An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.
An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.
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8q22-q24 的综合物理图谱：用于 Langer-Giedion 综合征的位置克隆和缺失分析。
DOI：
10.1006/geno.2000.6438
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Wells,DE
中科院分区：
文献类型：
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作者：
Hilton,MJ;Gutierrez,L;Zhang,L;Moreno,PA;Reddy,M;Brown,N;Tan,Y;Hill,A;Wells,DE
我们已经开发了一个综合地图的35 cM区域的人类8号染色体周围的Langer-Giedion综合征缺失区。该图谱的范围从8 q22到8 q24，包括10个杂交细胞间隔、89个多态性STS、118个EST和37个已知基因或推断的基因同源性。包括骨保护素，syndecan-2，和autotaxin的25个基因的地图位置已从以前报道的一般位置进行了改进。此外，该地图已被用来指示9个缺失的位置在患者的朗格-吉二氏综合征和毛鼻指综合征I型，以证明潜在的有用性的地图在分析这些复杂的综合征。该图谱也将对任何试图在该区域定位克隆疾病基因的人感兴趣，例如科恩综合征（8 q22-q23），Klip-Feil综合征（8q22.2），遗传性痉挛性截瘫（8 q24）和良性成人家族性肌阵挛性癫痫（8q23.3-q24.1）。
We have developed an integrated map for a 35-cM area of human chromosome 8 surrounding the Langer–Giedion syndrome deletion region. This map spans from approximately 8q22 to 8q24 and includes 10 hybrid cell intervals, 89 polymorphic STSs, 118 ESTs, and 37 known genes or inferred gene homologies. The map locations of 25 genes including osteoprotegerin, syndecan-2, and autotaxin have been refined from the general locations previously reported. In addition, the map has been used to indicate the location of nine deletions in patients with Langer–Giedion syndrome and trichorhinophalangeal syndrome type I to demonstrate the potential usefulness of the map in the analysis of these complex syndromes. The map will also be of interest to anyone trying to clone positionally disease genes in this region, such as Cohen syndrome (8q22–q23), Klip-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult familial myoclonic epilepsy (8q23.3–q24.1).