Patent ID: 8822145
Filing Date: 2014-09-02
Classification: A61K,A61P,C07K,C12N,C12Q,Y10T

Abstract:
1. A method of identifying a nucleotide sequence variant of a 5′-noncoding region, 3′-noncoding region or intron region of SEQ ID NO: 7, wherein said variant encodes a polypeptide that has human POLD2 activity, wherein SEQ ID NO: 7 consists of a 5′-noncoding region shown in sequence segment 1-11545 of SEQ ID NO: 7, a 3′-non coding region shown in sequence segment 18654-19000 of SEQ ID NO: 7, exon regions shown in sequence segment 11546-11764, 15534-15656, 15857-15979, 16351-16464, 16582-16782, 17089-17169, 17327-17484, 17704-17829, 18199-18303, 1653-18811 of SEQ ID NO: 7 and intron regions shown in sequence segments 11765-15533, 15657-15856, 15980-16350, 16465-16581, 16783-17088, 17170-17326, 17485-17703, 17830-18198, 18304-18652 of SEQ ID NO: 7 or its complementary sequence comprising (a) isolating genomic polynucleotide from a sample and (b) determining the presence or absence of a nucleotide sequence variation in said genomic polynucleotide by comparing the nucleotide sequence of SEQ ID NO: 7 with the nucleotide sequence of the isolated genomic polynucleotide and establishing if and where a difference occurs between the two nucleic acid sequences thereby identifying a nucleotide sequence variant of SEQ ID NO: 7 or its complement.