• Journal of Genetic Medicine
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• v.5 no.1
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• pp.47-54
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• 2008

Purpose : Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. Methods : Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. Results : A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). Conclusion : The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

• Parasites, Hosts and Diseases
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• v.26 no.2
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• pp.107-111
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• 1988

As a series of systematic classification of paramphistomes, the worms in the rumen and reticulum of 310 Korean cattle slaughtered at Chonju abattoir were collected from February 1986 to June 1987 and were classified by morphology of the worms. Afterwards, the karyotype of Fischoederius cobboldi (Poirier, 1883), which is a very rare species in Korean cattle, was studied with germ cells of the worm by means of modified air-drying method. The chromosome numbers in the haploid and diploid cells of 315 F. cobboldi were n=9 and 2n=18, respectively. The meiotic divisions were observed frequently; 1,904 haploid and 49 diploid cells were recognized. Nine pairs of mitotic chromosomes were homologous in the metaphase stage and the chromosomes were composed of seven medium-sized metacentrics (m) or submetacentrics (sm) and two small-sized submetacentrics (sm). While, meiotic metaphases were composed of seven medium and two small·sized chromosomes. The 3rd, 4th, 2nd and 5th pairs of chromosomes was metacentric having centromere indices of 40.4%, 40.0%, 39.7% and 38.9%, respectively, and the remaining ones were submetacentric with centromere indices from 32,4% to 36.2%. As a series of C-banding method, C-band was shown in centromeric region from all of the haploid germ cells, except chromosome No. 1 which included heterochromatin at the tip region. Chromosomes No, 4, 6 and 9 showed remarkable C-band distinguished from others.

• Korean Journal of Plant Taxonomy
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• v.42 no.4
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• pp.307-315
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• 2012

Somatic chromosome numbers for 10 taxa and karyotypes analysis for 6 taxa of Korean Vicia were investigated. Somatic chromosome numbers of treated taxa were 2n = 12, 14 or 24 and therefore they proved to be diploid or tetraploid with basic chromosome numbers of x = 6 or 7. The chromosome number of V. hirticalycina (2n = 2x = 12) was reported for the first time in this study. The chromosome numbers of nine taxa were the same as in previous studies; V. angustifolia (2n = 2x = 12), V. cracca (2n = 4x = 24), V. hirsuta (2n = 2x = 14), V. tetrasperma (2n = 2x = 14 + 2B), V. amurensis (2n = 2x = 12), V. chosenensis (2n = 2x = 12, 12 + 2B), V. unijuga (2n = 4x = 24), V. unijuga f. minor (2n = 4x = 24), V. venosa var. cuspidata (2n = 4x = 24). The karyotypes of V. cracca, V. amurensis, V. hirticalycina, V. unijuga, V. unijuga f. minor, V. venosa var. cuspidata were observed as 2 m + 8 sm + 2 st, 2 m + 2 sm + 2 st, 3 m + 1 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 8 sm, respectively.

• Journal of Korean Society of Forest Science
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• v.73 no.1
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• pp.9-13
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• 1986

Karyotypes are described for Juniperus rigida Sieb. et zucc, in two provenances of Gyeong-nam and Choong-puk. Chromosome numbers of two provenances, are 2n=22. The most common feature of mitotic chromosomes was shown at the chromosome 7, which has secondary constriction on the short arm. And the most differential chromosome was shown at chromosome 9 from Gyeong-nam and chromosome 5 from Choong-puk provenance which bore secondary constriction. The karyotype formulae are as follows; Gyeong-nam, Jinyang provenance race is $$K(2n)=22=2A^m+2B^m+2C^m+2D^{sm}+2E^{st}+2F^m+2^{sc}G^m+2H^m+2^{sc}I^t+2J^{st}+2K^m$$ Choong-puk, Jechun provenance race is $$K(2n)=22=2A^m+2B^m+2C^m+2D^{st}+2^{sc}E^{sm}+2F^m+2^{sc}G^m+2H^m+2I^m+2J^{st}+2K^{sm}$$.

• Journal of Aquaculture
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• v.13 no.3
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• pp.193-196
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• 2000

Rhynchocypris oxycephalus and R. steindachneri show very similar karyotypes: 2n=50(EN=90), consisting of 12 metacentics, 28 submetacentrics and 10 acrocentrics with a gradual decrease in chromosome size, but with significant differences in nuclear DNA content of 2.64 and 2.52 pg/nucleus, respectively (P<0.05). Although the erythrocyte measurement and parameters of two species were similar, R. oxycephalus erythrocyte number was lower than that of R. steindachneri. Mode in karyological evolution within the genus Rhychocypris shows an increase of nuclear DNA without apparent changes in karyotype and erhthrocyte size.

• The Korean Journal of Mycology
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• v.17 no.3
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• pp.154-160
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• 1989

The nuclear transfer technique was employed to obtain intraspecific hybrids in Aspergillus nidulans. Nuclei isolated from either a wild type or an auxotrophic mutant strain (FGSC 475) were transferred into the protoplasts of a recipient strain (FGSC 514). The frequency of hybrid formation (4.8% and 10.1 %, respectively) by nuclear transfer was higher than the frequency (0.6%) by protoplast fusion. Furthermore, most of the hybrids formed showed increased activity of some components of cellulase system, xylanase system, and mannanase. The hybrids were analyzed to be either diploid or aneuploid. These results suggest that nuclear transfer technique is more efficient the formation of intraspecific hybrids than protoplast fusion method and is useful for the improvement of Aspergillus strains.

• Journal of Life Science
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• v.12 no.5
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• pp.605-609
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• 2002

None of the numerous published canine idiograms and karyotypes has yet been generally accepted as a standard one because the dog has 76 acrocentric autosomes of similar size and shape. To establish canine banded karyotype from the 22nd chromosome to the 37th chromosome, we analyzed canine chromosomes by GTG, high resolution, and NOR-banding techniques. The GTG and high resolution banding patterns of canine chromosomes corresponded to other reports described previously except for a few chromosomes. While other researchers observed 12 bands, we observed 7 bands in the banding patterns of chromosome 24, 34 and 37. On the other hand, the banding patterns by NOR-banding technique showed that three pairs of autosomes have nucleolus organizer regions at the terminal ends of their long arm, and the Y chromosome has it in its short arm terminal. However, the X chromosome has no nucleolus organizer like other mammals.

• Clinical and Experimental Pediatrics
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• v.52 no.5
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• pp.603-606
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• 2009

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

• Animal Systematics, Evolution and Diversity
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• v.2 no.1
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• pp.1-10
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• 1986

문경산 흰 넓적다리 붉은 쥐, Apodemus peninsulae peninsulae, 의 염색체 핵형 분석과 단변량 및 다변량분석방법들을 사용한 등줄쥐, Apodemus agrarius coreae, 와의 형태적 형질의 비교를 하였다. 흰 넓적다리 붉은 쥐의 염색체수는 2n=50-54R지 수적 변이를 보였다. 차단부 염색체의 수는 48개로 개체간에 일정하였으나 , 중부 염색체의 수는 2-6개의 변이가 나타났다. 형태적 형질의 분석결과는 등줄쥐보다 흰 넓적다리 붉은 쥐가 크다고 판정되었으며 가장 구별이 잘 되는 경구개의 길이였다.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.891-895
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• 2002

Purpose : The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. Methods : We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995. Intravenous pyelography(IVP) was performed on all patients; abdominal ultrasonography and 99mTc-DMSA renal scan were performed on some. Cytogenetic analysis was performed on all patients with peripheral blood lymphocytes. Results : Of the total 33 patients, the karyotype showed 45, X in 18(54.5%) patients, mosaicism in 11(33.3%) patients and structural aberration in 4(12.2%) patients. The overall incidence of renal anomalies was 36.4%. The renal anomalies included four cases of horeshoe kidney, six cases of abnormal renal collecting system one case of single kidney and one case of malrotation. The incidence of renal anomalies in 45, X karotype(44.4%) showed a higher rate than that of mosaicism and structural aberration(26.7%), but there is no statistical significance. Conclusion : The incidence of renal anomalies in Korean TS reveals 36.4%. This rate is similar to other foreign TS studies. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.