Papers by Stefania Zapata
Human Molecular Genetics, 1996
Human Genetics, 1996
Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) ge... more Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region. This gene has been found to be deleted in most patients with childhood-onset SMA. We have studied the SMN gene in a clinically heterogeneous family, including one patient affected by infantile chronic SMA and three subjects with mild adult-onset muscle weakness. Deletions in the SMN gene were detected in all of these patients, indicating that the childhood and adult SMAs are genetically homogeneous in this family. Genotyping of the family members established that the three mildly affected individuals were homozygous for the same haplotype from the SMA region, whereas the more severely affected patient was heterozygous with one different haplotype.
Human Genetics, 1994
The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recent... more The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in the region q12-q13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts of the SMA region as defined by reference markers. A cosmid library was constructed from one RH. Thirteen clones were isolated and five of these were mapped within the SMA region. Both RH mapping and fluorescence in situ hybridization analysis showed that two clones map in the region between loci D5S125 and D5S351. One of the cosmids contains expressed sequences. Polymorphic dinucleotide repeats were identified in both clones and used for segregation analysis of key recombinant SMA families. One recombination between the SMA locus and the new marker 9Ic (D5S685) indicates that 9Ic is probably the closest distal marker. The absence of recombination between the SMA locus and marker Fc (D5S684) suggests that Fc is located close to the disease gene. These new loci should refine linkage analysis in SMA family studies and may facilitate the isolation of the disease gene.
Human Genetics, 1994
We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the ß-amylo... more We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the ß-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivsl, we detected 13 alleles in ...
American Journal of Medical Genetics, 1995
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Papers by Stefania Zapata