| Human chromosome 21-specific DNA markers are useful in prenatal detection of Down syndrome. | |
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MedLine Citation:
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PMID: 15487707 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jui-Der Liou; Da-Chang Chu; Po-Jen Cheng; Shuenn-Dyh Chang; Chien-Feng Sun; Ying-Chung Wu; Wen-Yin Liou; D T Y Chiu |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of clinical and laboratory science Volume: 34 ISSN: 0091-7370 ISO Abbreviation: Ann. Clin. Lab. Sci. Publication Date: 2004 |
Date Detail:
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Created Date: 2004-10-18 Completed Date: 2005-02-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0410247 Medline TA: Ann Clin Lab Sci Country: United States |
Other Details:
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Languages: eng Pagination: 319-23 Citation Subset: IM |
Affiliation:
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Department of OB/GYN, Chang Gung Memorial Hospital, Taipei, Taiwan, ROC. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniotic Fluid / chemistry Chromosomes, Human, Pair 21 / genetics* DNA / analysis Down Syndrome / diagnosis*, genetics Female Genetic Markers Humans Microsatellite Repeats Polymerase Chain Reaction Pregnancy Prenatal Diagnosis / methods* Receptor, Interferon alpha-beta Receptors, Interferon / genetics |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Receptors, Interferon; 156986-95-7/Receptor, Interferon alpha-beta; 9007-49-2/DNA |
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