Abstract: The present invention relates to a nucleic acid molecule comprising a 5? portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.

Abstract: The present invention relates to a nucleic acid molecule comprising a 5? portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.

Abstract: The present invention relates to a nucleic acid molecule comprising a 5? portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.

Abstract: APECED (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) is the only described systemic autoimmune disease with monogenic background. We have isolated a novel polynucleotide in chromosome 21q22.3 and identified five different mutations APECED patients originating from different populations. We named polypeptide, which is encoded by the said polynucleotide, APGD1 (i.e., autoimmune polyglandular disease type 1). The APGD1 polypeptide consists of 545 amino acid residues comprising two Cys(4)-His-Cys(3) double-paired finger motif similar to the PHD finger domains (zinc finger-like motifs). The identification of the polynucleotide facilitates direct genetic diagnosis of APECED and provides tools for dissection of the molecular pathogenesis of the disease.

Abstract: The present invention relates to a nucleic acid molecule comprising a 5′ portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia wherein said nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequence of SEQ ID NO:1 is also depicted in FIG. 4 and comprised in the sequence as depicted in FIG. 8; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is also depicted in FIG. 5 and comprised in the sequence as depicted in FIG.

Abstract: The invention provides a method and expression system for enhancing secretion of hyperproduced homologous and heterologous exoproteins in gram-positive bacteria such as Bacillus sp. The method and system comprise overproduction of PrsA protein in a gram-positive bacterial host also overproducing at least one exoprotein of interest. Use of the method and system of the invention results in greatly enhanced secretion of the synthesized exoproteins into the growth medium. Once in the growth medium these secreted exoproteins can be recovered and purified in a straightforward manner.

Abstract: The invention provides a method and expression system for enhancing secretion of hyperproduced homologous and heterologous exoproteins in gram-positive bacteria such as Bacillus sp. The method and system comprise overproduction of PrsA protein in gram-positive bacterial host capable of also overproducing at least one exoprotein of interest. Use of the method and system of the invention results in greatly enhanced secretion of the synthesized exoproteins into the growth medium. Once in the growth medium these secreted exoproteins can be recovered and purified in a straightforward manner.

Abstract: The invention relates to recombinant DNA molecules and to methods for producing proteins by means of said molecules. Particularly, the present invention relates to recombinant DNA molecules which are capable of being synthesized in Bacillus strain bacteria comprising the regulation and deleted non-functional signal sequence of the a-amylase gene of B. amyloliquefaciens, or a substantial part thereof, to which sequence a structural gene of any desired homologous or heterologous protein or peptide may be joined. These recombinant DNA molecules can be used, for example, to achieve intracellular expression of any desired protein or peptide in Bacillus strain bacteria.