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人类X染色体(Xq26)次黄嘌呤-鸟嘌呤磷酸核糖转移酶(HPRT)基因区域的精细结构图谱

Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).

作者信息

Nicklas J A, Hunter T C, O'Neill J P, Albertini R J

机构信息

Department of Medicine, University of Vermont, Burlington.

出版信息

Am J Hum Genet. 1991 Aug;49(2):267-78.

Abstract

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.

摘要

X染色体的Xq26 - q27区域很有意思,因为该区域已定位了数量异常多的基因和匿名限制性片段长度多态性(RFLP)探针。许多研究已在家族中使用经典连锁分析来定位该区域。在此,我们使用已知全部或部分次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶(hprt)基因缺失的突变型人T淋巴细胞克隆,来对已知定位于Xq26的匿名探针进行排序。研究了57个T细胞克隆,包括44个源自体内突变的克隆和13个源自体外照射T淋巴细胞培养物的克隆。通过Southern印迹法检测了20个匿名探针(DXS10、DXS11、DXS19、DXS37、DXS42、DXS51、DXS53、DXS59、DXS79、DXS86、DXS92、DXS99、DXS100d、DXS102、DXS107、DXS144、DXS172、DXS174、DXS177和DNF1)与hprt基因的共缺失情况。其中5个探针(DXS10、DXS53、DXS79、DXS86和DXS177)在一些突变体中显示与hprt共缺失。这些突变体确定了以下探针相对于hprt基因的明确排序:DXS53 - DXS79 - 5'hprt3' - DXS86 - DXS10 - DXS177。着丝粒似乎定位于DXS53近端。这些定位对几个紧密连锁但先前未排序的探针进行了排序。此外,这些研究表明,在功能上为单倍体的X染色体上可能会发生相当大的缺失,同时仍保留T细胞活力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7782/1683319/7accb58c946f/ajhg00079-0024-a.jpg

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