• Title/Summary/Keyword: 핵형 분석

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Systematic Study on the Fishes of the Family cobitidae (Pisces, Cypriniformes) I. Geographic Variation of Nemacheilus toni, Lefua costata, and Niwaella multifasciata (기름종개과(Family Cobitidae) 어류의 계통분류에 관한 연구 1. 종개, 쌀미꾸리 및 수수미꾸리의 지리적 변이)

  • 양서영;이혜영양홍준김재흡
    • The Korean Journal of Zoology
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    • v.34 no.1
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    • pp.110-122
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    • 1991
  • 기름종개과의 N. toni, L. costota, N. multifasciata 3종에 대한 형태분석, 핵형분석 및 전기영동법에 의한 유전자 분석을 실시 각 종의 지리적 변이 및 계통적 유연관계를 조사하였다. 형태 측정치에 대한 discriminant 분석결과 연 yoni 월악산집단, 1. costoto 거제도집단 그리고 환multifasc지물 산철집단이 같은 종내 타 집단들과 형태상 완전히 분리 되어졌다. 핵형분석에서 N. muftifosciota와 1. costoto는 2n: 50으로 염색체수는 조사된 전 집단이 변리없이 동일하였다. N to티 삼척과 진부집단은 2n: 50으로 동일하였으나 고성집단은 2n=50, In : 48인 염색체상이 한개체에서 동시에 발견되었고, 인형성부위의 위치 및 형태가 타 집단과 차이가 있었다. 전기영동을 실시하여 총 28개의 유전자를 검출, 분석하였다. 3종중 N. multifosciata 청도집단의 유전적 변이 (HDi 123, HG : .160)가 가장 높았고, N. toni 고성집단이 가장 적었다. ( HD= .017, HG= .015). N. yoni 고성집단과 강릉집단은 각 집단의 고유한 genetic marker를 다수 갖고 있으며 타집단들과 유전적 근연관계도 매우 먼 것으로 나타나 각기 독립된 별종으로 추정된다.

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A cytogenetic study of Astragalus koraiensis Y. N. Lee (정선황기의 세포유전학적 연구)

  • Han, Sang Eun;Kim, Hyun-Hee;Heo, Kweon
    • Korean Journal of Plant Taxonomy
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    • v.43 no.2
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    • pp.139-145
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    • 2013
  • This study was carried out to determine the karyotype and chromosomal localizations of 45S and 5S rDNAs using FISH in Astragalus koraiensis. The somatic metaphase chromosome number of this species was 2n = 16 with basic chromosome number of x = 8. The karyotype of A. koraiensis was consisted of six pairs of median region chromosomes(chromosome 1, 3, 4, 5, 6, 8) and two pairs of submedian chromosomes(chromosome 2, 7). Based on the FISH, one pair of 45S rDNA site was detected on the centromeric region of chromosome 5. Whereas, two pair of 5S sites were detected on the short arm of chromosome 4 and centromeric region of chromosome 7, respectively. These are quite different patterns from A. membranaceus, A. membranaceus var. alpinus, and A. mongholicus. Although A. koraiensis is considered as Korean endemic species, therefore, it should be conducted out comparative FISH study with A. sikokianus and A. bhotanensis which are very similar to A. koraiensis morphologically.

A Cytogenetic Study in Patients with Sex Chromosome Abnormalities (성염색체이상증후군의 핵형 분석)

  • Seo, Hyun Ji;Lee, Ji Hye;Lee, Heung Kyo;Jung, Seung Hee;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.12
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    • pp.1317-1323
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    • 2005
  • Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

초기 배아의 분리할구에서 중기 염색체상 획득 방법에 대한 연구: 염색체 변이로 인한 착상전 유전자 진단에서 보인자와 정상 핵형 구분을 위한 연구

  • 임천규;전진현;민동미;변혜경;김진영;궁미경;강인수
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2002.11a
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    • pp.105-105
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    • 2002
  • 염색체의 구조적 이상으로 인한 습관성 유산과 기형아의 출산을 예방하기 위해 착상전 배아에서 할구를 분석하여 정상적인 핵형을 가진 배아만을 이식하는 착상전 유전자 진단 (preimplantation genetic diagnosis, PGD)의 성공적인 임상 적용이 보고되고 있으며, 그 적용 범위가 확대되고 있다. 그러나 일반적인 간기의 핵상을 이용한 PGD에서는 형광직접보합법 probe의 제약으로 보인자와 정상적인 핵형을 구분할 수 없는 단점이 있다. 따라서 본 연구에서는 보다 정확한 PGD를 위해 생쥐 배아를 이용하여 분리한 할구에서 중기 염색체상을 획득하기 위해 미세소관 (microtubule) 형성 저해제를 처리하였으며, 이를 통해 확립된 방법을 인간의 PGD에 적용하고자 하였다. 과배란이 유도된 ICR 생쥐에서 4- 또는 8-세포기 배아를 수획하여 colcemid, nocodazole, vinblastine을 각각 0.1, 0.5, 1.0, 5.0$\mu$M을 처리하고, hoechst 33342로 염색하여 핵상을 관찰하여 최적의 농도를 결정하였다. 또한 각 미세소관 형성 저해제를 혼합 처리하여 가장 높은 중기 염색체상을 획득할 수 있는 혼합 처리를 결정하였다. 이렇게 결정된 혼합 처리 방법을 인간의 체외 수정 및 배아 이식술에서 획득된 3PN 배아에 처리하여 중기 염색체를 획득하였다. Colcemid, nocodazole, vinblastine 모두 1 $\mu$M이 최적 농도임을 확인할 수 있었다 (각각 96.3%, 92.0%, 98,4%). 미세소관 형성저해제를 혼합 처리하였을 경우 nocodazole과 vinblastine (각각 1$\mu$M)을 혼합 처리했을 때 중기 염색체 획득률(97.3%)이 가장 높았다. 인간의 3PN 배아에 1$\mu$M의 nocodazole과 vinblastine을 혼합 처리한 후, 113개의 할구를 분석하여 44개(38.9%)의 할구에서 중기 염색체를 확인할 수 있었다. 본 실험 결과를 통해 중기 염색체를 획득하기 위하여 미세소관 형성 저해제를 처리하는 방법은 생쥐의 배아에서는 효과적이지만, 인간의 배아에서는 그 효율이 다소 낮음을 알 수 있었다. 그러나 이 방법을 개선하여 인간의 할구에서 중기 염색체의 획득률을 높이고, 이를 염색체의 구조적 이상에 대한 착상전 유전자 진단에 적용한다면, 보인자와 정상의 핵상을 구분하여 정상의 핵상만을 갖는 배아의 이식을 통하여 더욱 정확한 착상전 유전자 진단을 시행할 수 있으리라 사료된다.

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Early Survival and Karyotype of Backcross Bullhead Hybrid between Pseudobagrus fulvidraco Female and P. fulvidraco $\times$ Leiocassis ussuriensis Hybrid Male (동자개 Pseudobagrus fulvidraco 암컷과 동자개 P. fulvidraco $\times$ 대농갱이 Leiocassis ussuriensis 잡종 수컷간 역교배체의 초기 생존을 및 염색체 핵형)

  • Park, Sang-Yong;Kang, Eun-Jong;Nam, Yoon-Kwon;Bang, In-Chul
    • Journal of Aquaculture
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    • v.22 no.1
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    • pp.74-78
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    • 2009
  • Backcross hybridization between Korean bullhead Pseudobagrus fulvidraco female and Korean bullhead P. fulvidraco $\times$ Ussurian bullhead Leiocassis ussuriensis hybrid male was performed, and early viability and karyotype of the backcross hybrids were examined along with their parental species. Mean fertilization rate (86.8%), hatching success (70.7%) and early survival rate (76.4%) of backcross hybrids were similar with those found in the maternal species, the Korean bullhead. From the chromosome analysis, modal chromosome numbers of Korean bullhead, Ussurian bullhead, their hybrid and backcross hybrid were the same as 2n = 52. However, their karyotypes were different among genotypes. The karyotype of backcross hybrid was 22 metacentric + 18 submetacentacentric + 12 acrocentric chromosomes.

Chromosome Compositions of Four Cultivated Cucurbitaceae Species. (박과 작물 4종의 핵형분석)

  • Kwon, Ji-Yeon;Park, Hye-Mi;Lee, Sung-Nam;Choi, Sun-Hee;Song, Kyung-A;Kim, Hyun-Hee
    • Journal of Life Science
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    • v.18 no.7
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    • pp.1019-1022
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    • 2008
  • The chromosome numbers and compositions were investigated in four cultivated species of Cucurbitaceae; Cucumis sativus L., Citrullus lanatus (Thunb.) Matsum. et Nakai, Cucumis melo L., Luffa cylindrica (L.) Roemer. through general aceto-orcein staining method. The chromosome compositions of four species were diploids of 2n=22, 2n=24 and 2n=26 respectively. The chromosomes were relatively small and showed gradual length degradation from $2.50\;{\mu}m$ to $2.16\;{\mu}m$ in Cucumis sativus, $3.71\;{\mu}m$ to $2.11\;{\mu}m$ in Cucumis melo, $3.20\;{\mu}m$ to $2.40\;{\mu}m$ in Citrullus lanatus and $3.17\;{\mu}m$ to $1.97\;{\mu}m$ in Luffa cylindrica. The chromosome types consisted of all metacentrics in Cucumis sativus, seven pairs submetacentrics and five pairs metacertrics in C. melo, four pairs of submetacentrics and seven pairs metacertrics in Citrullus lanatus, and two pairs submetacentrics and eleven pairs metacentrics in Luffa cylindrica (L.) Roemer.. The satellites were found in a pair of chromosomes in C. melo and two pairs in Luffa cylindrica. The chromosome compositions in these four species showed species-specific patterns and seemed to provide useful informations for breeding and molecular cytogenetic works on Cucurbitaceae.

Study of Electrophoretic Karyotypes of Fusarium Section Liseola (Fusarium 균의 section Liseola에 대한 핵형 연구)

  • 밍병례;안미선;최영길
    • Korean Journal of Microbiology
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    • v.35 no.3
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    • pp.192-196
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    • 1999
  • CHEF-PFGE(Contour-Clarnped Homogeneous Electric field- Pulsed Field Gel Electrophoresis) was used to identify electrophoretic karyotype for eight strains belonging to the Fzisoriuni section Liseolo. Chromosome numbers were nine to thirteen bands, ranging in size Cram 0.75 to 6.45 Mb. The total genome size was eslimated to range from 38.19 Mb to 43.12 Mb and numerous chromosome-length polymorphisms (CLPs) were observed. For the chromosome localizalion of the gene, 1GS sequence(2.6 Kb) of rDNA from F: moniliforme, chs-2 gene(2.8 Kb) and 4 - 3 gene(3.8 Kb) from Neuuospora cmssa were wed as probes.

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Karyotype analysis of Neodiplostomum seoulense (서울주걱흡충 염색체 핵형 분석)

  • Gab-Man PARK;Soo-Ung LEE;Hyun-Young PARK;Sun HUH
    • Parasites, Hosts and Diseases
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    • v.36 no.4
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    • pp.277-279
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    • 1998
  • A karyotype analysis of the chromosome of Neodiplostomum seoulense, one of causative agents of human intestinal trematodiasis, was done from the gonad tissue by the squashing method. The chromosome number was n=10 and 2n=20. Chromosome length was $1.30-4.0{\;}\mu\textrm{m}$. Chromosome pairs in the complement consisted of two pairs of metacentric, five pairs of submetacentri$cs_telocentric and three pairs of telocentric chromosomes. These data were comparable with those of other intestinal trematodes.es.

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Clinical disease characteristics according to karyotype in Turner syndrome (터너증후군에서 핵형에 따른 임상질환의 발병양상)

  • Yeo, Chae Young;Kim, Chan Jong;Woo, Young Jong;Lee, Dae Yeol;Kim, Min Sun;Kim, Eun Young;Kim, Jong Duck
    • Clinical and Experimental Pediatrics
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    • v.53 no.2
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    • pp.158-162
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    • 2010
  • Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.Results : The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P =0.025). Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010) (국내 자연유산에 의한 수태산물 핵형분석에서 관찰된 염색체 이상의 발생율과 유형: 6년(2005-2010)간 수태산물 470예 분석)

  • Han, Sung-Hee;An, Jeong-Wook;Yang, Young-Ho;Kim, Young-Jin;Cho, Han-Ik;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.44-52
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    • 2011
  • Purpose: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. Material and Methods: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. Results: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3 %), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. Conclusions: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.