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1.
Hum Genet ; 102(1): 87-92, 1998 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9490304

RESUMO

Human placental lactogen (HPL) is produced in large amounts in normal pregnancies. We report a pregnancy with complete lack of HPL and the placental variant of the human growth hormone HGH-V. The pregnancy resulted in a severely growth-retarded but otherwise normal male baby. PCR analysis of DNA extracted from the placenta showed that the HPL encoding genes hPL-4 and hPL-3 were deleted along with the human growth hormone variant gene (hGH-V), which is located between these two active hPL genes and also expressed in the normal placenta. Of the five members of this multigene family, hGH-N, which is expressed in the pituitary gland, and hPL-1, a presumed pseudogene, were left intact. The latter (hPL-1) was expressed as RNA transcripts only at very low levels as is usually reported in normal pregnancies. Analysis of the parents' DNA showed that both of them carried a different heterozygous deletion at the 3' end of the hGH/hPL locus.


Assuntos
Deleção de Genes , Hormônio do Crescimento/deficiência , Hormônio do Crescimento/genética , Hormônios Placentários/deficiência , Hormônios Placentários/genética , Lactogênio Placentário/deficiência , Lactogênio Placentário/genética , Adulto , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Pais , Placenta/química , Reação em Cadeia da Polimerase , Gravidez , RNA Mensageiro/análise
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