Allele-specific variation in the gene copy number of human cytosine 5-methyltransferase

作者：Franchina M; Kay PH^*

来源：Human Heredity, 2000, 50(2): 112-117.

DOI：10.1159/000022898

• human cytosine 5-methyltransferase
• gene copy number
• alleles
• segregation studies

Previously, we have identified two alternate allelic forms of cytosine 5-methyltransferase, 5-MT I and 5-MT II, specified by polymorphic fragments of 1.5 and 1.1 kb, respectively. In the presence study, a 0.8-kb genomic probe was prepared which was confirmed to be included within the polymorphic fragments. The 0.8-kb probe hybridised with greater intensity to the 1.1-kb fragment than the 1.5-kb fragment. Densitometric analysis indicated that there is 1 copy of 5-MT associated with 5-MT I, whereas there may be 1-4 copies of the gene associated with the 5-MT II allele. Segregation studies demonstrated that the multiple copies of 5-MT II are in herited in a Mendelian fashion. These results allow novel approaches to investigating the underlying mechanisms of cytosine methylation and gene duplication.

• 出版日期2000-4