首页> 美国卫生研究院文献>American Journal of Human Genetics >Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).
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Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).

机译:人X染色体(Xq26)的次黄嘌呤-鸟嘌呤磷酸核糖基转移酶(HPRT)基因区域的精细结构图。

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摘要

The Xq26-q27 region of the X chromosome is interesting, as an unusually large number of genes and anonymous RFLP probes have been mapped in this area. A number of studies have used classical linkage analysis in families to map this region. Here, we use mutant human T-lymphocyte clones known to be deleted for all or part of the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene, to order anonymous probes known to map to Xq26. Fifty-seven T-cell clones were studied, including 44 derived from in vivo mutation and 13 from in vitro irradiated T-lymphocyte cultures. Twenty anonymous probes (DXS10, DXS11, DXS19, DXS37, DXS42, DXS51, DXS53, DXS59, DXS79, DXS86, DXS92, DXS99, DXS100d, DXS102, DXS107, DXS144, DXS172, DXS174, DXS177, and DNF1) were tested for codeletion with the hprt gene by Southern blotting methods. Five of these probes (DXS10, DXS53, DXS79, DXS86 and DXS177) showed codeletion with hprt in some mutants. The mutants established the following unambiguous ordering of the probes relative to the hprt gene: DXS53-DXS79-5'hprt3'-DXS86-DXS10-DXS177 . The centromere appears to map proximal to DXS53. These mappings order several closely linked but previously unordered probes. In addition, these studies indicate that rather large deletions of the functionally haploid X chromosome can occur while still retaining T-cell viability.
机译:X染色体的Xq26-q27区域很有趣,因为已经在该区域绘制了异常大量的基因和匿名RFLP探针。许多研究已在家庭中使用经典连锁分析来绘制该区域的地图。在这里,我们使用已知为次黄嘌呤-鸟嘌呤磷酸核糖基转移酶(hprt)基因的全部或部分缺失的突变型人T淋巴细胞克隆,订购已知映射到Xq26的匿名探针。研究了57个T细胞克隆,包括44个来自体内突变的克隆和13个来自体外照射的T淋巴细胞培养物。测试了20个匿名探针(DXS10,DXS11,DXS19,DXS37,DXS42,DXS51,DXS53,DXS59,DXS79,DXS86,DXS92,DXS99,DXS100d,DXS102,DXS107,DXS144,DXS172和DXS177 hprt基因通过Southern印迹法检测。这些探针中的五个(DXS10,DXS53,DXS79,DXS86和DXS177)在某些突变体中显示了hprt的密码缺失。突变体相对于hprt基因建立了以下明确的探针顺序:DXS53-DXS79-5'hprt3'-DXS86-DXS10-DXS177。着丝粒似乎位于DXS53的近端。这些映射对几个紧密链接但以前未排序的探针进行排序。此外,这些研究表明,在仍然保留T细胞活力的同时,功能性单倍体X染色体可能发生相当大的缺失。

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