| 摘要 |
Nucleic acid (I) comprising at least 245 consecutive nucleotides (nt) from any one of the 14 sequences, designated (S1)-(S14), defined in the specification, or their complements, representing intron/exon combinations from the human ABC1 gene, is new. Independent claims are also included for the following: (1) nucleic acid (Ia) comprising any one of the 33 sequences (S15 to S47; all sequences defined in the specification) or their complements, representing individual exons of the ABC1 gene; (2) nucleic acid (Ib) comprising at least 8 consecutive nt from any of 43 sequences (S48 to S90; all sequences defined in the specification) or their complements, representing introns of the ABC1 gene; (3) nucleic acid (Ic) at least 80% identical with the sequences of (Ib) or their complements; (4) nucleic acid (Id) that hybridizes under highly stringent conditions with the sequences of (Ib) or their complements; (5) nucleic acid (Ie) of 9497 basepair (bp) (S91; defined in the specification), representing the cDNA of the human ABC1 gene or its complement; (6) nucleic acid (If) comprising at least 8 nt from the 2617 bp (S92), 302 bp (S93), 9593 bp (S94), 173 bp (S95) or 9495 bp (S95) (all sequences defined in the specification), or their biologically active fragments or complements; (7) nucleic acid (Ig) at least 80% identical with (S92)-(S96), their biologically active fragments or complements; (8) nucleic acid (Ih) that hybridizes under highly stringent conditions with (S92)-(S96), their biologically active fragments or complements; (9) nucleic acid (Ii) comprising at least 8 nucleotides from any of sequences (S97)-(S108), containing a polymorphic base, or their complements; (10) probes and primers specific for the ABC1 gene containing at least 15 nt from (I)-(Ii); (11) a method for amplification and detection of (I)-(Ii); (12) a kit for detection or amplification of (I)-(Ii); (13) a recombinant vector containing (I)-(Ii); (14) recombinant host cells containing (I)-(Ii) or the vector of (13); (15) mutated ABC1 polypeptides of 2233 (S140) or 574 (S141) amino acids (aa) (both sequences defined in the specification); (16) antibodies (Ab) directed against the mutants of (15); (17) a kit for detecting the mutants of (15) containing Ab and detection reagents; and (18) a method of screening to identify compounds (A) that act on the metabolism of cholesterol and are agonists or antagonists of ABC1 polypeptide. |
