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A pitfall in the prenatal diagnosis of Lesch‐Nyhan syndrome by chorionic villus sampling
Author(s) -
Page Theodore,
Broock Robyn L.
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.1970100304
Subject(s) - lesch–nyhan syndrome , hypoxanthine guanine phosphoribosyltransferase , purine nucleoside phosphorylase , chorionic villus sampling , catabolism , hypoxanthine phosphoribosyltransferase , hypoxanthine , prenatal diagnosis , chorionic villi , adenine phosphoribosyltransferase , amniotic fluid , amniocentesis , trisomy , fetus , biology , microbiology and biotechnology , andrology , enzyme , biochemistry , medicine , pregnancy , purine , genetics , gene , mutant
Abstract The ratio of the activities of catabolic enzymes such as 5′‐nucleotidase and purine nucleoside phosphorylase to that of hypoxanthine‐guanine phosphoribosyltransferase (HPRT) may be much higher in frozen or cultured chorionic villus cells than in cultured amniotic fluid cells, cultured fibroblasts, or red blood cells. Consequently, unless these catabolic activities are controlled the observed activity of HPRT may be greatly decreased, and a false diagnosis of Lesch‐Nyhan syndrome may result. For a reliable diagnosis, the reaction products of HPRT must be protected from catabolism.