Haplotype Analysis of the First A4V-SOD1 Spanish Family : Two Separate Founders or a Single Common Founder?
Garcia, Cecilia (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Vidal-Taboada, José Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Syriani, Enrique (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Salvado, María (Universitat Autònoma de Barcelona. Departament de Medicina)
Morales, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Gamez, Josep (Universitat Autònoma de Barcelona. Departament de Medicina)

Date:	2019
Abstract:	Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isolated sporadic cases (sALS). At least 186 different mutations in the SOD1 gene have been reported to date. The possibility of a single founder and separate founders have been investigated for D90A (p. D91A) and A4V (p. A5V), the most common mutations worldwide. High-throughput single nucleotide polymorphism genotyping studies have suggested two founders for A4V (one for the Amerindian population and another for the European population) although the possibility that the two populations are descended from a single ancient founder cannot be ruled out. We used 15 genetic variants spanning the human chromosome 21 from the SOD1 gene to the SCAF4 gene, comparing them with the population reference panels, to demonstrate that the first A4V Spanish pedigree shared the genetic background reported in the European population.
Grants:	Instituto de Salud Carlos III PI16/01673 Instituto de Salud Carlos III PI19/00593 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR00939
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	Frontiers in genetics, Vol. 10 (august 2019) , p. 1109, ISSN 1664-8021

DOI: 10.3389/fgene.2019.01109
PMID: 31781168

9 p, 1.7 MB

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