Eves E M, Farber R A
Somatic Cell Genet. 1983 Nov;9(6):771-8. doi: 10.1007/BF01539479.
Karyotypes of recessive mutants at the autosomal adenine phosphoribosyltransferase (Aprt) locus in a clone of the near-diploid mouse CAK cell line have been analyzed. The Aprt located on chromosome 8. One copy of chromosome 8 was morphologically abnormal in the parental clone (CAK-B3-Toyr13) from which Aprt- mutants were isolated. Among 22 mutants, there were ten in which one copy of chromosome 8 had been lost. Four of these were monosomic, and in the others duplication of the remaining homolog had occurred. These findings indicate that newly induced recessive mutations in cultured mammalian cells can be expressed as the result of loss of one chromosome carrying a wild-type allele with or without duplication of the homolog carrying the mutant allele. Loss and duplication would not be detected in cell lines lacking morphologically marked chromosomes.
对近二倍体小鼠CAK细胞系克隆中常染色体腺嘌呤磷酸核糖转移酶（Aprt）位点隐性突变体的核型进行了分析。Aprt位于8号染色体上。在分离出Aprt-突变体的亲本克隆（CAK-B3-Toyr13）中，一条8号染色体在形态上异常。在22个突变体中，有10个突变体的一条8号染色体丢失。其中4个是单体，其他的则发生了剩余同源染色体的重复。这些发现表明，培养的哺乳动物细胞中新诱导的隐性突变可表现为携带野生型等位基因的一条染色体丢失的结果，无论是否伴有携带突变等位基因的同源染色体重复。在缺乏形态学标记染色体的细胞系中无法检测到丢失和重复。
