A novel MspI PCR-RFLP in the human cytosine 5-methyltransferase gene: Lack of relevance for malignant lymphoproliferative disease and breast cancer

作者：Bagwe AN; Ahmed MO; Franchina M; Spagnolo DV; Papadimitriou JM; Kay PH^*

来源：Human Heredity, 1998, 48(4): 226-229.

DOI：10.1159/000022805

• human cytosine 5-methyltransferase
• polymorphism
• MspI site
• intron
• malignancy

Two alternate allelic forms of human cytosine 5-methyltransferase, 5-MT I and 5-MT II, which differ by the absence or presence of an intronic MspI recognition sequence, have been recognised, The polymorphic region was localised using a series of subprobes prepared upon MspI digestion of the 2.5-kb cDNA probe (hmt-2.5). A PCR-based method was then developed for rapid 5-MT genotyping, The gene and phenotype frequencies of 5-MT I and 5-MT II were not significantly different in genomic DNA samples from a series of non-Hodgkin's lymphomas and breast cancer cases compared with DNA from normal subjects, Allelism of 5-MT allows new approaches to the assessment of variation in gene copy number of 5-MT in different types of neoplasia.

• 出版日期1998-8