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© 1993 Oxford University Press

OTHER

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

Conxi Lázaro1, Antonia Gaona1, Anna Ravella1,2, Victor Volpini1, Teresa Casals1, Juan-José Fuentes1 and Xavier Estivill1,3,*

1Molecular Genetics Department, Cancer Research Institute, I.R.O. Hospital Duran y Reynals 08907 Barcelona, Catalonia 2Servei de Dermatologia, Hospital de la Creu Roja 08025 Barcelona, Catalonia 3Servei de Genètica, Hospital Clínic i Provincial 08036 Barcelona, Catalonia, Spain

*To whom correspondence should be addressed at: Molecular Genetics Department, Cancer Research Institute, IRO, Hospital Duran y Reynals, 08907 Barcelona, Catalonia, Spain

Received February 10, 1993; Revised April 9, 1993; Accepted April 9, 1993

Neurofibromatosis type 1 (NF1) (von Recklinghausen) is a common autosomal dominant disorder, characterised by the presence of peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. Due to the high mutation rate at the NF1 locus, most patients are expected to have different mutations, limiting molecular analysis and genetic counseling to the identification of the mutation in each patient or family, or to the use of DNA polymorphisms. We have analysed an Alu-repeat polymorphic sequence (AAAT), located in intron 27 of the NF1 gene, in 70 NF1 and 40 CEPH families and we have detected several genetic and molecular abnormalities. In two families the NF1 individuals were hemizygous at the AAAT-repeat and/or at the CA-repeat of intron 27 of NF1, due to interstitial deletions, which include intron 27 to exon 37 of the NF1 gene. A 71-bp deletion at the Alu sequence was detected in non-NF1 chromosomes of members of three NF1 families. New alleles at the AAAT-repeat were found in one NF1 family and in three CEPH families giving a mutation rate for this AAAT-repeat of 0.36% per allele, which is one of the highest detected for a microsatellite locus.


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