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通过种间杂交对人类异柠檬酸脱氢酶、苹果酸脱氢酶、磷酸甘油酸激酶、α-半乳糖苷酶、葡萄糖-6-磷酸脱氢酶基因的区域定位(作者译)

[Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)].

作者信息

Weil D, Van-Cong N, Finaz C, Rebourcet R, Cochet C, de Grouchy J, Frézal J

出版信息

Hum Genet. 1977 Apr 15;36(2):205-11. doi: 10.1007/BF00273259.

Abstract

22 independent man-hamster (HGPRT-) hybrids using male human cells with balanced reciprocal translocation t(X;2)(p22;q32) were analysed for human genes localized on chromosome 2 (IDHs, MDHs), on chromosome X (PGK, alphaGAL, G6PD) and for the different chromosomes in relation with the balanced reciprocal translocation (chr.2, chr.2q-, chr.Xp+). The following results were obtained: The chromosomes 2 and 2q- are absent in the 22 hybrids. In 9 hybrids, the absence of MDHs in spite of the presence of the chromosome Xp+ indicates that the gene for MDHs is not localized on this chromosome (or that the gene for MDHs is not on the segment 2q32--2qter translocated on X). In 14hybrids, the three markers of X (PGK, alphaGAL, G6PD) and IDHs are expressed in the presence of the chromosome Xp+. This result indicates that the genes for these markers are on Xp+ or that the genes PGK, alphaGAL, G6PD are on X without the Xp22--Xter segment, translocated on the chr.2, and that the gene for IDHs is on the 2q32--2qter segment translocated on X. In 8 hybrids, in the absence of the intack chromosome Xp+, the higher percentage of the presence of G6PD (7 hybrids) and the lower percentage of the presence of IDHs (3 hybrids) are explained by the fact that these hybrids selected in HAT medium had to retain a segment of Xp+ bearing the human gene HGPRT. G6PD appeared very close to HGPRT and IDHs very distant from HGPRT. The study of the different correlations between the presence and the absence of these four markers on Xp+ in the different hybrids indicates the following order on the chromosome Xp+ from p to q: IDHs -- PGK --alphaGAL -- G6PD.

摘要

使用携带平衡相互易位t(X;2)(p22;q32)的男性人类细胞构建了22个独立的人-仓鼠(HGPRT-)杂种细胞系,对定位于2号染色体(IDHs、MDHs)、X染色体(PGK、αGAL、G6PD)上的人类基因以及与平衡相互易位相关的不同染色体(2号染色体、2号染色体长臂缺失、X染色体短臂增加)进行了分析。得到以下结果:22个杂种细胞系中均不存在2号染色体和2号染色体长臂缺失。在9个杂种细胞系中,尽管存在X染色体短臂增加,但MDHs缺失,这表明MDHs基因不在该染色体上(或者MDHs基因不在易位到X染色体上的2q32 - 2q末端片段上)。在14个杂种细胞系中,X染色体的三个标记(PGK、αGAL、G6PD)和IDHs在存在X染色体短臂增加的情况下表达。这一结果表明,这些标记的基因位于X染色体短臂增加区域,或者PGK、αGAL、G6PD基因位于X染色体上但不包括易位到2号染色体上的Xp22 - X末端片段,而IDHs基因位于易位到X染色体上的2q32 - 2q末端片段。在8个杂种细胞系中,在不存在完整X染色体短臂增加的情况下,G6PD存在的比例较高(7个杂种细胞系),而IDHs存在的比例较低(3个杂种细胞系),这是因为在HAT培养基中选择的这些杂种细胞系必须保留携带人类基因HGPRT的X染色体短臂增加片段。G6PD似乎非常靠近HGPRT,而IDHs则远离HGPRT。对不同杂种细胞系中X染色体短臂增加区域上这四个标记的存在与缺失之间的不同相关性研究表明,在X染色体短臂增加区域上从p到q的顺序如下:IDHs - PGK - αGAL - G6PD。

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