New DNA associated with Alstrom syndrome, useful for diagnosis and identification of carriers, also related polypeptides, antibodies and transgenic animals

摘要

Isolated DNA sequence (I) that comprises ALMS1 (associated with Alstrom syndrome), is new. Independent claims are also included for the following: (1) DNA sequence (Ia) that hybridizes to the complement of (I) under stringent conditions, encodes the same amino acid sequences as (I), encodes the 1902 amino acid human ALMS1 polypeptide sequence, given in the specification or includes a mutation associated with Alstrom syndrome; (2) DNA construct comprising a vector or nucleic acid consisting of (I) or (Ia); (3) recombinant host cells containing the vector of (2); (4) transgenic, non-human animal, or transgenic eukaryotic cell, containing (I) or a fragment of it; (5) preparation of a polypeptide (II) by culturing the cells of (3); (6) protein (IIa) that is encoded by (I) or (Ia), or is a mutant ALMS polypeptide; (7) variant ALMS1 polypeptide (IIb); (8) antibody (Ab) or its fragments that bind selectively to (IIa) or (IIb); (9) diagnosis of Alstrom syndrome or carriers of this syndrome; (10) reagent for testing a sample for presence of ALMS1 nucleic acid; and (11) kit of reagents for detecting a mutation in ALMS1 nucleic acid, or detecting ALMS1 protein.