Dermatology Medical News about Melanoma, Mdm2, polymorphism

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Germline analysis of thymidine/guanidine polymorphism at position 309 of the Mdm2 promoter in malignant melanoma patients
Melanoma Research, 07/24/09

Catane R et al. - Data suggest that the single nucleotide polymorphism (SNP) G309 in the Mdm2 (negative regulator of p53) promoter might be an important genetic predisposing factor, and possibly the molecular mechanism of disease in malignant melanoma (MM). Results must be confirmed in a larger cohort of MM patients and controls.

Methods

SNP at position 309 of the Mdm2 promoter correlates with increased Mdm2 levels and reduced p53 activation
This study aimed to estimate the prevalence of G309 in MM pts
Genomic DNA was collected from a cohort of 28 MM pts of various clinical stages
Relevant DNA stretch was sequenced and thymidine/guanidine polymorphism at position 309 of Mdm2 promoter was examined
Resultant frequencies with the frequencies reported in the literature for the general population were compared

Results

G allele frequency in the cohort of MM pts was 0.518
This frequency was higher as compared to the reported frequency of 0.351 in Caucasian healthy populations
It was also higher than a G allele frequency of 0.464 reported for Ashkenazi Jewish women, although not statistically significant

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