IDENTIFICATION OF GENE MUTATIONS ASSOCIATED WITH CONGENITAL LIPOID ADRENAL HYPERPLASIA

摘要

An isolated DNA or RNA molecule, wherein said molecule contains: (1) a first sequence consisting of hStAR cDNA, hStAR genomic DNA, or hStAR pseudogene DNA as set forth in Figure 1, Table 6, or Table 7; (2) a second sequence, wherein said second sequence is a subsequence of said first sequence at least 10 nucleotides in length; (3) a third sequence in which at least one nucleotide of said first or second sequence is replaced by a different nucleotide; (4) a fourth sequence in which at least one nucleotide is deleted from or inserted into said first or second sequence; or (5) a fifth sequence complementary to any of said first second, or third sequences; with the provisos that (1) said molecule can be an RNA molecule in which U replaces T in any of said sequences (1) - (5), (2) said third sequence is at least 95 % identical to said first or second sequence, (3) said second sequence is not present in mouse StAR cDNA, and (4) said fourth sequence contains no more than 20 inserted nucleotides and no more than 200 deleted nucleotides.