McBride O W, Mitchell A, Lee B J, Mullenbach G, Hatfield D
Laboratory of Biochemistry, National Cancer Institute, Bethesda, MD 20892.
Biofactors. 1988 Dec;1(4):285-92.
A human glutathione peroxidase cDNA has been used as a probe to hybridize to DNAs isolated from human - rodent somatic cell hybrids that have segregated human chromosomes. A 609 bp probe which contains the entire coding region hybridizes to human chromosomes 3, 21 and Xp. Fragments of the cDNA coding sequence and of the 3' untranslated region were also used as probes. These fragments hybridized to each of the three chromosomes with the same efficiency, suggesting similarity between the loci, whereas an intronic probe detected only the gene on chromosome 3. The general organization of each gene was determined from the hybridization data. The data suggest that the locus on chromosome 3 is a functional gene containing a single intron and a pattern of restriction sites identical to those found in the cDNA coding sequence. The data also suggest that the sequences on chromosomes X and 21 have equal conservation of the 3' untranslated and coding sequences but do not contain introns, providing evidence that the latter two sequences are processed pseudogenes. A simple two allele polymorphism in PvuII digests was detected at the locus on chromosome 21.
一个人类谷胱甘肽过氧化物酶cDNA已被用作探针,与从已分离出人类染色体的人-啮齿动物体细胞杂种中分离的DNA进行杂交。一个包含完整编码区的609 bp探针与人类染色体3、21和Xp杂交。cDNA编码序列片段和3'非翻译区片段也被用作探针。这些片段以相同的效率与三条染色体中的每一条杂交,表明这些位点之间具有相似性,而一个内含子探针仅检测到染色体3上的基因。每个基因的总体结构由杂交数据确定。数据表明,染色体3上的位点是一个功能基因,包含一个单一内含子和与cDNA编码序列中发现的限制性位点模式相同的模式。数据还表明,X染色体和21号染色体上的序列在3'非翻译区和编码序列方面具有相同程度的保守性,但不包含内含子,这证明后两个序列是加工假基因。在21号染色体上的位点检测到PvuII消化中的一个简单双等位基因多态性。