Inventors:
Walter L. Miller - San Francisco CA
Dong Lin - San Francisco CA
Jerome F. Strauss - Wyndmoor PA
Assignee:
Regents of the University of California - Oakland CA
International Classification:
C12Q 168, C07H 2102, C07H 2104
Abstract:
Method for diagnosis of congenital lipoid adrenal hyperplasia and for the detection of the presence of a mutated gene for steroidogenesis acute regulatory protein (StAR) by analyzing nucleic acid obtained from a patient. The nucleic acid can be analyzed by restriction fragment length polymorphism analysis, nucleic acid hybridization, or nucleotide sequencing, among other techniques. A mutation may result in premature termination of the protein, or it may result in the StAR gene not being transcribed or translated, or it may result in a change in the amino acid sequence of the StAR gene product.