Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Conxi Lazaro, Antonia Gaona, Anna Ravella, Victor Volpini, Xavier Estivill

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.

Original languageEnglish
Pages (from-to)129-134
Number of pages6
JournalPrenatal Diagnosis
Volume15
Issue number2
DOIs
Publication statusPublished - Feb 1995

Keywords

  • NF1
  • Neurofibromatosis type 1
  • microsatellites
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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