Premium
A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome *
Author(s) -
Singh Surjit,
Willers Ingrid,
Goedde H. Werner
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00002.x
Subject(s) - lesch–nyhan syndrome , prenatal diagnosis , hypoxanthine guanine phosphoribosyltransferase , amniotic fluid , enzyme , chemistry , microbiology and biotechnology , biology , fetus , genetics , pregnancy , biochemistry , gene , mutant
A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7–10 days. The procedure is based on the direct cultivation of amniotic cells on microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm × 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.