Abstract:
:Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF)-1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling.
journal_name
Yonsei Med Jjournal_title
Yonsei medical journalauthors
Yang YH,Nam MS,Yang ESdoi
10.3349/ymj.2005.46.2.193keywords:
subject
Has Abstractpub_date
2005-04-30 00:00:00pages
193-7issue
2eissn
0513-5796issn
1976-2437pii
200504193journal_volume
46pub_type
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journal_title:Yonsei medical journal
pub_type: 杂志文章,评审
doi:10.3349/ymj.2014.55.1.1
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pub_type: 杂志文章,评审
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journal_title:Yonsei medical journal
pub_type: 杂志文章,评审
doi:10.3349/ymj.1997.38.6.401
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journal_title:Yonsei medical journal
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journal_title:Yonsei medical journal
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doi:10.3349/ymj.2009.50.1.137
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2009.50.2.257
更新日期:2009-04-30 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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更新日期:2007-12-31 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2004.45.1.135
更新日期:2004-02-29 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2009.50.6.796
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pub_type: 杂志文章,随机对照试验
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更新日期:2017-05-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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更新日期:2015-11-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2004.45.3.435
更新日期:2004-06-30 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2015.56.6.1503
更新日期:2015-11-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1992.33.3.258
更新日期:1992-09-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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journal_title:Yonsei medical journal
pub_type: 杂志文章,随机对照试验
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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journal_title:Yonsei medical journal
pub_type: 传,历史文章,杂志文章,评审
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journal_title:Yonsei medical journal
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更新日期:2013-03-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2001.42.4.390
更新日期:2001-08-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1995.36.2.130
更新日期:1995-05-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2014.55.5.1238
更新日期:2014-09-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1995.36.6.487
更新日期:1995-12-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2005.46.5.635
更新日期:2005-10-31 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2018.59.7.865
更新日期:2018-09-01 00:00:00
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journal_title:Yonsei medical journal
pub_type: 杂志文章
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更新日期:1997-10-01 00:00:00