HAPLOTYPE PARTITIONING IN THE PROXIMAL PROMOTER OF THE HUMAN GROWTH HORMONE(GH1) GENE TO DIAGNOSE GROWTH HORMONE DYSFUNCTION

摘要

PURPOSE: Haplotype partitioning in the proximal promoter of the human growth hormone(gh1) gene is provided which is useful for diagnosis of the existence of, or a susceptibility to, growth hormone dysfunction. CONSTITUTION: A method for diagnosing the existence of, or a susceptibility to, growth hormone dysfunction in an individual comprises the steps of: (a) obtaining a test sample of a nucleic acid molecule encoding the proximal promoter region of the growth hormone gene(GH1) from an individual to be tested; (b) examining the nucleic acid molecule for a plurality of the following six SNP's: 1, 6, 7, 9, 11 and 14 (described in Table 1), or the corresponding haplotypes thereof (also described in Table 1); or a polymorphism in linkage disequilibrium therewith; and (c) where a plurality of the SNP's, or their the corresponding haplotypes, or their the corresponding polymorphisms, exist determining that the individual may be suffering from, or has a susceptibility to, growth hormone dysfunction, wherein the polymorphism is at 114 of the locus control region of the gene; and the polymorphism is at 1194 of the locus control region of the gene.