Patent ID: 6265157
Filing Date: 2001-07-24
Classification: C07K,C12Q

Abstract:
A method of detecting a collagen gene alteration associated with a pathological condition in a human subject, the method comprisingobtaining from the subject a sample nucleic acid comprising a portion which consists of at least fifteen consecutive nucleotides of a segment of the gene, wherein the portion comprises at least one intronic nucleotide, a first site, and a second site;determining the nucleotide sequence of the portion; andcomparing the nucleotide sequence of the portion with the corresponding consensus nucleotide sequence of the gene,whereby a difference between the nucleotide sequence of the portion and the corresponding consensus nucleotide sequence indicates the presence of the collagen gene alteration in the subject,wherein the segment is the segment of the COL1A1 gene extending in the 5'- to 3'-direction from and including the 78 nucleotides of intron 27 located adjacent exon 28 through the 3'-end of intron 51wherein the consensus nucleotide sequence of the COL1A1 gene is SEQ ID NO: 1.