HSD3B1 sequence variants
AssigneeMayo Foundation for Medical Education and Research
InventorsRichard M. Weinshilboum, Linda L. Pelleymounter, Eric D. Wieben, Oreste Salavaggione, Liewei Wang
Life of this patent
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Abstract
Isolated HSD3B1 nucleic acid molecules that include a nucleotide sequence variant and nucleotides flanking the sequence variant are described, as are HSD3B1 allozymes. Methods for determining whether a subject contains an HSD3B1 sequence variant also are provided.
Claims13
An isolated nucleic acid molecule consisting essentially of a variant HSD3B1 nucleic acid sequence, wherein said variant HSD3B1 nucleic acid sequence is selected from the group consisting of:
- a) at least ten contiguous nucleotides of SEQ ID NO:5, wherein said sequence includes nucleotide 166, 287, 724, 933, 939, or 1017 of SEQ ID NO:5, with the proviso that the nucleotide at position 166 is thymine, the nucleotide at position 287 is thymine, the nucleotide at position 724 is adenine, the nucleotide at position 933 is cytosine, the nucleotide at position 939 is adenine, or the nucleotide at position 1017 is adenine;
- b) at least ten contiguous nucleotides of SEQ ID NO:
- 1, wherein said sequence includes nucleotide 735, 1083, or 5254 of SEQ ID NO:1, with the proviso that the nucleotide at position 735 is thymine, the nucleotide at position 1083 is adenine, or the nucleotide at position 5254 is cytosine;
- and
- c) the complement of a) or b).
As isolated nucleic acid encoding an HSD3B1 polypeptide, wherein said polypeptide comprises an HSD3B1 amino acid sequence variant relative to the amino acid sequence of SEQ ID NO:6, wherein said amino acid sequence variant is at a residue selected from the group consisting of 96 and 242.
An isolated HSD3B1 polypeptide, wherein said polypeptide comprises an HSD3B1 amino acid sequence variant relative to the amino acid sequence of SEQ ID NO:6, wherein said amino acid sequence variant is at a residue selected from the group consisting of 96 and 242.
A method for determining an HSD3B1 genotype, said method comprising:
- a) providing a nucleic acid sample from a subject, and
- b) screening said nucleic acid sample for one or more genetic markers in linkage disequilibrium with an HSD3B1 allele.
Dependencies are inferred from the claim text.