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DXS548/FRAXAC1haplotypes in fragileX chromosomes in theBrazilian population Regina Célia Mingroni‐NettoS�lvia S. CostaCláudia B. Angeli1999 год

DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population
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Страница публикацииПубликация в OpenAlex
Аннотация: In order to investigate the origin of the fragile X mutation in the Brazilian population, we assessed the size of the microsatellite markers DXS548, FRAXAC1 and FRAXAC2 in 72 X chromosomes from unrelated affected males and 64 control chromosomes. We found a significantly different distribution of alleles between fragile X and controls for loci DXS548 and FRAXAC1, but no apparent linkage disequilibrium was detected for the sequence FRAXAC2. The most frequent DXS548/FRAXAC1 haplotypes in affected males were haplotypes 204/158 bp (2-1) and 196/152 bp (6-4). These findings are in accordance with the proposed two main mutational pathways for the generation of FMR-1 alleles that predispose to instability and hyperexpansion. Am. J. Med. Genet. 84:204–207, 1999. © 1999 Wiley-Liss, Inc.
Год издания: 1999
Авторы: Regina Célia Mingroni‐Netto, S�lvia S. Costa, Cláudia B. Angeli, Angela Maria Vianna‐Morgante
Издательство: Wiley
Источник: American Journal of Medical Genetics
Ключевые слова: Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Ubiquitin and proteasome pathways
Другие ссылки: American Journal of Medical Genetics (HTML)
PubMed (HTML)