Method and kit for diagnosing growth hormone dysfunction by determining SNP haplotypes of the proximal promoter region of the gene GH1

摘要

Described are variants of the human growth factor gene (GH1, located on chromosome 17q23 within a 66 kb cluster of five related genes) and, in particular, variants in the proximal promoter region thereof. Moreover, the interaction of the variants is described and how the interaction affects growth hormone expression. The proximal region of the GH1 gene promoter exhibits a high level of sequence variation in single nucleotides polymorphisms (SNPs) within a 535 base-pair pair stretch. The functional importance of the polymorphic variation has been assessed in both the proximal promoter region and the Locus Control Region (LCR) of the GH1 gene.