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End fragment cloning from a YAC at the D22S134 locus allowed the isolation of a new probe HD7k. This marker detects hemizygosity in two patients previously shown to be dizygous for D22S134. This positions the distal deletion breakpoint in these patients to the sequences within the YAC, and confirms that HD7k is proximal to D22S134. In a search for coding sequences within the region commonly deleted in DGS we have identified a conserved sequence at D22S134. Although no cDNAs have yet been isolated, genomic sequencing shows a short open reading frame with weak similarity to collagen proteins.

Original publication




Journal article


J Med Genet

Publication Date





818 - 821


Amino Acid Sequence, Animals, Base Sequence, Blotting, Southern, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 22, Collagen, Conserved Sequence, DNA Probes, DiGeorge Syndrome, Genetic Markers, Humans, Mammals, Molecular Sequence Data, Procollagen, Sequence Alignment, Sequence Homology, Amino Acid