Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

Spurlock, Gillian, Jim, Hoi-Ping and Upadhyaya, Meena 2010. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle & Nerve 42 (5) , pp. 820-821. 10.1002/mus.21766

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Abstract

The molecular defect in fascioscapulohumeral muscular dystrophy (FSHD) has proved difficult to explain. Although contraction within a polymorphic tandem repeat located at 4q35.2 is unequivocally associated with disease expression, the specific biological mechanism involved in the phenotype has yet to be resolved. Several studies have demonstrated that a specific 4q35.2-located haplotype (4qA161) is also closely associated with FSHD expression. Therefore, in this study we analyzed the haplotype association in a large cohort of sporadic and familial FSHD families from the UK. In all cases the affected individuals displayed the 4qA161 haplotype.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	4qA, FSHD, haplotype analysis, subtelomeric regions, SSLP
Publisher:	John Wiley & Sons
ISSN:	0148-639X
Last Modified:	04 Jun 2017 03:34
URI:	https://orca.cardiff.ac.uk/id/eprint/22928

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