Methods of identifying mutations in nucleic acid
AssigneeThe Johns Hopkins University
InventorsAravinda Chakravarti, Eileen S. Emison, Andrew S. Mccallion, Eric Green
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Abstract
The present invention provides methods of identifying mutations in nucleic acid. Also provided herein are methods of identifying subjects having Hirschsprung disease risk and diagnostic markers for Hirschsprung disease.
Claims42
A method of identifying a mutation in DNA, comprising:
- predicting a genetic interval for a disease;
- comparing orthologous sequences to refine a putative functional interval;
- and
- sequencing the putative functional interval subjects to identify mutations.
A method of identifying a diagnostic marker for a disease, comprising:
- predicting a genetic interval for a disease;
- comparing orthologous sequences to refine the interval;
- and
- sequencing the refined interval in affected and unaffected subjects to thereby identify a diagnostic marker associated with disease susceptibility, wherein the marker is over represented in affected subjects compared to unaffected subjects.
A method of identifying a subject having Hirschsprung disease risk comprising detecting in the subject a mutation in the receptor tyrosine kinase RET, wherein a RET+3:T allele is associated with disease risk.
A kit for detecting the presence of HSCR comprising:
- primers amplifying the mutation and instructions for use.
Dependencies are inferred from the claim text.