A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21

Abstract

Linkage analysis of type 1 diabetes sib pair families (n = 334) has suggested two separate regions of human chromosome 6q are linked to disease (designated IDDM5 and IDDM8). To test if these are false positive results, all available sib pair families (n = 429) were typed using a 92% informative map of chromosome 6q and multipoint analysis. The two regions still showed positive evidence of linkage, most notably the proterminal region, 6q27, corresponding to IDDM8 (MLS = 2.57, p = 0.0006; λ_s = 1.17). In addition, some evidence of transmission disequilibrium was seen with marker a046xa9 (IDDM5).