Compositions and methods for detecting pancreatic disease

A method for screening a patient for pancreatic disease, comprising the steps of:

• a) providing a nucleic acid sample from the patient, and
• b) performing a detection step to detect a deletion at any one of cytosines 202-207 of SEQ ID NO:
• 1 in the gene encoding insulin promoter factor-1 (IPF-1) in the sample, wherein detection of a said deletion is indicative of pancreatic disease.

A method for screening a plurality of patients for pancreatic disease, comprising the steps of:

• a) providing a plurality of nucleic acid samples from a corresponding plurality of patients, and
• b) performing a detection step to detect a deletion at any one of cytosines 202-207 of SEQ ID NO:
• 1 in the gene encoding insulin promoter factor 1 (IPF-1) in the plurality of samples, wherein detection of a said deletion in a said sample of said plurality of nucleic acid samples is indicative of pancreatic disease in a patient of said corresponding plurality of patients.

A method of testing a patient who is afflicted with MODY to determine whether or not said patient has MODY4, comprising performing a detection step for a deletion at any one of cytosines 202-207 of SEQ ID NO:

• 1 in the gene encoding insulin promoter factor 1, wherein detection of a said deletion is indicative of MODY4.

A method of screening for pancreatic disease in a patient whose parents both carry an inactivating mutation consisting of a deletion at any one of cytosines 202-207 of SEQ ID NO:

• 1 in the gene encoding IPF-1, comprising performing a detection step for the mutation in the gene encoding IPF-1, wherein detection of the mutation is indicative of pancreatic disease.

A method for screening for mature onset diabetes of the young (MODY) in a patient, comprising detecting an insuling promoter factor 1 (IPF-1) gene comprising a mutation, wherein said IPF-1 gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of heterozygosity for said mutation is indicative of MODY.

A method for screening a patient for MODY, comprising the steps:

• a) providing a nucleic acid sample from said patient, and
• b) detecting an IPF-1 gene comprising a mutation in said sample of step a), wherein said gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of heterozygosity for said mutation is indicative of MODY.

A method for screening a plurality of patients for MODY, comprising the steps:

• a) providing a plurality of nucleic acid samples from a corresponding plurality of patients, and
• b) detecting an IPF-1 gene comprising a mutation in said plurality of samples of step a), wherein said gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of heterozygosity for said mutation in a sample of said plurality of samples in indicative MODY in a patient of said plurality of patients.

A method of testing a patient who is afflicted with MODY to determine whether or not said patient has MODY4, comprising detecting an IPF-1 gene comprising a mutation, wherein said gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of said mutation is indicative of MODY4.

A method of screening for MODY in a patient whose parents both carry an inactivating mutation in the gene encoding IPF-1, comprising detecting an IPF-1 gene comprising a mutation, wherein said gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of heterozygosity for said mutation is indicative of MODY.

A method for testing a patient for MODY4, comprising the steps:

• a) providing a nucleic acid sample from said patient, and
• b) detecting an IPF-1 gene comprising a mutation in said sample of step a), wherein said gene comprising a mutation encodes a truncated IPF-1 protein which lacks transactivation function, and wherein detection of heterozygosity for said mutation is indicative of MODY4.

A method for screening for pancreatic disease in a patient, comprising detecting an IPF-1 gene comprising the mutation IPF1ΔC, and wherein detection of said mutation is indicative of pancreatic disease.

A method for screening a patient for pancreatic disease, comprising the steps:

• a) providing a nucleic acid sample from said patient, and
• b) detecting an IPF-1 gene comprising the mutation IPF1ΔC in said sample of step a), and wherein detection of said mutation is indicative of pancreatic disease.

A method for screening a plurality of patients for pancreatic disease, comprising the steps:

• a) providing a plurality of nucleic acid samples from a corresponding plurality of patients, and
• b) detecting an IPF-1 gene comprising the mutation IPF 1ΔC in said plurality of samples of step a), and wherein detection of said mutation in a sample of said plurality of samples is indicative of pancreatic disease in a patient of said plurality of patients.

A method of testing a patient who is afflicted with MODY to determine whether or not said patient has MODY4, comprising detecting an IPF-1 gene comprising the mutation IPF1ΔC, and wherein detection of said mutation is indicative of MODY4.

A method of screening for pancreatic disease in a patient whose parents both carry an inactivating mutation in the gene encoding IPF-1, comprising detecting an IPF-1 gene comprising the mutation IPF1ΔC, and wherein detection of said mutation is indicative of pancreatic disease.

A method for testing a patient for pancreatic agenesis or MODY4, comprising the steps:

• a) providing a nucleic acid sample from said patient,
• b) performing on both allelic copies of the gene encoding IPF-1 a detection step for an IPF-1 gene comprising the mutation IPF1ΔC, and
• c) detecting said mutation in one or both of said allelic copies of said gene in said sample, wherein homozygosity of said mutation is indicative of pancreatic agenesis and wherein heterozygosity of said mutation is indicative of MODY4.

An isolated nucleic acid comprising the nucleotide sequence of SEQ ID NO:

• 1, with the exception that any one of nucleotides 202-207 is deleted, wherein said nucleic acid encodes a truncated IPF-1 protein.