Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen.
Type I collagen is the site of several common genetic diseases and therefore, the diagnosis of mutational defects occurring therein is of considerable importance. By the polymerase chain reaction amplification of a series of seven overlapping segments, we show that the entire helical and telopeptide regions of the human alpha 1 (I) collagen cDNA can be cloned for sequencing. Unlike all other means of identifying collagen mutations, including protein sequencing and electrophoretic analysis, RNase A hybrid analysis and chemical cleavage of DNA or RNA heteroduplexes, the technique presented is capable of identifying all mutations and polymorphisms without false negative results.
Labhard
M E
ME
Portland Unit, Shriners Hospital for Crippled Children, OR.
Hollister
D W
DW
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction / Q000379:methods*
D003094:Collagen; D004247:DNA