MOLECULAR DIAGNOSIS OF DELETIONS IN THE HUMAN MULTIGENE COMPLEX OF GROWTH AND PLACENTAL-LACTOGEN HORMONES

The type IA of the isolated deficiencies (ID) of growth (HGH) and plac ental lactogen (HPL) hormones are frequently the consequence of deleti ons in their respective genes. To facilitate the diagnosis of these ca ses, we developed a rapid method for detecting deletions of the genes involved based on the polymerase chain reaction (PCR) technique. This method consist of the simultaneous amplification via consensus primers of the 5 genes which conform the hGH-hPL multigene family, followed b y the identification of each of them in the amplification product by g ene-specific patterns of restriction enzyme cuts evidenced by agarose gel electrophoresis. We demonstrate the effectiveness of our method by identifying patients with deletions in gene members of the hGH-hPL fa mily. (C) 1997 Wiley-Liss, Inc.