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首页> 外文期刊>Genomics >A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.
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A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.

机译：膀胱萎缩症患者的相互易位46，XY，t（8; 9）（p11.2; q13）破坏CNTNAP3并显示9号染色体上着重于中心的复制的证据。

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摘要

A patient with sporadic bladder exstrophy and de novo apparently balanced chromosomal translocation 46,XY,t(8;9)(p11.2;q13) was analyzed by fluorescence in situ hybridization (FISH) and molecular methods. We were able to map both translocation breakpoints to single genomic clones. The chromosome 8p11.2 breakpoint was mapped to BAC clone RP4-547J18, predicted to contain several hypothetical genes. Characterization of the chromosome 9q13 breakpoint indicated a disruption in the 5' region of CNTNAP3 within BAC RP11-292B8. This observation suggests possible involvement of CNTNAP3 in the etiology of bladder exstrophy. Additionally, FISH analysis identified several genomic copies of CNTNAP3 on both sides of the chromosome 9 centromere flanking the polymorphic heterochromatin. Northern blot analysis of lymphoblast and bladder RNA confirmed CNTNAP3 transcripts in these tissues and did not show abnormal CNTNAP3 expression in the proband and two unrelated patients with bladder exstrophy. The identification of multiple copies of three BAC clones in the proband, his parents, and unrelated controls suggests that duplications of CNTNAP3 and the surrounding genomic region have occurred as a result of repeated events of unequal crossing over and pericentric inversions during chromosome 9 evolution.
机译：通过荧光原位杂交（FISH）和分子方法分析了散发性膀胱萎缩和从头出现明显平衡的染色体易位46，XY，t（8; 9）（p11.2; q13）的患者。我们能够将两个易位断点映射到单个基因组克隆。染色体8p11.2断点被定位到BAC克隆RP4-547J18，预计包含几个假设基因。 9q13染色体断裂点的特征表明BAC RP11-292B8中CNTNAP3的5'区域被破坏。该观察结果提示CNTNAP3可能与膀胱萎缩的病因有关。另外，FISH分析鉴定了在多态异染色质侧翼的9号染色体着丝粒两侧的CNTNAP3的几个基因组拷贝。淋巴母细胞和膀胱RNA的Northern印迹分析证实了这些组织中的CNTNAP3转录本，在先证者和两名无亲缘关系的膀胱萎缩患者中未显示CNTNAP3表达异常。在先证者，他的父母和不相关的对照中鉴定出三个BAC克隆的多个拷贝，这表明CNTNAP3和周围基因组区域的重复是由于9号染色体进化过程中反复发生的不相等的交叠和周向倒位事件造成的。

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