Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints.
Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints.
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将脆弱位点 8E (FRA8E) 分配给人类染色体带 8q24.11，邻近遗传性多发性外生骨疣 1 基因和两个重叠的 Langer-Giedion 综合征缺失端点。
DOI：
10.1159/000134628
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Wells,DE
中科院分区：
文献类型：
--
作者：
Hill,A;Harada,Y;Takahashi,E;Hou,J;Wagner,MJ;Wells,DE
偏端霉素A诱导的脆性位点FRA 8 E，Fra（8）（q24. 11)之前被映射到8 q24。11，接近MYC基因，通过荧光原位杂交（Takahasi等，1991年）。已显示该脆弱位点存在于每140个健康日本个体中的约1个中（Takahasi等人，1988年）。为了更精确地定位FRA 8 E，我们使用了从Langer-Giedion染色体区域（LGCR）分离的cosmetry进行FISH分析。Langer-Giedion综合征（LGS）是一种以Sq 24染色体缺失为特征的连续基因综合征。11（Ludecke等人，1991年）。已知参与LGS病因学的基因之一是遗传性多发性外生骨疣1型（EXTl）。除了与LGS相关之外，遗传性多发性外生骨疣是一种独立的疾病，其特征在于在软骨内骨的近骺区域上的软骨帽外生骨疣（Hennekam，1991）。
The distamycin A inducible fragile site, FRA8E, Fra (8)(q24. 11) has been previously mapped to 8q24. 11, proximal to the MYC gene, by fluorescent in situ hybridization (Takahasi et al., 1991). This fragile site has been shown to be present in about 1 out of every 140 healthy Japanese individuals (Takahasi et al., 1988). To more precisely map FRA8E, we have used cosmids isolated from the Langer-Giedion chromosomal region (LGCR) for FISH analysis. Langer-Giedion syndrome (LGS) is a contiguous gene syndrome characterized by chromosome deletions in Sq24. 11 (Ludecke et al., 1991). One of the genes known to be involved in the etiology of LGS is hereditary multiple exostosis type 1 (EXTl). In addition to being associated with LGS, hereditary multiple exostosis is an independent disorder characterized by cartilage capped exostoses on the juxtaepiphyseal regions of the enchondral bones (Hennekam, 1991).