Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism.
Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism.
复制标题
不同数量的胃蛋白酶原基因位于人类 11 号染色体的着丝粒区域，并决定了高频电泳多态性。
DOI：
10.1073/pnas.82.18.6240
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发表时间：
1985
影响因子：
11.1
通讯作者：
Bell,GI
中科院分区：
文献类型：
--
作者：
Taggart,RT;Mohandas,TK;Shows,TB;Bell,GI
用克隆的人胃蛋白酶原cDNA探针分析了一组含有不同人类染色体互补序列的26个小鼠-人类体细胞杂交体，以确定编码这些蛋白质的基因的染色体位置和数量。含有可变数目的胃蛋白酶原基因的复合物定位于人类11号染色体的着丝粒区（p11-q13）。检查含有11号染色体和相应的人类亲本细胞系的单拷贝的体细胞杂种揭示了由胃蛋白酶原单倍型，分别含有两个或三个基因的限制性片段长度多态性。与外显子特异性探针表现出最常见的胃蛋白酶原电泳表型的个体的DNA的并行研究表明，在不同的限制性片段模式之间的一个基因的情况下，与一个特定的同工酶的情况下（第5页）。因此，我们的研究表明，这种涉及个体胃蛋白酶原同工酶强度变化的遗传多态性是由含有不同数量基因的染色体单倍型引起的。该多态性基因复合体的区域定位将有助于人类11号染色体的详细连锁分析。
A panel of 26 mouse-human somatic cell hybrids containing different human chromosome complements was analyzed with a cloned human pepsinogen cDNA probe to determine the chromosomal location and the number of genes encoding these proteins. A complex containing variable numbers of pepsinogen genes was localized to the centromeric region of human chromosome 11 (p11----q13). Examination of somatic cell hybrids containing single copies of chromosome 11 and the corresponding human parental cell lines revealed a restriction fragment length polymorphism determined by pepsinogen haplotypes that contained two or three genes, respectively. Concurrent studies of DNA from individuals exhibiting the most common pepsinogen electrophoretic phenotypes with exon-specific probes demonstrated that the absence of one gene among the different restriction fragment patterns correlated with the absence of one specific isozymogen (Pg 5). Thus, our studies demonstrate that this genetic polymorphism involving intensity variation of individual pepsinogen isozymogens results from chromosome haplotypes that contain different numbers of genes. The regional localization of this polymorphic gene complex will facilitate detailed linkage analysis of human chromosome 11.