Jones A M, Malcolm S, Levinsky R J, Kinnon C
Molecular Immunology Unit, University of London, UK.
Hum Genet. 1993 Jun;91(5):485-8. doi: 10.1007/BF00217777.
A number of human disease genes have been localised to Xq12-21.1. A genetic map of this region has previously been constructed using family linkage studies and has been complemented by physical mapping studies using hybrid and deletion cell lines. We have constructed a preliminary long-range physical map of the region, which incorporates thirteen polymorphic and non-polymorphic probes, using pulsed field gel electrophoresis. The order of loci that can be inferred from all the genetic and physical mapping data is: cen-DXS133-[DXS153, DXS159]-DXS132-DXS135-[DXS131, DXS162]-[DXS325, DXS-347, DXS441]-PGK1-DXS447-DXS72-tel. The detection of several large non-overlapping MluI fragments by these probes implies that the minimum extent of the genomic DNA containing these loci is 16 Mb. This information should be useful in the eventual identification and isolation of the genes responsible for diseases that map to this region.
许多人类疾病基因已被定位到Xq12 - 21.1区域。此前已通过家族连锁研究构建了该区域的遗传图谱，并通过使用杂交细胞系和缺失细胞系的物理图谱研究对其进行了补充。我们使用脉冲场凝胶电泳构建了该区域的初步长程物理图谱，其中包含13个多态性和非多态性探针。从所有遗传和物理图谱数据中可以推断出的基因座顺序为：着丝粒 - DXS133 - [DXS153, DXS159] - DXS132 - DXS135 - [DXS131, DXS162] - [DXS325, DXS - 347, DXS441] - PGK1 - DXS447 - DXS72 - 端粒。这些探针检测到几个大的非重叠MluI片段，这意味着包含这些基因座的基因组DNA的最小范围是16兆碱基对。这些信息对于最终鉴定和分离定位于该区域的疾病相关基因应该是有用的。
