Premium
Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism
Author(s) -
Maassen J. A.,
Lindhout D.,
Reuss A.,
Kleijer W. J.
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100103
Subject(s) - medicine , autophosphorylation , endocrinology , insulin , prenatal diagnosis , insulin receptor , pregnancy , fetus , biology , genetics , insulin resistance , protein kinase a , phosphorylation
We describe a method for the isolation and functional characterization of insulin receptors from chorionic villi and cultured amniotic fluid cells. The functionality of these receptors is assayed by measuring the insulin‐induced stimulation of autophosphorylation of the receptor β‐chain. The method is expected to allow the prenatal diagnosis of those forms of lep‐rechaunism and related diseases which are the result of a decreased stimulation by insulin of receptor autophosphorylation. A pregnancy at risk for leprechaunism was examined and an unaffected child was correctly predicted by study of the functionality of the insulin receptor on cultured amniocytes and by echoscopic examination.