A Lesch-Nyhan-kor molekularis genetikai korismezese

Translated title of the contribution: Molecular genetic diagnosis of the Lesch-Nyhan disease

L. Timar, B. Hanno, V. Karcagi, E. Czeizel

Research output: Contribution to journalArticle

Abstract

A couple visited the genetic counselling clinic to identify the recurrence risk in their planned baby for a severe disease of the central nervous system resembling Lesch-Nyhan syndrome and observed in three maternal male relatives of the wife. A missence mutation of the hypoxantine-guanine-phosphoribosil-transferase gene was identified in the 3. codon of exon IX (TGA→TAA) in two living probands, predicting the replacement of cysteine-206 by tyrosin and confirming the clinical diagnosis of Lesch-Nyhan disease. The molecular genetic analysis excluded the carriership of the prospective mother and later on a healthy boy was born.

Translated title of the contributionMolecular genetic diagnosis of the Lesch-Nyhan disease
Original languageHungarian
Pages (from-to)558-562
Number of pages5
JournalLege Artis Medicinae
Volume6
Issue number9-10
Publication statusPublished - Dec 1 1996

ASJC Scopus subject areas

  • Medicine(all)

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