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 c...

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Bibliographic Details
Published in:Human heredity 1998-07, Vol.48 (4), p.226-229
Main Authors: Bagwe, Aparna N., Ahmed, Mohammed O., Franchina, M., Spagnolo, Dominic V., Papadimitriou, John M., Kay, Peter H.
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Breast Neoplasms - genetics
Deoxyribonucleases, Type II Site-Specific
DNA (Cytosine-5-)-Methyltransferases - genetics
DNA-Cytosine Methylases
Female
Gene Dosage
Gene Frequency
Gynecology. Andrology. Obstetrics
Humans
Introns
Lymphoma, Non-Hodgkin - genetics
Male
Mammary gland diseases
Medical sciences
Original Paper
Phenotype
Polymerase Chain Reaction - methods
Polymorphism, Restriction Fragment Length
Tumors
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Summary: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.
ISSN:0001-5652
1423-0062
DOI:10.1159/000022805