Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen.
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Labhard ME, Hollister DW
Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen.
Matrix. 1990 May;10(2):124-30.
- PubMed ID
- 2374517 [ View in PubMed]
- Abstract
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.