Overexpression of esterase D in kidney from trisomy 13 fetuses.
Overexpression of esterase D in kidney from trisomy 13 fetuses.
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DOI：
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发表时间：
1993-10
影响因子：
9.8
通讯作者：
S. Loughna;Phillip R. Bennett;Gillian S. Gau;Kypros H. Nicolaides;Susan Blunt;Gudrun E. Moore
中科院分区：
文献类型：
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作者：
S. Loughna;Phillip R. Bennett;Gillian S. Gau;Kypros H. Nicolaides;Susan Blunt;Gudrun E. Moore
人类13三体综合征（Patau综合征）发生率约为1/5，000活产。它与生命相容，但长期生存是罕见的。异常通常涉及泌尿生殖系统、心脏、颅面和中枢神经系统。这些异常可能是由于13号染色体上发育重要基因的过度表达所致。酯酶D（定位于染色体13 q14.11）的表达已被调查，在肌肉和肾脏从三体13胎儿，并与正常的年龄和性别匹配的胎儿组织进行了比较，通过使用北方分析。在两个13三体胎儿的肾脏中发现酯酶D的表达增加了两倍以上，第三个胎儿的水平正常。在这些胎儿的肌肉组织中未观察到过表达。
Human trisomy 13 (Patau syndrome) occurs in approximately 1 in 5,000 live births. It is compatible with life, but prolonged survival is rare. Anomalies often involve the urogenital, cardiac, craniofacial, and central nervous systems. It is possible that these abnormalities may be due to the overexpression of developmentally important genes on chromosome 13. The expression of esterase D (localized to chromosome 13q14.11) has been investigated in both muscle and kidney from trisomy 13 fetuses and has been compared with normal age- and sex-matched fetal tissues, by using northern analysis. More than a twofold increase in expression of esterase D was found in the kidney of two trisomy 13 fetuses, with normal levels in a third. Overexpression was not seen in the muscle tissues from these fetuses.