Abstract: The present invention relates to a method for isolating and identifying the nucleotide sequence of the human gene for the type IV collagen &agr;5(IV) chain. The present invention is directed to the determination of the nucleotide sequence of the gene for the &agr;5(IV) collagen chain in individuals by any method known to the art, e.g. cloning from genomic DNA libraries or amplifying gene regions with the polymerase chain reaction (PCR) and studying their physical properties or nucleotide sequences. In addition, the invention is directed to the use of the nucleotide sequences of the &agr;5(IV) gene to amplify or identify the nucleotide sequences of the &agr;5(IV) gene.

Abstract: The present invention provides for a method for preparing antibodies that specifically detect the type IV collagen .alpha.5 chain that is defective in various basement membrane disorders such as in X chromosome-linked Alport's syndrome. The invention further provides for the use of such antibodies to detect the .alpha.5(IV) collagen chain in solutions and other human tissue specimens using immunological methods comprised of antibodies specific for said protein. Along this line, the invention relates to the use of the specific antibodies to examine the presence or absence of the .alpha.5(IV) collagen chain in the tissues, e.g. skin or kidneys, etc. of patients with renal failure, possibly due to Alport's syndrome. In addition, a further object of the present invention is to provide compositions, comprising both labeled and unlabeled peptides containing sequences from the .alpha.

Abstract: The present invention provides for a method for preparing antibodies that specifically detect the type IV collagen .alpha.5 chain that is defective in various basement membrane disorders such as in X chromosome-linked Alport's syndrome. The invention further provides for the use of such antibodies to detect the .alpha.5(IV) collagen chain in solutions and other human tissue specimens using immunological methods comprised of antibodies specific for said protein. Along this line, the invention relates to the use of the specific antibodies to examine the presence or absence of the .alpha.5(IV) collagen chain in the tissues, e.g. skin or kidneys, etc. of patients with renal failure, possibly due to Alport's syndrome.

Abstract: The present invention provides for a method for isolating and partially characterizing the nucleotide sequence for a novel polypeptide chain of human basement membrane (type IV) collagen, referred to as the .alpha.5(IV) polypeptide chain. The invention provides for the use of the identified nucleotide sequence (or DNA fragments thereof) to detect mutations in individual genes specific for the .alpha.5(IV) chain which can, directly or indirectly, produce several human diseases. Moreover, the invention also relates to procedures for determining genetic or acquired disorders of basement membranes using the identified nucleotide sequence (or DNA fragments thereof) of the .alpha.5(IV) polypeptide chain, probes specific to DNA fragments of said nucleotide sequence,or antibodies to the nucleotide sequence or DNA parts thereof.