Nicolaides N C, Carter K C, Shell B K, Papadopoulos N, Vogelstein B, Kinzler K W
Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA.
Genomics. 1995 Nov 20;30(2):195-206. doi: 10.1006/geno.1995.9885.
The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form. We have here characterized the genomic structure of the hPMS2 gene to facilitate its analysis in HNPCC kindreds. The hPMS2 genomic locus was found to encompass 16 kb and consist of 15 exons. During its analysis, we identified a family of hPMS2-related genes located on chromosome 7 at bands 7p12-p13, 7q11, and 7q22. Exons 1 through 5 of these homologs shared a high degree of identity with hPMS2. We present the sequence of seven novel genes that represent the hPMSR (hPMS2-related) gene family. The similarity and number of these genes made specific amplification of hPMS2 problematic, but knowledge of them aided the successful design of oligonucleotides for this purpose.
hPMS2基因（HGMW批准符号为PMS2）编码一种MutL同源物，当以突变形式遗传时会导致遗传性非息肉病性结直肠癌（HNPCC）。我们在此对hPMS2基因的基因组结构进行了表征，以便于在HNPCC家系中对其进行分析。发现hPMS2基因组位点包含16 kb，由15个外显子组成。在分析过程中，我们在7号染色体的7p12 - p13、7q11和7q22带区鉴定出一个与hPMS2相关的基因家族。这些同源物的外显子1至5与hPMS2具有高度同源性。我们展示了代表hPMSR（hPMS2相关）基因家族的七个新基因的序列。这些基因的相似性和数量使得hPMS2的特异性扩增存在问题，但对它们的了解有助于为此目的成功设计寡核苷酸。
