Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 168B; no. 2; pp. 135 - 143
• Main Authors: Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Lee, Jong-Min, Gögele, Martin, D'Elia, Yuri, Pichler, Irene, Sequeiros, Jorge, Pramstaller, Peter P., Gusella, James F., MacDonald, Marcy E., Alonso, Isabel
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.03.2015; Wiley Subscription Services, Inc; John Wiley and Sons Inc
• Subjects: Alleles; Base Pairing - genetics; Chromosomes, Human, Pair 4 - genetics; Delta 2642 allele; Family; Female; Genetic diversity; Genetics; Genomic Instability; Haplotype analysis; Haplotypes - genetics; Humans; Huntington Disease - genetics; Huntington's disease; Instability; Male; Pedigree; Polymorphism, Single Nucleotide - genetics; Portugal; Trinucleotide Repeat Expansion - genetics; Portugal; Instability; Delta 2642 allele; Genetic diversity; Huntington's disease; Haplotype analysis

Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT. We characterized the genetic diversity of the HD mutation by performing an extensive...