pp.250-254
• /
• 2006

To elucidate cytogenetic differences, karyotype analysis and FISH (fluorescence in situ hybridization) with 45S and 5S rDNAs were carried out in the three Astragalas species: Astragalas membranaceus Bunge, A. membranaceus var. alpinus Nakai and A. mongholicus Bunge. The somatic metaphase chromosome numbers of all three species were 2n=2x=16 and the size of chromosomes ranged $2.19{\sim} 5.73\;{\mu}m$. The chromosome complement of A. membranaceus consisted of each four pairs of metacentrics (chromosomes 3,4,6 and 7) and submetacentrics (chromosomes 1,2,4 and 8). In A. membranaceus var. alpinus, the chromosome complement consisted of two pairs of metacentrics (chromosomes 4 and 8) and six pairs of submetacentrics (chromosomes 1,2,3,5,6 and 7). A. mongholicus had three pairs of metacentrics (chromosomes 6,7 and 8) and five pairs of submetacentrics (chromosomes 1,2,3,4 and 5). Using bicolor-FISH, one pair of 45S and 5S rDNA signals could be detected on the centromeric regions of chromosomes 8 and 7 of A. membranaceus and A. mongholicus, respectively. In contrast, A, membranaceus var. alpinus had one pair of 45S signals on the centromeric region of chromosome 8 and two pairs of 5S rDNA signals on the short arms of chromosomes 7 and 8.

• Korean Journal of Plant Taxonomy
• /
• v.34 no.4
• /
• pp.335-358
• /
• 2004

To investigate molecular phylogenetic relationships and to test hypothesis of hybrid origin of Ranunculus cantoniensis (Ranunculaceae), the sequences of nrDNA and chloroplast DNA were analyzed for 8 taxa and 25 accessions including 5 accessions of outgroup. In the phylogenetic trees by analyses of maximum parsimony and maximum likelihood for ITS nrDNA sequences and combined data of psbA-trnH, rps16 and trnL sequences of cpDNA, R. cantoniensis was most closely related to R. chinensis, and then to R. taciroi and R. silerifolius. The molecular phylogenetic relationships were not congruent with the previous report that R. cantoniensis was most closely related to R. silerifolius. In the sequence analysis of ITS and psbA-trnH, rps16, trnL for R. cantoniensis and the related taxa, R. cantoniensis showed polymorphism. It supported that the polymorphism also was reported in chromosome number and karyotype of R. cantoniensis. Ranunculus cantoniensis shared the marker gene of R. chinensis and R. silerifolius in ITS, and one of R. silerifolius in cpDNA. These results supported the hypothesis that R. cantoniensis was caused by hybridization between R. chinensis and R. silerifolius based on chromosome number and karyotype, and also estimated that R. silerifolius might be of maternal origin and R. chinensis be paternal.

• Laboratory Medicine Online
• /
• v.1 no.2
• /
• pp.110-114
• /
• 2011

There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.

• Journal of Genetic Medicine
• /
• v.11 no.1
• /
• pp.16-21
• /
• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Molecules and Cells
• /
• v.24 no.3
• /
• pp.358-363
• /
• 2007

Swine endothelial cells are commonly used as an in vitro model for studying features of the blood-brain barrier and some hemorrhagic diseases. However, primary cultures of swine cells have finite lifespans. To establish immortalized swine umbilical vein endothelial cells (SUVECs) using human telomerase reverse transcriptase (hTERT), the plasmid pCI-neo-hTERT was transfected into SUVECs by lipofection. Clones were selected for G418 resistance, and positive clones were amplified. One of the clones was cultured for up to 50 passages. Factor VIII-related antigen and CD34 were detected. The immortalized cells shared the properties of normal cells, such as contact inhibition, serum requirement and anchorage dependence. Karyotype analysis revealed that the immortalized cells were in the diploid range. In addition, both in vivo and in vitro assays of tumorigenicity showed no neoplastic transformation. Furthermore, NO, $PGI_2$, and ET-1 concentrations in the transfected cells were normal. These results suggest that the SUVECs immortalized by hTERT retain their original characteristics.

• Clinical and Experimental Reproductive Medicine
• /
• v.19 no.1
• /
• pp.95-101
• /
• 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.

• Korean Journal of Ichthyology
• /
• v.3 no.1
• /
• pp.36-41
• /
• 1991

The karyotype of the Niwaella multifasciata, endemic species to the Nakdong River in Korea, is reported for the first time. The sample species, Niwaella multifasciata collected from the Milyang River and the Nam River which are tributaries of the Nakdong River, has a diploid complement of 50 chromosomes composed of 10 metacentric, 28 submetacentric, 12 subtelocentric chromosomes, and 88 arm numbers. The arm number of Niwaella multifasciata was larger than any other species of Cobitidae. Sexual dimophism and intraspecific polymophism of the chromosomes were not observed in this study.

• Journal of Genetic Medicine
• /
• v.9 no.2
• /
• pp.89-92
• /
• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• The Korean Journal of Zoology
• /
• v.31 no.4
• /
• pp.309-317
• /
• 1988

내륙산 관박쥐와 제주산 관박쥐간의 동-종 여부를 조사하기 위하여 경남과 제주에서 채집한 이들 관박쥐들을 핵형분석하였다. 핵형분석의 결과, 2종 모두 염색체수는 2n=58이었으며 FN도 62였다. 상염색체에서는 중형의 2쌍과 미세형 1쌍이 중부염색체(metacentrics)였고, 대형에서 소형까지는 25쌍이 단부염색체facrocentrics)이었다. 성염색체에서 X염색체는 대형의 차중부염색체(submetacentrics)였고, Y염색체는 소형의 단부염색체(acrocentrics)이었다. 그리고 이들 염색체들은 동원체 부근에 이질염색체을 가지는 특이한 1쌍의 단부염색체(acrocentrics)가 존재하고 있었다. in this study, We analysed the karyotypes of the inland bat(Rhinolox)thus femequinum hora) and the Cheju-Island bat(Rhinorophus ferrumequinum quelpartis(\ulcorner)) collected in Kyungnam and Cheju provinces to identify the homogeneous between them. The results are as follows. The diploid number of chromosomes of them are equally 58 and the fundamental number 62. In the autosomes, metacentrics consist of two pairs of the middle form and a pair of the micro-form. And acrocentrics have 25 pairs of large and small form. In sex-chromosomes, X-chromosome is a large submetacentrics and Y is a small acrocentrics. And, these chromosomes possess a pair of particular acrocentrics having heterochromatin around centromere in both the inland bat(Rhinolophus fenmequinum korai ) and Cheju-Island bat(Rhinolophus fewmequinum querporis (\ulcorner)).