The present invention relates to a
nucleic acid molecule that causes or indicates human-type intestinal
lactase deficiency and comprises the 5' portion of the intestinal
lactase-
phlorizin hydrolase (LPH)
gene, the
nucleic acid molecule being selected from the group consisting of: (a) having or comprising SEQ The
nucleic acid molecule of the
nucleic acid sequence of ID NO:1, the sequence of SEQ ID NO:1 is also described in Figure 4 and is included in the sequence described in Figure 8; (b) has or comprises the nucleic acid of the
nucleic acid sequence of SEQ ID NO:2 Molecule, the sequence of SEQ ID NO: 2 is also described in Figure 5 and is included in the sequence described in Figure 9; (c) a
nucleic acid molecule of at least 20 nucleotides, the complementary strand of which is under stringent conditions with (a ) or (b)
nucleic acid molecule hybridization, wherein said
polynucleotide /
nucleic acid molecule has a
cytosine residue at a position corresponding to the 5'-13910 position of the LPH
gene; and (d) at least 20 nucleosides A nucleic
acid molecule of acid, the complementary strand of the nucleic
acid molecule hybridizes with the nucleic
acid molecule of (a) or (b) under stringent conditions, wherein said
polynucleotide / nucleic acid molecule is at the 5'-22018 site corresponding to the LPH
gene There is a
guanine residue in the position. The present invention also relates to a method for testing the presence or susceptibility of human-type intestinal
lactase deficiency based on the analysis of the SNPs contained in the above-mentioned nucleic acid molecules. Furthermore, the present invention relates to diagnostic compositions and kits for detecting the presence or susceptibility to human-type intestinal lactase deficiency.