Petek E, Kroisel P M, Wagner K
Institute of Medical Biology and Human Genetics, University of Graz, Austria.
Clin Genet. 1998 Nov;54(5):406-12. doi: 10.1111/j.1399-0004.1998.tb03754.x.
Holoprosencephaly (HPE) is a common developmental defect involving the brain and face. HPE is extremely heterogeneous, some cases being associated with structural anomalies of the short arm of chromosome 3. For a detailed characterization of a t(3;19)(p14.1;p13.1) breakpoint associated with HPE, we performed fluorescence in situ hybridization (FISH) analysis using yeast artificial chromosomes (YACs) mapped to the short arm of chromosome 3 from the Le Centre d'Etude du Polymorphisme Humain (CEPH) library. Three YACs mapped proximal, and one was located distal to the described breakpoint on chromosome 3. One of the chromosome 3 'Mega-YACs' spanned the translocation breakpoint. From this chimeric YAC we generated a site specific probe of about 370 kb by digestion of the YAC-DNA, which will be assessed for gene alterations that could underlie HPE in this patient.
前脑无裂畸形（HPE）是一种常见的涉及脑和面部的发育缺陷。HPE具有极高的异质性，部分病例与3号染色体短臂的结构异常相关。为了详细表征与HPE相关的t(3;19)(p14.1;p13.1)断点，我们使用了来自人类多态性研究中心（CEPH）文库中定位到3号染色体短臂的酵母人工染色体（YAC）进行荧光原位杂交（FISH）分析。三个YAC定位在近端，一个位于3号染色体上所述断点的远端。3号染色体的一个“巨型YAC”跨越了易位断点。通过对该嵌合YAC的YAC-DNA进行消化，我们产生了一个约370 kb的位点特异性探针，该探针将用于评估可能是该患者HPE潜在原因的基因改变。
