González-Rodríguez E, Jaramillo-Rangel G, Barrera-Saldaña H A
Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, México.
Am J Med Genet. 1997 Nov 12;72(4):399-402. doi: 10.1002/(sici)1096-8628(19971112)72:4<399::aid-ajmg5>3.0.co;2-m.
The type IA of the isolated deficiencies (ID) of growth (HGH) and placental lactogen (HPL) hormones are frequently the consequence of deletions in their respective genes. To facilitate the diagnosis of these cases, 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 by the identification of each of them in the amplification product by gene-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 family.
