Genomics & Genetics Weekly
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Ataxia
Research results from J.X. Lin and co-authors update knowledge of ataxia
July 4th, 2008
According to a study from Tokyo, Japan, "Spinocerebellar ataxia type 1 (SCA1; OMIM: #164400) is an autosomal dominant cerebellar ataxia caused by an expansion of CAG repeat, which encodes polyglutamine, in the ataxin-1 (ATXN1) gene. Length of polyglutamine in the ATXN1 protein is the critical determinant of pathogenesis of this disease." "Molecular diagnosis of SCA1 is usually undertaken by assessing the length of CAG repeat configuration using primers spanning this configuration. However, this conventional method may potentially lead to misdiagnosis in assessing polyglutamine-encoding CAG repeat length, since CAT interruptions may be present within the CAG repeat...
Source: Genomics & Genetics Weekly (2008-07-04)
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