Neurology Research International / 2011 / Article / Tab 2 / Clinical Study
High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients Table 2 SOD1 mutations in SALS patients of the different countries.
Country Total SALS No. of SOD1 SOD1/ TotalMutations identified Screening method Author, year North England 46 1 2.1 D101N SSCP Jones et al. 1994 [14 ] Scotland 57 4 7.0 E21K, I113T SSCP Jones et al. 1995 [2 , 15 ] Scandinavia 355 14 3.9 V14G, D90A (hetero & homo) SSCP Andersen et al. 1997 [16 ] England 155 4 2.6 D90A, I113T, V118KTGPX SSCP Jackson et al. 1997 [17 ] England 175 5 2.8 G72S SSCP Shaw et al. 1998 [18 ] Belgium 69 3 4.3 D90A, N139N, IVS + 19A > G SSCP Aguirre et al. 1999 [3 ] Italy 48 3 6.3 D90A (homo), I113T, A95T DS Gellera et al. 2001 [22 ] Spain 87 1 1.2 N65S SSCP García-Redondo et al. 2002 [19 ] Italy 225 0 0 SSCP Batlistini et al. 2005 [20 ] Spain (Catalonia) 94 4 4.2 D90A, N139H, A140A DS Gamez et al. 2006 [4 ] Italy 66 3 4.5 K135X, N65S, A95T DHPLC Corrado et al. 2006 [5 ] Italy 303 2 066 N19S, E133ΔE DHPLC Chiò et al. 2008 [6 ] Japan 184 3 1.6 C6Y, Q22H, S134T HRM This article group1 Japan 255 4 1.5 K3E, G93S HRM This article group2 Total 2119 51 2.4
DS: direct sequence (no screening method in the article).