POLIMORFISMO DEL GENE HMGA1, METODO DI INDIVIDUAZIONE E METODO DI DIAGNOSI GENETICA DI INSULINO-RESISTENZA E/O DIABETE MELLITO DI TIPO 2

摘要

Method for detection of HMGAl (high mobility group Al) gene polymorphism, consisting of an heterozygous single-nucleotide C insertion at position -13 of exon 6 (C.136-14_136-13insC), wherein: a) a DNA sample of the proband subject is extracted; b) it is amplified by PCR (Polymerase Chain Reaction) using specific primers; c) it is then sequenced by means of the same primers and a diagnostic method of determining whether an individual has an increased risk of developing insulin resistance and/or type 2 diabetes mellitus comprising the steps of: a) obtaining a biological sample comprising a nucleic acid (DNA) from said individual; b) amplifying a region of said HMGAl (high mobility group Al) in said DNA comprising said polymorphic site, and c) detecting the presence or absence of the HMGAl nucleotide sequence variant in said sample to obtain a variant profile of said individual, wherein said nucleotide sequence variant is at position -13 of exon 6 (C.136-14_136-13insC).