Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.

With consensus primers based upon the nucleotide sequence of the chicken alpha 1(X) collagen gene, we have used PCR with human genomic DNA as template to isolate a 289 bp fragment coding for part of the carboxyl non-triple helical domain of the human alpha 1(X) gene. We have demonstrated the presence of the sequence of the PCR clone within the human genome by partial sequence analysis of a 1 kb HindIII genomic DNA fragment that hybridized with the PCR clone. Furthermore, using the PCR clone as a probe for in situ hybridization of human metaphase chromosome spreads, and for Southern analysis of a panel of human-hamster somatic cell hybrid DNAs, we have assigned the locus for the alpha 1(X) gene to the q21-q22 region of human chromosome 6.