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Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers
Author(s) -
Lazaro Conxi,
Gaona Antonia,
Ravella Anna,
Volpini Victor,
Estivill Xavier
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150204
Subject(s) - neurofibromatosis , microsatellite , genetics , genetic counseling , prenatal diagnosis , restriction fragment length polymorphism , biology , genetic marker , gene , medicine , genotype , allele , pregnancy , fetus
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.