Patent ID: 8795959
Filing Date: 2014-08-05
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:6, wherein said variant encodes a protein that has human glucokinase activity, wherein SEQ ID NO:6 consists of a 5′-noncoding region shown in sequence segment 1-20484 of SEQ ID NO:6, a 3′-non coding region shown in sequence segment 33461-45,980 of SEQ ID NO:6, exon regions shown in sequence segments 20485-20523, 25133-25297, 26173-26328, 27524-27643, 28535-28630, 29740-28838, 30765-30950, 31982-32134, 32867-33097, 3331433460 of SEQ ID NO:6, and intron regions shown in sequence segments 20524-25132, 25298-26172, 26329-27523, 27644-28534, 28631-28739, 28839-30764, 30951-31981, 32135-32866, 33098-33313 of SEQ ID NO:6; 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:6 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:6 or its complement.