CRTAP & LEPRE1 Genomic Sequencing
CRTAP is a gene that encodes cartilage associated protein (CRTAP) and LEPRE1 is a gene that encodes prolyl-3-hydroxyase 1 (P3H1). Both CRTAP and P3H1 are members of a complex of three proteins, in addition to cyclophilin B, that are required for the proper hydroxylation and positional rotation of a single proline residue (amino acid 986) in the α1 and α2 chains of type I collagen. The precise mechanisms by which these mutations are translated into clinical OI phenotype is unknown.
For the sequence analysis of the LEPRE1 gene, the 14 coding exons and flanking intron sequences are amplified by PCR using 9 primer pairs. For CRTAP, the 7 coding exons and flanking intron sequences are amplified by PCR using 7 primer pairs. The PCR products are screened by polyacrylamide gel electrophoresis and the coding and flanking regions of the LEPRE1 gene and the CRTAP gene are sequenced by automated sequencing (ABI 3130).
Sensitivity: Unknown
Turnaround time: 4-6 weeks
References:
Morello, R et al Cell 2006 Oct 20;127(2):291-304. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.