IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA

摘要

The present invention relates to a nucleic acid molecule comprising a 5'portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributingto or indicative of the adult-type hypolactasia wherein said nucleic acidmolecule is selected from the group consisting of (a) a nucleic acid moleculehaving or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequenceof SEQ ID NO:1 is also depicted in the Fig. 4 and comprised in the sequence asdepicted in the Fig. 8; (b) a nucleic acid molecule having or comprising thenucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is alsodepicted in Fig.5 and comprised in the sequence as depicted in the Fig. 9; (c)a nucleic acid molecule of at least 20 nucleotides the complementary strand ofwhich hybridizes under stringent conditions to the nucleic acid molecule of(a) or (b), wherein said polynucleotide/nucleic acid molecule has at aposition corresponding to position -13910 5' from the LPH gene a cytosineresidue; and (d) a nucleic acid molecule of at least 20 nucleotides thecomplementary strand of which hybridizes under stringent conditions to thenucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acidmolecule has at a position corresponding to position -22018 5' from the LPHgene a guanine residue. The present invention further relates to methods fortesting for the presence of or predisposition to adult-type hypolactasia thatare based on the analysis of an SNP contained in the above recited nucleicacid molecule. Additionally, the present invention relates to diagnosticcomposition and kit useful in the detection of the presence of orpredisposition to adult-type hypolactasia.