• Title/Summary/Keyword: HUMARA

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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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    • v.3 no.1
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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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Clonality Assay of Dysplastic Epithelial Lesions of the Stomach (위 이형성 상피 병변의 클론성에 대한 분자병리학적 연구)

  • Choi Ho Soo;Kim Mi Sook;Park Jae Woo;Park Chang Soo;Kim Young-Jin;Juhng Sang-Woo
    • Journal of Gastric Cancer
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    • v.1 no.3
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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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Das BewuBtsein der conditio humana und der Realitatssinn in der fruhgriechischen Lyrik (초기 그리스 서정시에 나타난 인간의 한계 의식과 현실 감각)

  • 조대호
    • Lingua Humanitatis
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    • v.6
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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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Study on the Clonality of Endothelial Cell Proliferation in Plexiform Lesions in Patients with Pulmonary Hypertension Associated with CREST Syndrome (CREST 증후군에 동반된 폐고혈압 환자에서 총상병변내 내피세포 증식의 클론성에 관한 연구)

  • Lee, Sang-Do;Jeon, Yong-Gam;Lee, Ji-Hyun;Shim, Tae-Sun;Lim, Chae-Man;Koh, Yun-Suck;Kim, Woo-Sung;Kim, Dong-Soon;Kim, Won-Dong;Tuder, Rubin M.
    • Tuberculosis and Respiratory Diseases
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    • v.47 no.2
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    • pp.150-160
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    • 1999
  • Background: The CREST syndrome is an indolent form of progressive systemic sclerosis. Although its clinical progress is indolent, pulmonary hypertension(PH) associated with CREST syndrome have grave prognosis with over 40 percent mortality rate at 2 year follow-up. But the pathogenesis of pulmonary hypertension in this disease is not known, and classified as either primary or secondary PH. Clonality of endothelial cell proliferation in plexiform lesion is a molecular marker which allows distinction between primary and secondary PH. We performed this study to know whether the PH associated with CREST syndrome is a variant of primary PH or is a secondary PH. Methods: We assessed the X-chromosome inactivation based on the methylation pattern of the human androgen-receptor gene by PCR(HUMARA). Endothelial cells in plexiform lesions from female patients(n=3) with PH associated with CREST syndrome were microdissected from paraffin blocks. Vascular smooth muscle cells and lung parenchyma were also microdissected for clonality studies. Results: The proliferating endothelial cells in 14 plexiform lesions were all polyclonal. Similarly proliferated smooth muscle cells from 5 vessels with medial hypertrophy were also polyclonal. Conclusion: These results suggest that the pulmonary hypertension associated with CREST syndrome has different pathogenesis from primary PH and to be classified as secondary PH.

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