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首页> 外文期刊>Genomics >Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.
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Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.

机译：在3q23上关闭BPES基因：在45 kb粘粒中绘制de novo易位t（3; 4）（q23; p15.2）断点的图谱，并绘制三个候选基因RBP1，RBP2和beta'的图谱-COP，位于断点的远端。

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摘要

BPES is a genetic disorder presenting with blepharophimosis, ptosis of the eyelids, epicanthus inversus, and telecanthus. BPES type I is associated with female infertility, whereas type II presents without additional symptoms. Hitherto, it remains unknown whether BPES type I results from a defect in a single gene or from a contiguous gene syndrome. Previous cytogenetic and linkage analyses have assigned a BPES locus to 3q23, in a 5-cM interval between D3S1615 and D3S1316. In this report, we describe the molecular and physical characterization of the 3q23 breakpoint in a BPES patient with a t(3;4)(q23;p15.2) translocation. Eight YACs located around and within the D3S1615-D3S1316 interval were mapped relative to the 3q23 breakpoint; 5 YACs spanning the 3q23 breakpoint were identified. Thirteen STSs and ESTs were localized on the YAC map. Subsequent hybridization of 2 YACs spanning the breakpoint to the Human RPCI1 PAC Library and the Human Chromosome 3 LLNL Cosmid Library resulted in the identification of 12 PACs and 50 cosmids respectively, allowing the construction of a detailed PAC and cosmid physical map. A refined position-telomeric to the breakpoint-of 3 candidate genes, cellular retinol-binding proteins 1 and 2 (RBP1, RBP2) and the coatomer beta' subunit (beta'-COP), was obtained on this physical map. Furthermore, a PAC and cosmid contig encompassing the breakpoint was constructed. PAC 169-C 10 and cosmid 11-L 10 crossing the breakpoint have sizes of 110 and 45 kb, respectively. The isolation of coding sequences in these clones and in the rest of the contig will greatly facilitate further efforts toward positional cloning of the gene(s) involved in BPES. Copyright 1999 Academic Press.
机译：BPES是一种遗传性疾病，表现为睑缘上睑下垂，眼睑下垂，上epi反托和长can。 I型BPES与女性不育有关，而II型则没有其他症状。迄今为止，尚不清楚I型BPES是由单个基因的缺陷还是由邻近的基因综合征引起的。先前的细胞遗传学和连锁分析已在D3S1615和D3S1316之间的5-cM间隔中将BPES基因座分配给3q23。在本报告中，我们描述了tES（3; 4）（Q23; P15.2）易位的BPES患者3q23断裂点的分子和物理特征。相对于3q23断点，位于D3S1615-D3S1316区间周围和之内的八个YAC被映射;确定了跨越3q23断点的5个YAC。在YAC地图上定位了13个STS和EST。随后将跨越断点的2个YAC与人RPCI1 PAC库和人染色体3 LLNL粘粒库进行杂交，分别鉴定出12个PAC和50个粘粒，从而可以构建详细的PAC和粘粒物理图谱。在此物理图谱上获得了3个候选基因，细胞视黄醇结合蛋白1和2（RBP1，RBP2）和外壳聚体β'亚基（β'-COP）的断裂点的精确端粒。此外，构建了包含断点的PAC和粘粒重叠群。穿过断点的PAC 169-C 10和粘粒11-L 10的大小分别为110 kb和45 kb。在这些克隆和重叠群的其余部分中编码序列的分离将极大地促进进一步努力以定位克隆涉及BPES的基因。版权所有1999 Academic Press。

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