Overhauser J, Mitchell H F, Zackai E H, Tick D B, Rojas K, Muenke M
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, USA.
Am J Hum Genet. 1995 Nov;57(5):1080-5.
Holoprosencephaly (HPE) is a common developmental defect that results in a spectrum of craniofacial malformations. HPE is genetically heterogeneous, some cases being associated with deletions of the short arm of chromosome 18. In order to map the putative HPE gene located on 18p (HPE4) more precisely, six patients with various cytogenetic 18p deletions and clinical features of HPE have been characterized by using a combination of somatic cell hybrid analysis and FISH. By using a set of 27 chromosome 18p-specific markers, the deletion in each patient was characterized. The HPE minimal critical region on 18p was defined on a molecular level, localizing the HPE4 gene to 18p11.3.
前脑无裂畸形（HPE）是一种常见的发育缺陷，可导致一系列颅面畸形。HPE在遗传上具有异质性，一些病例与18号染色体短臂缺失有关。为了更精确地定位位于18p上的假定HPE基因（HPE4），通过体细胞杂交分析和荧光原位杂交（FISH）相结合的方法，对6例具有各种细胞遗传学18p缺失和HPE临床特征的患者进行了特征分析。通过使用一组27个18号染色体p特异性标记，对每位患者的缺失情况进行了特征分析。在分子水平上定义了18p上的HPE最小关键区域，将HPE4基因定位到18p11.3。
