• Journal of Genetic Medicine
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• 제12권1호
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• 식물분류학회지
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• 제48권4호
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• pp.260-277
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• 2018

The evolution of chromosome numbers and the karyotype structure is a prominent feature of plant genomes contributing to or at least accompanying plant diversification and eventually leading to speciation. Polyploidy, the multiplication of whole chromosome sets, is widespread and ploidy-level variation is frequent at all taxonomic levels, including species and populations, in angiosperms. Analyses of chromosome numbers and ploidy levels of 252 taxa of Korean non-commelinid monocots indicated that diploids (ca. 44%) and tetraploids (ca. 14%) prevail, with fewer triploids (ca. 6%), pentaploids (ca. 2%), and hexaploids (ca. 4%) being found. The range of genome sizes of the analyzed taxa (0.3-44.5 pg/1C) falls well within that reported in the Plant DNA C-values database (0.061-152.33 pg/1C). Analyses of karyotype features in angiosperm often involve, in addition to chromosome numbers and genome sizes, mapping of selected repetitive DNAs in chromosomes. All of these data when interpreted in a phylogenetic context allow for the addressing of evolutionary questions concerning the large-scale evolution of the genomes as well as the evolution of individual repeat types, especially ribosomal DNAs (5S and 35S rDNAs), and other tandem and dispersed repeats that can be identified in any plant genome at a relatively low cost using next-generation sequencing technologies. The present work investigates chromosome numbers (n or 2n), base chromosome numbers (x), ploidy levels, rDNA loci numbers, and genome size data to gain insight into the incidence, evolution and significance of polyploidy in Korean monocots.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.62-66
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• 2017

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

• 원예과학기술지
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• 제33권1호
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• pp.83-92
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• 2015

xBrassicoraphanus line BB#5, a new synthetic intergeneric hybrid between Brassica rapa L. ssp. pekinensis and Raphanus sativus L. var. rafiphera induced by N-methyl-N-nitroso-urethane mutagenesis in microspore culture, shows high seed fertility and morphological uniformity. Dual-color fluorescence in situ hybridization (FISH) using 5S and 45S rDNA probes and genomic in situ hybridization (GISH) using B. rapa genomic DNA probe were carried out to analyze the chromosome composition and the meiosis pairing pattern compared to its parental lines. The somatic chromosome complement is 2n = 38, which consists of 17 metacentric and two submetacentric chromosomes with lengths of 2.18 to $5.01{\mu}m$. FISH karyotype analysis showed five and eight pairs of 5S and 45S rDNA loci. GISH meiosis pairing analysis showed that 19 complete bivalents were most frequent and accounted for 42% of the 100 pollen mother cells examined. Based on chromosome number, size, morphology, rDNA distribution, and meiosis pairing pattern, both parental genomes of B. rapa and R. sativus appear to exist in xBrassicoraphanus line BB#5, demonstrating its genome integrity. Such stable chromosome constitutions and meiotic pairing patterns in somatic and meiotic cells are very rare in natural and synthetic intergeneric hybrids. Chromosomal studies and genetic and phenotypic changes in allopolyploids a re discussed. The results p resented h erein will b e usef ul f or f urther g enomic s tudy o f xBrassicoraphanus lines and their improvement as promising new breeding varieties.

• 한국작물학회지
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• 제43권2호
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• pp.128-133
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• 1998

Analyses of now karyotypes using different maize (Zea mays L.) inbred lines have been performed. The accumulation and isolation of high quality and quantity metaphase chromosomes from root tips can be achieved from many kinds of maize lines. The chromosome suspensions were prepared by a simple slicing method from synchronized maize root tips and analyzed with a now cytometry. The variations of experimental now karyotypes were detected among inbred lines in terms of the positions and/or the numbers of chromosome peaks. The 2C DNA amount among 8 inbred lines ranged from 5.09 to 5.52 pg. The variability of DNA content in maize chromosome 1 was 9.1 % ranging from 0.685 to 0.747 pg. The selection of appropriate maize lines is critical for sorting specific single chromosome types. At least five different chromosome types can be discriminated and sorted from five maize lines.

• 한국패류학회지
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• 제18권1호
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• pp.23-26
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• 2002

경기도 가평군 외서면 호명리와 강원도 정선군 신동읍 조동리에서 채집된 깨알달팽이, Diplommatina (Sinica) paxillus와 큰깨알달팽이, Diplommatina (Sinica) changensis를 대상으로 공기건조법에 의한 염색체 관찰을 실시하였다. 실험결과 2종 모두 2n=26의 염색체 수를 지니며 6쌍의 중부염색체와 7쌍의 차중부염색체로 구성된 동일한 핵형을 나타내었으나 각 염색체 쌍의 크기와 완장비, 상대적 길이 등에서 종간 차이를 발견할 수 있었다.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2002년도 제9차 국제심포지움 및 추계정기학술발표회
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• pp.36-37
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• 2002

율무(Coix lacryma-jobi)의 핵형 분석을 한 결과 1번 염색체는 short arm과 long arm의 크기가 같은 metacentric chromosome이었으며, 전체의 염색체에 대한 상대적인 길이가 12.8로 가장 길었다. 1번 염색체는 단완과 장완의 양쪽 터미널에 각각 하나씩의 밴드를 나타냈으며 단완과 장완 각각에 interstitial band가 나타났다. 또한 1번 염색체는 단완 끝에 부수체를 갖는 NOR 염색체임을 알 수 있었다. 2번 염색체는 Short arm에 비해 long arm이 길었으며, 전체의 염색체에 대한 상대적인 길이는 11.8로 1번 염색체 다음으로 길었다. 2번 염색체 단완 끝에 하나의 터미널 밴드와 양완의 중간에 각각 interstitial 밴드를 나타냈다. 3번 염색체는 2번 염색체 보다 short arm의 길이보다 더 짧았으며, 상대적인 길이는 10.8로 2번 염색체보다 짧았다. 3번 염색체는 단완 끝에 하나의 terminal 밴드와 centromere 밴드를 나타냈다.(중략)

• Animal Systematics, Evolution and Diversity
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• 제10권2호
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• pp.231-243
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• 1994

한국에 살고 있는 다람쥐(Tamias sibiricus barberi)의 형태적 형질, 염색체 핵형 및 미토콘드리아 DNA 절단단편의 변이의 정도를 파악하기 위하여, 다변량분석, 골수세포 및 blot-hybridization법으로 표본들을 분석하였다. 아종 barberi의 분류학적 재검토를 위하여, 만주에 살고 있는 다람쥐(Tamias sibiricus orientalis)의 표본들의 형태적 형질들도 함께 분석하였다. 한국의 6개 지역의 다람쥐는 서로 형태적으로 유사했으며, 만주산 다람쥐는 한국의 다람쥐와 다른 군을 형서알 정도로의 뚜렷한 형태적 차이를 보이지는 않았다. 한국의 4개 지역의 다람쥐는 동일한 핵형(2n = 38)을 가졌고, 5개 미토콘드리아 DNA clone이 나타난 한국의 3개 지역의 다람쥐의 미토콘드리아 절단단편의 양상도 서로 유사하였다. 한국산 다람쥐는 단일한 집단이며, Corbet(1978)가 지적했던대로 아종 barberi는 아종 orientalis의 synonym임이었다. 한국과 만주산 다람쥐의 학명은 T.sibiricus orientalis이지만 분류학적 재 검토를 위하여 북한, 만주 및 중국의 표본들을 사용한 계통분류학적 연구가 필요하다고 본다.

• 한국가축번식학회지
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• 제15권2호
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• pp.87-95
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• 1991

The chromosome analyses of blood culture were made of 11 Korean native and 53 crossbred males between the Korean native cattles(K) and Charolais(C), which consisted of $K\times$K, $C\times$K, $C\times$CK, CK$\times$CCK and Charolais synthetic males(CK$\times$CCK or CCK$\times$CK). 1. The diploid(2n=60, XY) Charolais synthetic male has the 29 pairs of acrocentric autosomes, a single large submetacentric X and a small metacentric Y chromosome. 2. The numbers of G-band of karyotype in these males were a few differences in the 8 pairs of autosomes(chromosome 2, 4, 5, 6, 9, 11, 19 and 26) compared to those of purebred Korean native ones. G-banding qualities were not matched in chromosome 16, 19 and 29 with the Korean native males and also in chromosome 14, 20 and 22 with other domestic cattles. 3. The G-banding pattern between chromosome 4-6-7 and 24-25-27 was alomost similar together and the possibilityof misidentification was greater in the G-banded preparations. 4. 1/29 Robertsonian translocation and other abnormalities were not observed among 11 Korean native and 53 crossbred males. This result is considered in relation to limited data and further investigation based on larger samples may be necessary for definite conclusion.

• 한국어류학회지
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• 제2권2호
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• pp.211-216
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• 1990

연어과 어류에 있어 Robertsonian형의 염색체 전좌에 의한 염색체 다형현상은 유전진화학적 관점에서 매우 중요시 되고 있다. 저자들은 최근 미국 oregon주에서 도입된 은연어로 부터 Robertsonian 전좌에 의한 염색처 다형현상을 관찰하여 보고하는 바이다. 1. 분석된 32미 개체중 29미(암 14, 수 15)에서 2n=60 그리고 3미(암 1, 수 2) 에서 2n=61개의 염색체수를 가진 개체가 확인되었다. 2. 핵형분석 결과 2n=60인 개체들은 metacentric 염색체가 19쌍, submetacentric 염색체가 4쌍 그리고 니머지는 7쌍의 acrocentric염색체로 구성되어 있었다. 그러나 2n=61인 개체는 19쌍의 metacentric 염색체 그라고 7개의 submetacentric 염색체 그리고 7쌍의 acrocentric 염색체와 heteromorphic한 1쌍의 염색체로 구성되어 2 type 모두 arm number는 106개 였다. 3. 2n=60개체 및 핵의 크기를 분석한 결과 2 type간의 세포 및 핵의 크기는 동일하게 나타났다.