人类类固醇硫酸酯酶基因座周围的长程物理图谱。

Long-range physical mapping around the human steroid sulfatase locus.

作者信息

Ross M T, Ballabio A, Craig I W

机构信息

Genetics Laboratory, Department of Biochemistry, Oxford, United Kingdom.

出版信息

Genomics. 1990 Mar;6(3):528-39. doi: 10.1016/0888-7543(90)90482-a.

DOI:10.1016/0888-7543(90)90482-a

PMID:2328992

Abstract

The region of the human X chromosome containing the steroid sulfatase locus was analyzed by pulsed-field gel electrophoresis. Restriction site maps were generated for the X chromosome in the blood of a normal male individual and that in the mouse-human hybrid cell line ThyB-X; these maps extend over approximately 4.3 Mb of DNA of the former, and 3.2 Mb of the latter. Physical linkage was defined between the STS locus and sequences detected by the probes GMGX9 (DXS237), GMGXY19 (DYS74), CRI-S232 (DXS278), and dic56 (DXS143), and the order telomere--(STS, DYS74)--DXS237--DXS278--DXS143--centromere was deduced. The pulsed-field maps were used to demonstrate a deletion of 180 kb of DNA from the X chromosome of an individual with X-linked ichthyosis. Also, possible locations for the Kallmann syndrome gene were revealed, and the distance between the steroid sulfatase locus and the pseudoautosomal region was estimated to be at least 4 Mb.

摘要

通过脉冲场凝胶电泳分析了人类X染色体上包含类固醇硫酸酯酶基因座的区域。构建了正常男性个体血液中的X染色体以及小鼠 - 人类杂交细胞系ThyB - X中的X染色体的限制性酶切位点图谱；这些图谱分别覆盖了前者约4.3 Mb的DNA和后者3.2 Mb的DNA。确定了STS基因座与探针GMGX9（DXS237）、GMGXY19（DYS74）、CRI - S232（DXS278）和dic56（DXS143）检测到的序列之间的物理连锁关系，并推断出端粒 - （STS，DYS74） - DXS237 - DXS278 - DXS143 - 着丝粒的顺序。利用脉冲场图谱证实了一名患有X连锁鱼鳞病个体的X染色体上缺失了180 kb的DNA。此外，还揭示了卡尔曼综合征基因的可能位置，并且类固醇硫酸酯酶基因座与假常染色体区域之间的距离估计至少为4 Mb。