Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

AUTOR(ES)

Wadey, R

RESUMO

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.

Documentos Relacionados

• DiGeorge syndrome: part of CATCH 22.
• Velocardiofacial syndrome and DiGeorge sequence.
• Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
• DiGeorge Syndrome: a not so rare disease
• Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.