Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.
Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.
复制标题
将与睑裂-下垂-内眦赘皮综合征相关的易位断点细化至染色体 3q23 处的 280 kb 间隔。
DOI：
10.1006/geno.1998.5512
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发表时间：
1998
期刊：
影响因子：
4.4
通讯作者：
M. Dixon
中科院分区：
文献类型：
--
作者：
C. Toomes;M. Dixon
小睑裂综合征（BPES）是一种常染色体显性遗传的颅面发育障碍性疾病，其特征包括小睑裂、上睑下垂和内眦赘皮。虽然它已被建议，BPES是遗传异质性的，这种情况的主要基因座位于染色体3q 23。我们先前已经将与BPES相关的易位断点定位到D3 S1316-D3 S1615区间。该区域中的标记随后被证明以不同的顺序存在，BPES基因座映射到1-cM D3 S1576和D3 S1316区间。在目前的调查中，一个物理图谱，包括60个酵母人工染色体（YAC）克隆和1个细菌人工染色体，跨越这一地区已建成。10个表达的序列标签和细胞视黄醇结合蛋白I位点已被映射到重叠群。YAC末端分离导致了新的STS的产生，这些STS已被用于将BPES关键区域的大小减少到280 kb的间隔，该间隔已在两个非嵌合YAC中克隆。
Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which include blepharophimosis, ptosis, and epicanthus inversus. Although it has been suggested that BPES is genetically heterogeneous, a major locus for this condition resides at chromosome 3q23. We have previously mapped a translocation breakpoint associated with BPES to the D3S1316-D3S1615 interval. The markers in this region have subsequently been shown to lie in a different order, with the BPES locus mapping to the 1-cM D3S1576 and D3S1316 interval. In the current investigation, a physical map, consisting of 60 yeast artificial chromosome (YAC) clones and 1 bacterial artificial chromosome, that spans this region has been constructed. Ten expressed sequence tags and the cellular retinol-binding protein I locus have been mapped to the contig. YAC end isolation has led to the creation of novel STSs that have been used to reduce the size of the BPES critical region to a 280-kb interval, which has been cloned in two nonchimeric YACs.
影响因子：
3.5
作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
通讯作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
影响因子：
10.5
作者：
VASSALLI, A;MATZUK, MM;JAENISCH, R
通讯作者：
JAENISCH, R