ACLS
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Liou, J.-D.
Right arrow Articles by Chiu, D.T.Y.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Liou, J.-D.
Right arrow Articles by Chiu, D.T.Y.
Annals of Clinical & Laboratory Science 34:319-323 (2004)
© 2004 Association of Clinical Scientists

Review

Human Chromosome 21-Specific DNA Markers Are Useful in Prenatal Detection of Down Syndrome

Jui-Der Liou1,*, Da-Chang Chu3,4,*, Po-Jen Cheng2, Shuenn-Dyh Chang2, Chien-Feng Sun3, Ying-Chung Wu3, Wen-Yin Liou4 and D.T.Y. Chiu3,4
1 Department of OB/GYN, Chang Gung Memorial Hospital, Taipei, Taiwan; 2 Department of OB/GYN, Chang Gung Memorial Hospital, Lin-Kou, Taiwan; 3 Department of Clinical Pathology, Chang Gung Memorial Hospital, Lin-Kou, Taiwan; 4 Graduate Institute of Medical Biotechnology, School of Medical Technology, Chang Gung University, Tao Yuan, Taiwan.

Address correspondence to Da-Chang Chu PhD, Graduate Institute of Medical Biotechnology, School of Medical Technology, Chang Gung University, Tao Yuan, 333, Taiwan, ROC; tel 886 3 211 8800 x5086; fax 886 3 211 8512; e-mail: dcchu{at}mail.cgu.edu.tw.

Trisomy 21 is the most common chromosomal aberration in live births. In this study we employed human chromosome 21-specific short tandem repeat (STR) DNA markers to determine the numbers of chromosome 21 present in fetal cells. Forty amniotic fluid samples from pregnancies complicated with fetal Down syndrome and 98 samples from euploid pregnancies were analyzed for D21S11 and interferon-{alpha} receptor (IFNAR) gene intervening sequence. Fluorescent dye-labeled primers were used in PCR amplification of these 2 markers. The PCR amplicon was analyzed with an automatic DNA sequence analyzer. The results showed that 35 of 40 fetal Down syndrome samples analyzed for IFNAR showed 3 distinct peaks, while 24 of 30 cases analyzed for D21S11 showed 3 distinct peaks. Two Down syndrome samples showed two uneven peaks. By analyzing 98 euploid pregnancies as controls, the ratios of area under the peaks were determined to be 1.31 ± 0.22 and 1.96 ± 0.18 (mean ± SD) for the euploid pregnancies and pregnancies complicated by fetal Down syndrome with 2 peaks, respectively. Our data showed that altogether 39 of 40 (97.5%) Down syndrome cases were correctly identified based on either the 3-peak pattern in one or more of the DNA markers or the relative peak area ratio calculation. In conclusion, polymorphic STR DNA markers are useful for determining the numbers of chromosome 21 in fetal cells. The high sensitivity and automation of the procedures suggest a good prospect for use of this method in prenatal detection of fetal Down syndrome. However, this is a preliminary investigation and a large-scale study is necessary to validate the clinical application of this protocol.

Keywords: Down syndrome, short tandem repeat markers, fluorescent PCR, interferon-{alpha} receptor gene






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2004 by the Association of Clinical Scientists.