• Title/Summary/Keyword: 핵형분석

Search Result 198, Processing Time 0.022 seconds

A Case of Partial Inverted Duplication of Chromosome 7q (염색체 7번 장완의 부분적 역위 중복 1례)

  • Kim, Hyun Ji;Lee, So Young;Kim, Mi Young;Baek, Chung Sun;Kim, Won Duck;Lee, Dong Seok;Kim, Doo Kwun;Choi, Sung Min
    • Clinical and Experimental Pediatrics
    • /
    • v.46 no.5
    • /
    • pp.510-513
    • /
    • 2003
  • Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.

The karyotype of Korean native goat (capra hircus) (한국재래산양의 핵형분석)

  • Oh, Seung-hyun;Yun, Young-min;Yoon, Yeo-sung;Lee, Joon-sup;Lee, Heungshik S.;Seong, Je-Kyung
    • Korean Journal of Veterinary Research
    • /
    • v.39 no.5
    • /
    • pp.908-920
    • /
    • 1999
  • We investigated the cytogenetic characteristics of Korean native goat(Capra hircus). Chromosome slides were prepared from peripheral blood cell cultures. GTG, GBG, RBG and CBG-banding techniques were employed on those slides. The high resolution karyotype of Korean native goat could be made with the incorporation of BrdU. Korean native goat has 60 chromosomes composed of 58 autosomes and XY or XX sex chromosomes. All of autosomes of Korean native goat were acrocentric chromosomes. X chromosome was submetacentric and Y chromosome was metacentric. The GTG, GBG and RBG-band patterns of Korean native goat were similar to those of other goats. CBG-band regions were distinct at the proximal portion of the long arms of all autosomes in Korean native goats. According to our investigation, there was no significant difference in chromosomal band patterns between Korean native goat and other goats. It might be necessary to use molecular genetic markers for clarifying the genetical characteristics of Korean native goat whose biological characteristics are not clearly defined.

  • PDF

Disorder of Sexual Development in a Cocker Spaniel Dog: Sry-negative XX Sex Reversal (코커 스파니엘 개에서 발생한 성-발달장애: Sry-negative XX 성전환)

  • Lee, Sung-Lim;Maeng, Geun-Ho;Kim, Na-Hyun;Park, Ki-Tae;Lee, Hee-Chun;Lee, Jae-Hoon
    • Journal of Veterinary Clinics
    • /
    • v.29 no.5
    • /
    • pp.422-426
    • /
    • 2012
  • A 3-year-old Cocker spaniel was presented for evaluation because of a mass protruding from the vulva. This mass confirmed the presence of an internal bone in clitoris on the radiography. We recommended to the owner of the surgical removal of the gonads and uterus as well as the excision of the enlarged clitoris and os clitoris. The dog had gonads in the region of where the ovaries were located and presented what appeared to be a bicornate uterus and ductus deferens. Histological analysis revealed a morphologically normal uterus and two testes with their epididymis and ductus deferens. Karyotyping revealed a normal female chromosome constitution (78, XX), and polymerase chain reaction (PCR) identified the absence of Sry. Based on these findings, the patient was diagnosed with Sry-negative XX sex reversal.

Karyotype of Fasciola sp. Obtained from Korean Cattle (한국산 간질의 핵형분석)

  • Lee, Jae-Gu;Eun, Gil-Su;Lee, Sang-Bok
    • Parasites, Hosts and Diseases
    • /
    • v.25 no.1
    • /
    • pp.37-44
    • /
    • 1987
  • As a series of systematic classification for Korean common liver fluke, Fasciola sp., karyotype was investigated by means of the modified air-drying technique and of the regular Giemsa staining. Also, C-staining method was applied for detailed karyological analysis from the germ cells of the fluke. The following is a brief summary of the leading facts gained through the experiment. 1. Korean Pasciola sp. was classified into three types based on their chromosomal complements; individuals with 20 or 30 chromosomes and with a 20/30 mosaic constitution. Worms having 30 chromosomes represent a triploid form with 3 sets of 10 basic chromosomes, while those with 20 chromosomes were diploid and mosaic individuals were 2n/3n mixoploid. 2. The frequency of the individual type calculated is as follows; 67.45% of 212 flukes examined was of diploid, 10.85%, triploid, and the rest, 21.7%, mixoploid, respectively. In many cases, two or three types were found in the peculiar bovine host while single type inhabitant was about 20% out of 52 cases. 3. The twenty chromosomes consisted of 1 pair of large metacentrics, 4 pairs of medium-sized subtelocentrics, and 5 pairs of small submetacentrics, while constitution of the thirty chromosomes was nearly interpreted as a triploid form with 3 sets of 10 basic chromosomes. The high centromeric indexes of both types are the first Pairs among all the examined, and 37.93% was of diploid and 47.93%, triploid, respectively. 4. In mixoploid individuals, constitution of the chromosomes of diploid or triploid cells was the same as that of diploid or triploid individuals. 5. All the chromosomes of the germ cells in both types showed C-band around the centromeric region and especially the chromosomes no's 3,7, and 8 showed a remarkable C-band distinguished from other chromosomes. 6. The variance for the sizes of the worms and the eggs were not parallel with three different genotypes in Korean common liver fluke.

  • PDF

Karyotype Analysis and rDNA Physical Mapping in Rye (Secale cereale L.) (호밀(Secale cereale L.)의 핵형분석과 rDNA의 Physical Mapping)

  • Lee, Joon Soo;Seo, Bong Bo;Kim, Min
    • Korean Journal of Breeding Science
    • /
    • v.42 no.2
    • /
    • pp.163-168
    • /
    • 2010
  • This study was carried out to determine the chromosomal localization of the 5S and 18S-26S ribosomal DNA(rDNA) genes by means of fluorescence in situ hybridization(FISH) techniques, and the constitutive heterochromatin detected by means of Gimsa C-banding technique in rye(Secale cereale L.). The somatic chromosomes number was 2n=14. The karyotype consists of four pairs of metacentrics(chromosomes 1, 2, 3, and 7) and three pairs of submetacentrics(chromosomes 4, 5, and 6). Secondary constrictions appeared in the short arm of chromosome 1. The 5S rDNA genes have been located on two pairs of chromosomes 1 and 5, and 18S-26S rDNAs genes have been located on one pair of chromosome 1. 5S rDNA genes were detected on the distal region of the secondary constrictions in nucleolus organizer regions(NOR) in chromosome 1, and other detected on the intercalary region in the short arm of chromosome 5.

Melting and Analysis of Antibacterial and Far-Infrared Emission Glass for the mass production (항균ㆍ원적외선방사 유리의 양산화를 위한 용융 및 분석)

  • 권면주;윤태민;윤영진;이용수;강원호
    • Proceedings of the KAIS Fall Conference
    • /
    • 2002.05a
    • /
    • pp.74-76
    • /
    • 2002
  • 항균성 및 원적외선 방사량이 높은 원적외선 방사 항균 글라스 및 글라스 세라믹스의 양산화를 위한 유리 용융에 있어 대량용융의 가능성을 확인할 수 있었으며, 열처리온도는 5Li₂Oㆍ36CaOㆍ20TiO₂ㆍ27P₂O/sub 5/와 1Ag₂Oㆍ4Li₂Oㆍ36CaOㆍ20TiO₂ㆍ27P₂O/sub 5/ 조성에서 최적핵형성온도가 620℃, 최적결정성장온도가 각각 78℃, 800℃였다. 원가절감을 위산 건식법과 습식법의 결정상분석의 결과 피크의 차이는 거의 없었다. 이온교환의 경우 5.0mol AgNO₃수용액에 담지한 시편에서는 많은 LTP 결정상이 AgTP 결정상으로 변환되기 시작하여 1.0omol 농도의 AgNO₃ 수용액에서는 결정상의 주피크가 AgTP 절정상으로 변이 되었다. 이 결과로 AgNO₃ 수음액 0.5mol 농도 이상의 이온교환시 항균특성에 있어서도 매우 유리하리라 예상되어진다.

Systematic Studies of Korea Rodents : III. morphometric and Chromosomal Analyses of Striped Field Mice, Apodemus Agrarius chemuensis Jones and Johnson, from Jeju-Do (한국산 설치류의 계통분류학적 연구 : III. 제주도산 등줄쥐 (Apodemus agrarius chejuensis Jones and Johnson)의 형태적 및 염색체 분석)

  • 고흥선
    • Animal Systematics, Evolution and Diversity
    • /
    • v.3 no.1
    • /
    • pp.24-40
    • /
    • 1987
  • Striped filed mice from Jeju-Do (Apodemus agrarius chejuensis) were used for morphometric and chromosomal studies in order to compare them with striped field mice from the korean peninsula (A. Agrarius coreae). It was found that A.agrarius chejuensis and A. agrarius coreae are similar in karyotypes and it was confirmed that the former is a large-size group and the latter is a small-size group.

  • PDF

In situ Epitaxial Growth of the $TiSi_2$ on si(111)-7$\times$7 Substrate by Codeposition (동시증착에 의한 Si(111)-7$\times$7 기판 위에 $TiSi_2$ 에피택셜 성장)

  • 최치규;류재연;오상식;염병렬;박형호;조경익;이정용;김건호
    • Journal of the Korean Vacuum Society
    • /
    • v.3 no.4
    • /
    • pp.405-413
    • /
    • 1994
  • 초고진공에서 기판 Si(111)-7$\times$7 위에 Ti:Si 또는 1:2의 조성비로 Ti와 Si을 동시증착한 후 in situ 열처리하여 TiSi2 박막을 에피택셜 성장시켰다 XRD와 XPS 분석결과 동시증착된 혼합 층에서 C49-TiSi2 박막의 성장은 핵형성에 의함을 확인하였으며 양질의 C49-TiSi2 박막은 Ti를 증착한후 Ti와 Si를 동시 증착한 (Ti+2Si)/(Ti)/Si(111)-7$\times$7구조의 시료를 초고진공에서 50$0^{\circ}C$에서 열처리하여 얻을수 있었다. 형성된 C49-TiSi2/Si(111)의 계면은 깨끗하였고 HRTEM 분석 결과 C49-TiSi2\ulcornerSi(111)의 계면은 약 10。 의 편의를 가지면서 TiSi2[211]∥Si[110] TiSi2(031)/Si(111) 의 정합성을 가졌으며 시료의 전 영 역에 에피택셜 성장되었다.

  • PDF

On the Chromosome Distribution of Uterine Carcinoma in Culture (배양한 자궁암세포의 염색체 구성에 관하여)

  • Kang, Yung-Sun;Kim, Suk-Whan;Park, Eun-Ho
    • The Korean Journal of Zoology
    • /
    • v.15 no.1
    • /
    • pp.15-21
    • /
    • 1972
  • The chromosome constitutions in two cases of uterine carcinoma were studied in vitro with particular interest to the non-random distribution. The results obtained are as follows: 1. The chromosome numbers of one case were found within a normal diploid range with mode at 46, while those of the other were whithin hypotriploid range with mode at 60. 2. The data from the latter case indicated possible existence of non-random distribution of chromosome.

  • PDF

Midtrimester Amniocentesis for Prenatal Diagnosis (산전 진단을 위한 임신 중기 양수 천자)

  • Kim, Sook-Ryung;Choi, Eun-Jung;Kim, Tae-Yoon;Kwon, Kyoung-Hun;Song, Nam-Hee;Oh, Sun-Kyung;Chi, Hee-Jun
    • Journal of Genetic Medicine
    • /
    • v.5 no.2
    • /
    • pp.125-130
    • /
    • 2008
  • Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

  • PDF