Pearson W R, Vorachek W R, Xu S J, Berger R, Hart I, Vannais D, Patterson D
Department of Biochemistry, University of Virginia, Charlottesville 22908.
Am J Hum Genet. 1993 Jul;53(1):220-33.
The GSTM1, GSTM2, GSTM3, GSTM4, and GSTM5 glutathione transferase genes have been mapped to human chromosome 1 by using locus-specific PCR primer pairs spanning exon 6, intron 6, and exon 7, as probes on DNA from human/hamster somatic cell hybrids. For GSTM1, the assignment was confirmed by Southern blot hybridization to a pair of 12.5/2.4-kb HindIII fragments. The GSTM1-specific primer pairs can be used to identify individuals carrying non-null GSTM1 alleles. The organization of these five genes was confirmed by the isolation of a yeast artificial chromosome clone (GSTM-YAC2) that contains all five genes. With this clone, the location of the GSTM1-GSTM5 gene cluster on chromosome 1 was confirmed by fluorescence in situ hybridization. Both regional assignment using the fractional length method and examination of probe signal with reference to R-banded chromosomes induced by BrdU places the gene cluster in or near the 1p13.3 region. The close physical proximity of the GSTM1 and GSTM2 loci, which share 99% nucleotide sequence identity over 460 nucleotides of 3'-untranslated mRNA, suggests that the GSTM1-null allele may result from unequal crossing-over.
利用跨越外显子6、内含子6和外显子7的位点特异性PCR引物对作为人/仓鼠体细胞杂种DNA的探针，已将谷胱甘肽S-转移酶基因GSTM1、GSTM2、GSTM3、GSTM4和GSTM5定位到人类1号染色体上。对于GSTM1，通过与一对12.5/2.4 kb HindIII片段的Southern印迹杂交证实了其定位。GSTM1特异性引物对可用于鉴定携带非无效GSTM1等位基因的个体。通过分离包含所有五个基因的酵母人工染色体克隆（GSTM-YAC2），证实了这五个基因的组织情况。利用该克隆，通过荧光原位杂交证实了GSTM1 - GSTM5基因簇在1号染色体上的位置。使用分数长度法进行的区域定位以及参照BrdU诱导的R带染色体对探针信号的检查均将该基因簇定位在1p13.3区域或其附近。GSTM1和GSTM2基因座在物理上紧密相邻，它们在3'-非翻译mRNA的460个核苷酸上具有99%的核苷酸序列同一性，这表明GSTM1无效等位基因可能是由不等交换产生的。
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