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논문 기본 정보

자료유형
학술저널
저자정보
Lee Suman (Pochon CHA University) 이숙환 (차의과학대학교) 이교원 (성균관대학교) Park Sang hee (Pochon CHA University) Cha Kwang Yul (Pochon CHA University) 김남순 (한국생명공학연구원) 김용성 (한국생명공학연구원) Chung In Hyuk (Pochon CHA University) Yoo Hyang Sook (한국생명공학연구원)
저널정보
대한의학회 Journal of Korean Medical Science Journal of Korean Medical Science Vol.20 No.1
발행연도
2005.1
수록면
82 - 87 (6page)

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Complete or partial triplication of human chromosome 21 results in Down syndrome (DS). To analyze differential gene expressions in amniotic fluid (AF) cells of DS, we used a DNA microarray system to analyze 102 genes, which included 24 genes on chromosome 21, 28 genes related to the function of brain and muscle, 36 genes related to apoptosis, 4 genes related to extracellular matrix, 8 genes related to other molecular function and 2 house-keeping genes. AF cells were collected from 12 preg-nancies at 16-18 weeks of gestation in DS (n=6) and normal (n=6) subjects. Our DNA microarray experiments showed that the expressions of 11 genes were altered by at least 2-folds in DS, as follows. Ten genes, COL6A1, CASP5, AKT2, JUN, PYGM, BNIP1, OSF-2, PRSS7, COL3A1, and MBLL were down-regulated and GSTT1 was only up-regulated. The differential expressions of GSTT1 and COL3A1 were further confirmed by semi-quantitative RT-PCR for each sample. The gene dosage hypoth-esis on chromosome 21 may explain the neurological and other symptoms of DS. However, our results showed that only two genes (COL6A1 and PRSS7), among 24 genes on chromosome 21, were down-regulated in the AF cells of DS. Our data may provide the basis for a more systematic identification of biological markers of fetal DS, thus leading to an improved understanding of pathogenesis for fetal DS.

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