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Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome
- Source :
- Europe PubMed Central, Scopus-Elsevier
-
Abstract
- The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.
- Subjects :
- Genetics
Male
Mutation
Offspring
Chromosomal fragile site
DNA Mutational Analysis
Nucleic Acid Hybridization
RNA-Binding Proteins
Nerve Tissue Proteins
Biology
medicine.disease_cause
medicine.disease
Polymerase Chain Reaction
General Biochemistry, Genetics and Molecular Biology
DNA sequencing
Fragile X syndrome
Fragile X Mental Retardation Protein
Fragile X Syndrome
medicine
Humans
Female
Allele
Gene
Alleles
Sequence (medicine)
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Europe PubMed Central, Scopus-Elsevier
- Accession number :
- edsair.doi.dedup.....88daf1f3f4bee79b7c2041fc74994906