• Title/Summary/Keyword: 핵형분석

Search Result 198, Processing Time 0.025 seconds

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
    • /
    • v.48 no.12
    • /
    • pp.1317-1323
    • /
    • 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.

Construction of Intraspecific Hybrids by Nuclear Transfer in Aspergillus nidulans (Aspergillus nidulans 에서의 핵전이에 의한 종내잡종 형성)

  • Yang, Young-Ki;Park, Yeol;Rhee, Young-Ha;Maeng, Pil-Jae
    • The Korean Journal of Mycology
    • /
    • v.17 no.3
    • /
    • pp.154-160
    • /
    • 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.

  • PDF

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
    • /
    • 2002.11a
    • /
    • pp.105-105
    • /
    • 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.

  • PDF

Development of Semi-Automatic Karyotyping System Using Image Processing (화상처리를 이용한 반자동 핵형분석 시스템의 개발)

  • 김학경;강병철;박준형;서진호;김상봉
    • Journal of Institute of Control, Robotics and Systems
    • /
    • v.9 no.10
    • /
    • pp.844-851
    • /
    • 2003
  • We introduces a development result of semi-automatic karyotyping system using image processing method to improve a long time working of the manual method and 5% error of traditional automatic karyotying system for analyzing karyotying. The karyotyping procedures have many routine tasks such as searching metaphases, taking pictures, developing, editing, etc. There are several automatic karyotyping systems in order to reduce the task in advanced countries. However, they are very expensive, applicable to only human chromosome, and have too many functions to use easily. This paper takes aim at high quality image resolution and development of interface that can adjust brightness and contrast of image on-line. The system can be applied to animal and plants as well as human's chromosome. The system developed in this paper is applied to pig and human. The effectiveness of the system is proved by hospitals in Korea.

karyotypic Analysis Based on Heterochromatin Distribution in Allium fistulosum and Allium ascalonicum (Allium fistulosum과 Allium ascalonicum에서 헤테로크로마틴 분포에 의한 핵형분석)

  • 서봉보
    • Journal of Plant Biology
    • /
    • v.18 no.3
    • /
    • pp.92-100
    • /
    • 1975
  • The present study demonstrates karyotype based on H-patterns of A.fistulosum and A. ascalonicum using Giemsa technique. The results obtained in this study are summarized as follows: I). Karyotypic analysis of A. fistulosum is 6VII+$JII^t+JII$ and that of A. ascalonicum collected from a local farm in the suberbs of Taegu city clearly heterozygous as $13V+J_1^t+J_2+i. ii$). The heterochromatin of both species is generally located distally in both arms of chromosomes and each chromosome type possesses some variations on H-patterns. iii). The percentage of heterochromatin to total chromosome length in cell is about 14.6% in A. fistulosum, 12.8% in A. ascalonicum. The number of bands is revealed about 38 in A. fistulosum and 33 in A. ascalonicum. Also in the amounts of chromocenters per nucleus, the former is somewhat more than the latter.

  • PDF

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

  • 밍병례;안미선;최영길
    • Korean Journal of Microbiology
    • /
    • v.35 no.3
    • /
    • pp.192-196
    • /
    • 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.

  • PDF

The Study of G- Banding Chromosome in Silkie (오골계의 염색체 분염법 (G-banding)에 따른 핵형분석에 관한 연구)

  • 강태석;오봉국;손시환
    • Korean Journal of Poultry Science
    • /
    • v.12 no.2
    • /
    • pp.83-87
    • /
    • 1985
  • This experiment was carried out to identify the chromosomes of silkie. It was many difference from other breeds in morphology and characteristics. In this experiment, chromosomal analysis was used early embryos. In aspect of morphological chromosomes, chromosomal size and shape are similar to other breeds. The chromosomes of silkie were shown to morphlogy as follows. They were identified that chromosome #l and #2 were grouped as submentacentric, #3, #5 and #6 were telocentric #4 and #7 were acrocentric and #8 was metacentric chromosome. Zㆍsex chromosome was shown 5th, W-sex chromosome was 8th to 9th and they were metacentric chromosome, respectively. Each chromosome through the G-banding was shown the 3 dark bands in 1 p2, distinct light band in 1p1, dark band in 2p2, broad light band in 3pl, dark band from centromere and distal part in 4th chromosome and dark band in 5pl. Z-sex chromosome was shown dark at p-arm distal part.

  • PDF

Cytological Studies of Two Species of Genus Cipangopaludina ( Mesogastropoda : Viviparidae ) in Korea (한국산 논우렁이 2종의 세포학적 연구)

  • Gab-Man Park;Younghun Jung
    • The Korean Journal of Malacology
    • /
    • v.13 no.1
    • /
    • pp.21-27
    • /
    • 1997
  • 한국에 분포되어 있는 논우렁이과(Viviparidae)권패류는 논우렁이(Cipangopaludina chinensis malleata)와 큰논우렁이(C. japonica), 두 종이 보고되어 있으나 형태학적 유사성 때문에 감별이 용이치 않다. 우선, 본 연구에서는 두 종간에 염색체 수와 핵형분석 결과를 비교해 보고자 하였다. 두 종 모두 염색체 수는 2n=18이었으며 성염색체는 구별할 수 없었고, 두쌍의 metacentric과 7쌍의 submetacentric염색채를 갖고 있었다. 두 종간 평균 염색체 크기에는 큰논우렁이가 논우렁이보다 약 10 $\mu\textrm{m}$정도 크게 나타났다.

  • PDF

Chromosome analysis by GTG banding technique in the DongGyeongi dogs (GTG banding에 의한 경주지방의 무미 또는 단미 형태의 개(경주개 동경이)의 핵형분석)

  • Choi, Seog-Kyu;Sung, Ki-Chang;Lee, Eun-Woo;Park, Chang-Eun
    • Korean Journal of Veterinary Service
    • /
    • v.33 no.2
    • /
    • pp.207-211
    • /
    • 2010
  • None of the numerous published canis idiogram and karyotypes has yet been generally accepted as a standard one because the dog has 76 acrocentric autosomes of similar size and shape. The karyotypes of DongGyeongi dog were analysed by conventional trypsin/Giemsa staining (GTG-banding techniques), and were compared with one another. There were no variations in karyotypes which were analysed by conventional GTG-banding techniques, but differences were observed in G-banding patterns with sapsaree (or canis familiaris strains). It is not clear that these disagreements in G-banding patterns between strains of dog were caused by chromosome polymorphism or a difference in interpretation.

Automatic Extraction of Chromosome Image Samples for the Karyotype Analysis (핵형분석을 위한 염색체 영상 표본의 자동 추출)

  • Chang, Yong-Hoon;Lee, Kwon-Soon;Jeon, Gye-Rok
    • Proceedings of the KIEE Conference
    • /
    • 1995.07b
    • /
    • pp.661-663
    • /
    • 1995
  • Chromosome analysis is an important and difficult task for clinical diagnosis for mutagen dosimetry, and for biological research. It is expensive, time consuming and imprecise when performed manually. Efforts to automate some or all of the procedures have continued for more than 30 years, with only limited success. An acquiring sample from chromosome group is not solved with automatic method. It is still performed by user. This paper represents the method of an automatic chromosome sample extraction which based on region splitting, and scan converted method.

  • PDF