MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.

ABSTRACT: A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT - the 3' and 5' untranslated regions as well as introns 9, 10, 11, and 12 - by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A > G in intron 9 and 123972 T > A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A > G and/or the 123972 T > A variant was you

SUBMITTER: Fang P 

PROVIDER: S-EPMC4158701 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature