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원발성 무월경 여성에서 관찰된 Pseudoisodicentric X 염색체
박상희(Sang-Hee Park),심성한(Sung Han Shim),진미욱(Mi-Uk Chin),강수진(Su Jin Kang),배성미(Sung-Mi Bae),손수민(Soo-Min Sohn),차동현(Dong-Hyun Cha),윤태기(Tae Ki Yoon),조정현(Jung-Hyun Cho) 대한의학유전학회 2008 대한의학유전학회지 Vol.5 No.1
24세의 무월경을 주소로 내원한 여성에게서 세포유전학적 검사를 시행하였다. GTG-분염법 결과, 환자의 핵형이 46,X,der(X)로 관찰되어 LSI Kallmann(KAL) 형광소식자[probes for Xp22.3 (KAL)과 CEP(X) for control]로 FISH 분석을 시행하였다. 비정상 X 염색체에서는 KAL (Xp22.3)에 대한 형광이 보이지 않았고, CEP(X)에 대한 형광이 두 개씩 관찰되었다. 간기세포 FISH 분석 결과, CEP(X) 형광소식자에 대해 분석한 세포의 90%에서 세 개의 형광이, 10%의 세포에서 하나의 형광이 관찰되어 두가지 cell line이 혼재되어 있는 모자이시즘을 확인하였다. 이들 결과들을 통해 환자의 핵형이 45,X/46,X,psu idic(X)(p22.1)이며, 이는 Xqter→Xp22.1 부분은 중복되어 있고, Xpter→Xp22.1 부분은 결실된 상태로 터너 증후군의 변형된 형태임을 판명하였다. Idic(X)와 낮은 비율의 모자이시즘을 확인하는데 CEP(X) 형광소식자로 FISH를 시행하는 것이 유용하였다. A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)×2. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter→Xp22.1 and partial monosomy for Xpter→Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.
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사람과 설치류간의 체세포 융합세포 개발과 사람유전자 지도작성을 위한 융합세포의 응용
진미욱,강윤성,이광호 中央大學校 基礎科學硏究所 1998 基礎科學硏究所 論文集 Vol.12 No.-
Human-rodent somatic cell hybrids have proven very useful in mapping genes and DNA sequences to specific chromosomes. Our experiment was directed to construct a human chromosome panel which consists of hybrid cell lines containing only a human chromosome or a few. Forty seven hybrid clones were analyzed for contained human chromosomes by G-, Q-banding but rearranged fragments of human chromosome could not be characterized by these methods. To overcome these problems, we performed IRS-PCR-FISH(interspersed repetitive sequence-PCR-FISH). To amplify the human specific DNA sequences in human-rodent somatic cell hybrids, primers directed at human-specfic regions of Alu-517(SINE) and Ll-Hs(LINE) were used. FISH using the biotin-labelled products made it possible to identify individual human chromosomes and rearranged human materials in hybrids, which were not identifiable by conventional cytogenetic methods. Thus, IRS-RCR-FISH allowed us to characterize human chromosomes in hybrid cells to generate the human chromosome panel. Unknown genes could be mapped to specific chromosmes by biochemical and molecular techniques such as enzyme and southern blot analysis combining with this panel. This panel will serve as a useful resource for mapping and cloning of novel genes.
ScienceON
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