Identification of gene mutations associated with congenital lipo

Details Identification of gene mutations associated with congenital lipo Identification of gene mutations associated with congenital lipo

1995-03-23

1998-09-15

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

536 231, 536 243, C12Q 168, C07H 2102, C07H 2104

Patent

active

058076786

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.

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