Method of detecting risk of type II diabetes based on mutations found in carboxypeptidase E

A method for determining whether a human subject has or is at risk for developing type II diabetes comprising the steps of:

• (a) obtaining a sample from a subject, said sample comprising nucleic acid molecules containing a carboxypeptidase E (CPE) gene;
• and
• (b) detecting the presence or absence of a genetic mutation in the gene of said subject, wherein said genetic mutation comprises an alteration in the codon which codes for amino acid 283 which results in a replacement of arginine by another amino acid and the presence of said genetic mutation identifies a subject that has or is at risk for developing type II diabetes.

A method for determining whether a human subject has or is at risk for developing type II diabetes comprising the steps of:

• (a) obtaining a sample from a subject, said sample comprising nucleic acid molecules containing a carboxypeptidas E (CPE) gene;
• and
• (b) detecting the presence or absence of a genetic mutation in the gene of said subject, wherein said genetic mutation comprises an alteration in the codon beginning at nucleotide 1133, which results in a replacement of arginine by another amino acid.

A method for determining whether a subject has or is at risk for developing type II diabetes comprising the steps of:

• (a) obtaining a sample from a subject, said sample comprising nucleic acid molecules containing a carboxypeptidas E (CPE) gene;
• and
• (b) determining the copy number of said CPE gene compared to a control subject.

A method for determining whether a subject has or is at risk for developing type II diabetes comprising the steps of:

• (a) obtaining a sample from a subject, said sample comprising nucleic acid molecules containing a carboxypeptidase E (CPE) gene;
• and
• (b) identifying a gross rearrangement of said CPE gene in the genome of said subject using in situ hybridization.