Human gene marker for metabolic disease
OwnerPaul O. Sheppard, Laura J. Jelinek +1inventors
InventorsPaul O. Sheppard, Laura J. Jelinek, Theodore E. Whitmore
Life of this patent
Estimating the term…
Abstract
The present invention provides methods for identifying abnormalities in human chromosome 11 that are linked to defects in glucose metabolism. The present invention also provides methods for identifying polymorphisms in a new human gene that resides on chromosome 11q23-q24, a locus linked with a heritable form of diabetes.
Claims26
An isolated polypeptide, comprising an amino acid sequence which shares a percent identity with the amino acid sequence of SEQ ID NO:2, wherein the percent identity is selected from the group consisting of at least 70% identity, at least 80% identity, at least 90% identity, at least 95% identity, or greater than 95% identity, and wherein any difference between the amino acid sequence of the isolated polypeptide and the amino acid sequence of SEQ ID NO:2 is due to one or more conservative amino acid substitutions.
An isolated polypeptide comprising at least 15 contiguous amino acid residues of the amino acid sequence of SEQ ID NO:2.
An isolated nucleic acid molecule that encodes a Zig24 polypeptide, wherein the nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule comprising the nucleotide sequence of SEQ ID NO:3, and (b) a nucleic acid molecule that remains hybridized following stringent wash conditions to a nucleic acid molecule comprising the nucleotide sequence of SEQ ID NO:1, or the complement of SEQ ID NO:1.
A method of detecting a chromosome 11 abnormality in a subject comprising:
- (a) amplifying nucleic acid molecules that encode Zsig24 from RNA isolated from a biological sample of the subject, and (b) detecting a mutation in the amplified nucleic acid molecules, wherein the presence of a mutation indicates a chromosome 11 abnormality.
A method of detecting a chromosome 11 abnormality in a subject comprising:
- (a) amplifying nucleic acid molecules that encode Zsig24 from RNA isolated from a biological sample of the subject, (b) transcribing the amplified nucleic acid molecules to express Zsig24 mRNA, (c) translating Zsig24 mRNA to produce Zsig24 polypeptides, and (d) detecting a mutation in the Zsig24 polypeptides, wherein the presence of a mutation indicates a chromosome 11 abnormality.
A method of detecting a chromosome 11 abnormality in a subject comprising:
- (a) amplifying, from genomic DNA isolated from a biological sample of the subject, nucleic acid molecules that either (i) comprise a portion of the nucleotide sequence of SEQ ID NO:1, or that (ii) comprise a nucleotide sequence that is the complement of (i), and
- (b) detecting a mutation in the amplified nucleic acid molecules, wherein the presence of a mutation indicates a chromosome 11 abnormality.
A method for diagnosing a metabolic disease or susceptibility to a metabolic disease in an individual, wherein the disease is related to the expression or activity of a Zsig24 polypeptide comprising the amino acid sequence of SEQ ID NO:2 in that individual, comprising the step of determining the presence of an alteration in the nucleotide sequence encoding Zsig24 polypeptide in the genome of the individual, wherein the presence of an alteration in the Zsig24 gene indicates metabolic disease or susceptibility to a metabolic disease.
A method for diagnosing a metabolic disease or susceptibility to a metabolic disease in an individual, comprising either:
- (a) amplifying nucleic acid molecules that encode Zsig24 from RNA isolated from a biological sample of the individual, and (b) detecting a mutation in the amplified nucleic acid molecules, wherein the presence of a mutation indicates metabolic disease or susceptibility to a metabolic disease, or
- (a′) amplifying nucleic acid molecules that encode Zsig24 from RNA isolated from a biological sample of the subject, (b′) transcribing the amplified nucleic acid molecules to produce Zsig24 mRNA, (c′) translating Zsig24 mRNA to produce Zsig24 polypeptides, and (d′) detecting a mutation in the Zsig24 polypeptides, wherein the presence of a mutation indicates metabolic disease or susceptibility to a metabolic disease.
Dependencies are inferred from the claim text.