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Humangenetik

, Volume 15, Issue 2, pp 126–135 | Cite as

Syndrome de Lesch-Nyhan

Détection des hétérozygotes par sélection biochimique des cellules mutantes et autoradiographie
  • A. M. Hagemeijer
  • P. Dodinval
  • J. M. Andrien
Travaux Originaux

Résumé

L'existence de deux populations cellulaires, l'une HGPRT+ et l'autre HGPRT- a pu être démontrée en cultures de fibroblastes à partir de biopsies cutanées chez la soeur, la mère et une soeur de la mère d'un patient atteint du syndrome de Lesch-Nyhan. Ce but est aisément atteint en réalisant une sélection biochimique des cellules mutantes par la 8-azaguanine avant l'autoradiographie des cultures incubées avec l'3H-hypoxanthine; parallèlement les cellules normales sont isolées dans le milieu HAT.

Ceci nous paraît être une méthode sûre et relativement peu compliquée, de diagnostiquer dans les familles atteintes, les femmes hétérozygotes dont la descendance mâle court un risque important de syndrome de Lesch-Nyhan. C'est précisément le cas de la jeune soeur du patient, dont toute grossesse éventuelle doit être suivie dès le début et exige une détection prénatale de cette affection.

Lesch-Nyhan syndrome

Heterozygote detection by biochemical selection of the mutant cells and autoradiography

Summary

Two distinct cell populations (the first HGPRT+, the other HGPRT-) were isolated in skin fibroblasts cultures from a sister, the mother and a maternal aunt of a patient with Lesch-Nyhan syndrome, an X-linked disorder.

This result was achieved by means of a biochemical selection prior to autoradiography with 3H-hypoxanthine. Mutant cells were isolated in a medium containing 8-azaguanine, while normal cells were grown in HAT medium.

This proved to be an easy and reliable method for detecting female heterozygotes in families where a patient with Lesch-Nyhan syndrome had been observed. A pre-pregnancy diagnosis of these female carriers is advisable because of the high probability of a full-blown syndrome in their male descendants. This was particularly the case of the 12 years old proband's sister in the family studied here.

Zusammenfassung

Zwei unterschiedliche Zellpopulationen (HGPRT+und HGPRT-) wurden aus den Hautfibroblasten einer Schwester, der Mutter und einer Tante mütterlicherseits eines Patienten mit X-chromosomalem Lesch-Nyhan-Syndrom isoliert.

Das Ergebnis wurde mit Hilfe biochemischer Selektion vor der Autoradiographie mit 3H-Hypoxanthin erzielt. Mutierte Zellen wurden in einem Nährmedium mit 8-Azaguanin isoliert, während normale Zellen im HAT-Medium wuchsen. Diese erwies sich als eine einfache und zuverlässige Methode zur Erkennung von weiblichen Heterozygoten in Familien von Patienten mit Lesch-Nyhan-Syndrom. Wegen des hohen Risikos des Auftretens des Syndroms bei männlichen Nachkommen ist die pränatale Diagnostik bei weiblichen Trägern indiziert. In diesem Fall gilt das für die 12jährige Schwester des Probanden.

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Copyright information

© Springer-Verlag 1972

Authors and Affiliations

  • A. M. Hagemeijer
    • 1
  • P. Dodinval
    • 2
  • J. M. Andrien
    • 3
  1. 1.Laboratoire de Cytogénétique (Prof. J. Frederic)Université de LiègeLiègeBelgique
  2. 2.Service de Génétique humaineUniversité de LiègeLiègeBelgique
  3. 3.Département de Pathologie et Clinique médicales (Prof. H. Van Cauwenberge)Université de LiègeLiègeBelgique

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