• 제목/요약/키워드: HUMARA

검색결과 5건 처리시간 0.019초

Molecular Study of X-Chromosome Mosaicism in Turner Syndrome Patients using DNAs Extracted from Archives Cytogenetic Slides

  • Cho, Eun-Hee;Kim, Jin-Woo;Kim, Young-Mi;Ryu, Hyun-Mee;Park, So-Yeon
    • Journal of Genetic Medicine
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    • 제3권1호
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    • pp.21-24
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    • 1999
  • To study the X chromesome mosaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytogenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polymorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR technique of the HUMARA locus in the archived cytogenetic slides, we detected X chromosome mosaicism which could not be detected in cytogenetic analysis.

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위 이형성 상피 병변의 클론성에 대한 분자병리학적 연구 (Clonality Assay of Dysplastic Epithelial Lesions of the Stomach)

  • 최호수;김미숙;박재우;박창수;김영진;정상우
    • Journal of Gastric Cancer
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    • 제1권3호
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    • pp.129-135
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    • 2001
  • Purpose: Dysplasia or flat adenoma of the stomach is regarded as a precancerous lesion. However, the frequency and the evolutionary process of malignant transformation of gastric dysplasia are still debated. In order to see whether the lesion was a monoclonal or a polyclonal proliferation, clonality was assayed by X-linked HUMARA polymorphism. Materials and Methods: DNA was extracted from the paraffin-embedded tissue of 16 consecutive cases of endoscopic biopsy, eight of which supplied both dysplastic and nondysplastic tissue for comparison. HUMARA was amplified by PCR with or without pretreatment with methylationsensitive restriction enzyme, HpaII. The amplification products were electrophoresed on polyacrylamide gel and silver-stained. Results: Among the 16 cases, 13 cases were informative and 3 cases noninformative. Of the 13 cases, one case showed skewed lyonization, rendering 12 cases to be analyzed further. A monoclonal band pattern was noted in 2 cases, and a polyclonal band pattern in 10 cases. A review of the histopathologies of the monoclonal and the polyclonal cases did not reveal features discriminating the two groups. Conclusion: These results suggest that gastric dysplasia is a disease entity heterogeneous in the genetic level, and many cases may be non-neoplastic.

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초기 그리스 서정시에 나타난 인간의 한계 의식과 현실 감각 (Das BewuBtsein der conditio humana und der Realitatssinn in der fruhgriechischen Lyrik)

  • 조대호
    • 인문언어
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    • 제6권
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    • pp.381-405
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    • 2004
  • Elegie und Iambos gehoren zu den altesten Genre der griechischen Lyrik. Erst in diesen Gedichten aus den 7. Jh. v. Chr. beginnt der Dichter als pers nliches Subjekt seine eigenen Erfahrungen auszusprechen, w hrend or im Epos objektiv und leidenschaftslos hinter seinem Stoff zur ckblieb. So behauptet man, dass in den Gedichten der beiden Genre 'das Erwachen der Personlichkeit' (B. Snell) erfolge. Doch dieser pers nliche Charakter der fruhgriechischen Dichtung darf nicht im Sinne der Subjektivit t verstanden werden, wie man sie in der modernen Lyrik findet. Dem subjektiven Gef hl, das in den uns tradierten Fragmenten aus der fr hgriechischen Dichtung zum Ausdruck kommt, kann man n mlich ein gemeinsames Pathos ablesen, das die Elegiker und Iambographen in der Zeit des politischen Umwandels angesichts der conditio humana empfunden batten, das Pathos n mlich, das sich wohl unter dem Begriff amechanie am besten zusammenfassen lasst. In solchen Grenzsituationen, wie Krieg, Ungluck, Altern, sprechen sich die Dichter vollig hilflos aus und beklagen sich uber die menschliche Unwissenheit uber das erh ngte Schicksal. Bezeichnend f r ihre Begegnung mil der Hilflosigkeit des menschlichen Daseins ist jedoch der Realit tssinn, den sie aus ihren Erfahrungen der conditio humara bzw. amechanie gewonnen haben: Sie wollen sich weder durch einen heroischen Gedanken uber den Nachruhm noch durch einen religiosen Glauben an das Jenseits tauschen lassen. Sie wollen vielmehr hic et nunc einen Weg finden, sich mit der amechanie abzufinden. Und dabei werden zwei verschiedene Lebenswege eingeschlagen, der Weg des erotischen Hedonismus (Mimnermos und Semonides) und der des 'sardonischen' Realismus (Archilochos). Damit weisen uns die fruhgriechische Lyrik auf zwei typische Lebensrichtungen hin, die sich spater in der griechischen Ethik einb rgern sollen.

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CREST 증후군에 동반된 폐고혈압 환자에서 총상병변내 내피세포 증식의 클론성에 관한 연구 (Study on the Clonality of Endothelial Cell Proliferation in Plexiform Lesions in Patients with Pulmonary Hypertension Associated with CREST Syndrome)

  • 이상도;전용감;이지현;심태선;임채만;고윤석;김우성;김동순;김원동
    • Tuberculosis and Respiratory Diseases
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    • 제47권2호
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    • pp.150-160
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    • 1999
  • 연구배경: CREST 증후군은 전신성 경화증의 이형으로 전신성 경화증에 비교하여 병의 진행이 늦은 것으로 알려져 있다. 하지만 CREST 증후군 환자의 약 50%에서 폐나 심장질환의 증거 없이 폐고혈압이 발생하며, 이러한 환자들의 이년 생존률은 40%로 폐고혈압이 없는 환자에 비해 예후가 매우 나쁘다. 그러나 CREST 증후군에 동반되는 폐고혈압의 원인과 병리기전에 대해서는 전혀 알려진 바 없으며 막연히 원발성 폐고혈압의 이형(variant form) 또는 이차성 폐고혈압으로 분류되고 있다. 총상병변(plexiform lesion) 내 증식된 내피세포의 클론성 검증은 폐고혈압을 원발성과 이차성으로 나누는 기준이 되고 있다. 이에 저자들은 CREST 증후군이 동반된 폐고혈압 환자의 총상병변 내피세포의 클론성을 분석함으로써 CREST 동반된 폐고혈압이 원발성인지 이차성인지를 알아보고자 하였다. 방법: 폐고혈압을 동반한 CREST 증후군 여자환자에서 얻은 폐조직의 파라핀 block을 사용하여 microdissection 방법으로 총상병변내에 증식된 내피세포를 분리한후 X-염색체의 methylation pattern을 이용하여 클론성 분석을 시행하였다. 같은 방법으로 중막 비후를 보이는 혈관의 혈관 평활근과 폐실질의 클론성도 분석하였다. 결과: 14개 총상병변의 '증식된 내피세포'의 클론성 모두 다클론성 이었다. 또한 중막비후가 현저한 5개 폐동맥의 평활근세포 클론성도 모두 다클론성 이었다. 결론: 이상의 결과는 CREST 증후군에 동반되는 폐고혈압이 원발성 폐고혈압과는 다른 병리 기전을 갖는 이차성 폐고혈압임을 시사한다.

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