• Journal of Genetic Medicine
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• 제11권1호
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• pp.16-21
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• 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.

• Clinical and Experimental Reproductive Medicine
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• 제24권3호
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• pp.319-324
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• 1997

Despite the direct placement of sperm within the oocyte, fertilization failure still occurs after ICSI. This study was accomplished to analyze the chromosomes in oocytes failed to fertilize after ICSI comparing to oocytes failed to fertilize by conventional in vitro insemination. Seventy-four ICSI cycles and 122 conventional IVF cycles were included in analysis. Included unfertilized oocytes were from 74 patients (mean age = $32.7{\pm}3.7$). Ninety-three oocytes were informative and 83 oocytes were legible for cytogenetic analysis. Sixty-two oocytes out of 83 (74.7%) had normal chroruosomes, while 15 (18.1%) were hypoploidy, 6 (7.2%) were hyperploidy. Eighteen oocytes out of 93 (17.6%) were premature chromosome condensation (PCC). Two hundred ninety-four unfertilized oocytes after conventional insemination were subjected to chromosomal analysis and 180 oocytes were legible for analysis. One hundred thirty-two oocytes out of 180 (73.3%) were normal, while 22 (12.2%) were hypoploidy, 20 (11.1%) were hyperploidy, and 6 (3.3%) were polyploidy. Twenty-two oocytes (12.2%) were PCC. There was no difference in chromosomes between oocytes that failed to fertilize after ICSI or conventional insemination. High PCC rates in fertilization-failed oocytes suggest that oocytes maturity is another important factor in achieving successful fertilization.

• Genomics & Informatics
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• 제2권1호
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• pp.30-35
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• 2004

To investigate the XIST gene expression and its effect in a Klinefelter's patient, we used Klinefelter's syndrome (XXY) patient with azoospermia and also used a normal male (XY) and a normal female (XX) as the control, We were performed cytogenetic analysis, Y chromosomal microdeletion assay (Yq), semi-quantitative RT-PCR, and the Northern blot for Klinefelter's syndrome (KS) patient, a female and a male control, We extracted total RNA from the KS patient, and from the normal cells of the female and male control subjects using the RNA prep kit (Qiagen), cDNA microarray contained 218 human X chromosome-specific genes was fabricated. Each total RNA was reverse transcribed to the first strand cDNA and was labeled with Cy-3 and Cy-5 fluorescein, The microarray was scanned by ScanArray 4000XL system. XIST transcripts were detected from the Klinefelters patient and the female by RT-PCR and Northern blot analysis, but not from the normal male, In the cDNA microarray experiment, we found 24 genes and 14 genes are highly expressed in KS more than the normal male and females, respectively. We concluded that highly expressed genes in KS may be a resulted of the abnormal X inactivation mechanism.

• Clinical and Experimental Reproductive Medicine
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• 제23권1호
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• pp.73-79
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• 1996

골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

• 대한수의학회지
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• 제43권3호
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• pp.333-338
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• 2003

Cytogenetic and hematological analysis was performed in bovine peripheral blood from the regions around Wolsong nuclear power plant and control area. The frequency of micronuclei (MN) in peripheral blood lymphocytes from cattle was used as a biomarker of radiobiological effects resulting from exposure to environmental radiation. An estimated dare of radiation was calculated by a best fitting linear-quadratic model based on the radiation-induced MN formation from the bovine lymphocytes exposed in vitro to radiation over the range from 0 Gy to 4 Gy. MN rates in lymphocytes of cattle from Wolsong nuclear power plant and control area were 9.87/1,000 and 9.60/1,000, respectively. There were no significant differences in MN frequencies and hematological values in cattle between Wolsong and control area. The study indicates that the MN assay is a rapid, sensitive and accurate method that can be used to monitor a large population exposed to radiation.

• 한국약용작물학회지
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• 제12권5호
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• pp.397-400
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• 2004

The chromosome numbers and karyotypes were investigated in four Korean native species of the genus Hosta. The chromosome complements were diploid of 2n=60 in H. japonica var. lancifolia Nakai and H. capitata Nakai, aneuploid of 2n=59 in H. minor (Bak.) Nakai, and modified triploid of 2n=92 in H. longipes (Fr. et Sav.) Matsumura. All the species carried four sets of distinctly large chromosomes of which the chromosome types were telocentrics or subtelocentrics with $4.4{\sim}7.2\;{\mu}m$ in length. The other chromosomes were meta-, submeta, subtelo-, or telocentric types and showed gradual length degradation in the range of $1.0{\sim}3.0\;{\mu}m$. The satellites appeared vestigially in a pair or a triplet set of chromosomes which depends on the species. New chromosome number and karyotype in H. longipes were the first report in this species. The structural rearrangement was suggested to explain the modified triploid composition of 2n=92.

• Journal of Plant Biotechnology
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• 제30권2호
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• pp.123-127
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• 2003

Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using multi-color fluorescence in situ hybridization (McFISH) technique were carried out in two Angelica species. The numbers of diploid chromosomes were the same in two same in two species as 2n=22, however the lengths of chromosomes were varied from 4.25 to 6.50 ${\mu}{\textrm}{m}$ in A gigas and 4.95 to 8.50 ${\mu}{\textrm}{m}$ in A acutiloba. The chromosomes of A. gigas were composed of five metacentric and six submetacentric pairs, while those of A. acutiloba were six metacentic, one submetacentric and four subtelocentric paris. In FISH experiments, the numbers and size of 45S rDNA signals were varied between two species, however dach signal of the 5S rDNA was observed in two species.

• Asian Pacific Journal of Cancer Prevention
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• 제13권8호
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• pp.3825-3827
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• 2012

FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes. When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowly proliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1% were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzed by FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive for t(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extra signal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings were compared with the available literature. Our study clearly indicated the integrated FISH screening method to increase the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patients with suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of new abnormalities(translocation , duplication and amplification) at the gene level.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.92-95
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• 2016

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

• 한국생명과학회:학술대회논문집
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• 한국생명과학회 2003년도 제40회 국제학술심포지움
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• pp.14-27
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• 2003

The genomes of Arabidopsis and rice have been fully sequenced. Genomic sequencing provides global information about genome structure and organization. A comprehensive research account of our recent studies conducted on genome painting, comparative genomics and genome fusion is provided in order to project the prospects of plant cytogenetic research in post-genomics era. Genome analysis by GISH using genome painting is demonstrated as an excellent means suitable for visualization of a whole genome, since total genomic DNA representing the overall molecular composition of the genome is used as a probe. FISH on extended DNA fibers has been developed for high-resolution FISH and has contributed to determining the copy number and order of genes. We have also mapped a number of genes involving starch synthesis on wheat chromosomes by FISH and compared the position of these genes on linkage map of rice. Macro synteny between wheat and rice can be observed by comparing the location of these genes in spite of the fact that the size of DNA per chromosome differs by 20 fold in two. Moreover, to approach our goal towards making bread and udon noodles from rice flour in future by incorporating bread making and the noodle qualifies in rice, we have been successful in introducing large genomic DNA fragments containing agronomically important genes of wheat into a rice by successive introduction of large insert BAC clones, there by expanding genetic variability in rice. We call this method genome fusion.