Heisterkamp N, Groffen J
Division of Medical Genetics, Children's Hospital of Los Angeles, CA 90027.
Nucleic Acids Res. 1988 Aug 25;16(16):8045-56. doi: 10.1093/nar/16.16.8045.
The Philadelphia (Ph') translocation involves rearrangement of the bcr gene located on chromosome 22. Hybridization experiments revealed the presence of multiple bcr gene-related loci within the human genome. Two of these were molecularly cloned and characterized. Both loci contain exons and introns corresponding to the 3' region of the bcr gene. Restriction enzyme and DNA sequence analysis indicate a very high degree of conservation between bcr and the two related genomic sequences. Both bcr-related loci are located on chromosome 22, one centromeric, the other telomeric, of the bcr gene. Within the two bcr related genomic sequences, fragments or the complete coding sequences of an unrelated gene were found to be present. This gene was identified; it encodes gamma-glutamyl transferase, an enzyme involved in the glutathione metabolism.
费城（Ph'）易位涉及位于22号染色体上的bcr基因重排。杂交实验揭示了人类基因组中存在多个与bcr基因相关的位点。其中两个位点进行了分子克隆和表征。这两个位点都包含与bcr基因3'区域相对应的外显子和内含子。限制性内切酶和DNA序列分析表明bcr与两个相关基因组序列之间具有高度的保守性。两个与bcr相关的位点都位于22号染色体上，一个在bcr基因的着丝粒侧，另一个在端粒侧。在两个与bcr相关的基因组序列中，发现存在一个不相关基因的片段或完整编码序列。该基因已被鉴定；它编码γ-谷氨酰转移酶，一种参与谷胱甘肽代谢的酶。
