A spinalis és bulbaris muscularis atrophia androgénreceptor génjében található (CAG)n ismétlödések polimorfizmusa normális hazai gyermekpopulációban.

Translated title of the contribution: Androgen receptor gene (CAG)n of spinal and bulbar muscular atrophy found in the normal child population in Hungary

J. Molnár, A. Kis, B. Melegh

Research output: Contribution to journalArticle

Abstract

A simple and accurate molecular biology method was developed for the diagnosis of the spinal and bulbar muscular atrophy. With this method DNA isolated from peripheral blood of 40 unaffected, apparently healthy children was assayed for the CAG repeat polymorphism responsible for the disease. The results were compared with population genetic studies of international references, and the data showed no differences between the Hungarian repeat length and findings of others. Our experience shows, that this method can be used for the differential diagnosis of muscular atrophies and praenatal diagnostics in affected families.

Translated title of the contributionAndrogen receptor gene (CAG)n of spinal and bulbar muscular atrophy found in the normal child population in Hungary
Original languageHungarian
Pages (from-to)2937-2938
Number of pages2
JournalOrvosi hetilap
Volume138
Issue number46
Publication statusPublished - Nov 16 1997

ASJC Scopus subject areas

  • Medicine(all)

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