Universitatsklinikum Munster

Universitaesklinikum Muenster

Volker Gerke

Jürgen Horst

Nadja Bogdanova

Arseni Markov

Arseni Markoff

Nadja Markoff

The present invention relates to a nucleic acid molecule comprising an annexin A5 (ANXA5) gene regulation element which comprises at least one point mutation corresponding to nucleotide 186 (G to A), 203 (A to C), 229 (T to C), and 276 (G to A) of SEQ ID NO: 2, a vector comprising the nucleic acid molecule, and a host transformed with the vector. The invention also relates to specific uses, in particular diagnostic uses of the nucleic acid molecules described herein. The invention also relates to haplotyping an ANXA5 gene regulation element from a nucleic acid from an individual which involves determining nucleotides present at positions 186, 203, 229 and 276 of the individual's copy of the ANXA5 gene regulation element by comparison to SEQ ID NO: 2.

Genetic variant of the annexin A5 gene

The present invention relates to a nucleic acid molecule comprising an annexin A5 (ANXA5) gene regulation element which comprises at least one point mutation, whereby said at least one point mutation (substitution) is selected from the group consisting of (i) a point mutation G to A at a position which corresponds to nucleotide 186 of SEQ ID NO: 2; (ii) a point mutation A to C at a position which corresponds to nucleotide 203 of SEQ ID NO: 2; (iii) a point mutation T to C at a position which corresponds to nucleotide 229 of SEQ ID NO: 2; and (iv) a point mutation G to A at a position which corresponds to nucleotide 276 of SEQ ID NO: 2. Furthermore, the present invention provides for a vector comprising the nucleic acid molecule the invention and a host transformed with the vector. The invention also relates to specific uses, in particular diagnostic uses of the nucleic acid molecules described herein. Moreover, the invention relates to a method for haplotyping an ANXA5 gene regulation element in an individual comprising the steps of: (a) isolating a nucleic acid from a sample that has been removed from the individual; (b) determining the presence of the nucleotides present at positions 186, 203, 229 and 276 of the individual's copy of the ANXA5 gene regulation element, wherein the position numbers are determined by comparison to SEQ ID NO: 2; (c) assigning the individuals a particular haplotype by comparison of the nucleotides present at said positions to the nucleotides recited in the haplotypes as defined herein.

Growing community of inventors

Altenberge, Germany

Volker Gerke