Rapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21.
Rapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21.
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DOI：
10.3349/ymj.2005.46.2.193
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发表时间：
2005-04-30
影响因子：
2.4
通讯作者：
Yang ES
中科院分区：
文献类型：
--
作者：
Yang YH;Nam MS;Yang ES
21三体（唐氏综合征）是最常见的先天性异常，每700-1000名新生儿中就有一名发生。目前的技术，如穿刺术和绒毛膜绒毛取样（CVS）需要漫长的实验室培养程序和高成本。本研究采用实时定量聚合酶链反应（PCR）技术对羊水中胎儿DNA进行快速产前诊断。用从14份正常血液样品、10份正常羊水样品、14份唐氏综合征血液样品和7份唐氏综合征羊水样品中获得的DNA模板进行实时定量PCR。使用21号染色体的D21 S167和S100 B的引物。包括使用PCR引物指导12号染色体上胰岛素样生长因子（IGF）-1基因的165-bp片段扩增的引物，以生成用于定量的内标物。唐氏综合征患者血中D21、S167和S100 B的相对水平分别是对照组的2.6倍和2.4倍。这两组之间的差异具有统计学显著性（p值分别为0.0012和0.0016）。唐氏综合征胎儿羊水中D21、S167和S100 B的相对水平分别是对照组的2.1倍和2.7倍。这两组之间的差异具有统计学显著性（p值分别为0.0379和0.0379）。应用D21 S167和S100 B的STR（small tandem repeats）实时荧光定量PCR技术对21三体进行产前诊断是一种实用、准确、快速的方法。此外，它也可能是有用的产前诊断与胎儿DNA从母血，植入前遗传学诊断和产前咨询。
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.
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影响因子：
5.3
作者：
Honda, H;Miharu, N;Ohama, K
通讯作者：
Ohama, K
DOI：
10.1111/j.1471-0528.2000.tb13338.x
发表时间：
2000-06-01
期刊：
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
影响因子：
--
作者：
Zhong, XY;Holzgreve, W;Hahn, S
通讯作者：
Hahn, S
影响因子：
3.5
作者：
MANSFIELD, ES
通讯作者：
MANSFIELD, ES
影响因子：
5.3
作者：
VONEGGELING, F;FREYTAG, M;CLAUSSEN, U
通讯作者：
CLAUSSEN, U
DOI：
10.1136/mp.51.3.164
发表时间：
1998-06-01
期刊：
JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
影响因子：
--
作者：
Findlay, I;Matthews, P;Papp, Z
通讯作者：
Papp, Z