A novel MspI PCR-RFLP in the human cytosine 5-methyltransferase gene: lack of relevance for malignant lymphoproliferative disease and breast cancer.
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.
Department of Pathology, The University of Western Australia, Perth, Australia.
A N
AN
Bagwe
M O
MO
Ahmed
M
M
Franchina
D V
DV
Spagnolo
J M
JM
Papadimitriou
P H
PH
Kay
D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D015257:DNA-Cytosine Methylases; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics*; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length
D015257:DNA-Cytosine Methylases; D004248:DNA (Cytosine-5-)-Methyltransferases; D015252:Deoxyribonucleases, Type II Site-Specific