Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
复制标题
次黄嘌呤磷酸核糖转移酶和葡萄糖-6-磷酸脱氢酶基因座的定位以及来自人类 X 常染色体易位研究的非随机 X 染色体表达的生化证据。
DOI：
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发表时间：
1980
影响因子：
11.1
通讯作者：
B. Migeon
中科院分区：
文献类型：
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作者：
G. Pai;J. A. Sprenkle;T. T. Do;C. Mareni;B. Migeon
我们报告了一个独特而复杂的核型重排涉及染色体X，3，7和21。先证者的血细胞和成纤维细胞不表达葡萄糖-6-磷酸脱氢酶（G6 PD）的母体等位基因，这为平衡X常染色体易位中X连锁基因的非随机表达提供了生化证据。X染色体上的断裂点位于Xq 27-Xq 28的连接处，将次黄嘌呤磷酸核糖基转移酶（HPRT）和G6 PD的基因座分开。来自先证者细胞的小鼠-人杂交的研究表明，在q28处的G6 PD明显远离现在分配的所有其他X基因座。根据这些和以前的研究，我们可以将HPRT定位于Xq 26和Xq 27之间的片段。这些研究还为杂交细胞中失活X表型的稳定性提供了进一步的证据。
We report a unique and complex karyotypic rearrangement involving chromosomes X, 3, 7, and 21. Blood cells and fibroblasts from the proband do not express the maternal allele for glucose-6-phosphate dehydrogenase (G6PD), providing biochemical evidence for nonrandom expression of X-linked genes in balanced X-autosome translocations. The break point on the X chromosome, at the junction of Xq27-Xq28, separates the loci for hypoxanthine phosphoribosyltransferase (HPRT) and G6PD. Studies of mouse-human hybrids derived from the proband's cells indicate that G6PD, at q28, is clearly distal to all other X loci now assigned. From these and previous studies, we can localize HPRT to that segment between Xq26 and Xq27. The studies also provide further evidence for the stability of the inactive X phenotype in hybrid cells.