Abstract
Is it Williams Syndrome? GTF2I Implicated in Sociability and GTF2IRD1 in Visual-Spatial Construction Revealed by High Resolution Arrays
Highlights
Genetic contributions to human cognition and behavior are clear but difficult to define
The distinctive pattern of physical, cognitive, and behavioral traits shown in Williams syndrome (WS) is one facet that allows the parsing of the WS profile and so careful comparisons of differences between individuals with WS
Coupled with better methods that sharpen breakpoint analyses of individuals with atypical deletions, we have recently seen the dawn of drawing conclusions about specific genes and the phenotypes for which they are responsible
Summary
Chromosomal breakpoints were mapped to sub-kilobase resolution using high resolution DNA tiling arrays. DNA from cell lines or individuals was used to probe a custom high density array of chromosome 7 with a median distance of 1/90 bp ;the array contained [45-85] bp oligonucleotides probes which were adjusted in their C+G content to yield similar optimum hybridization temperatures (isothermal array). The probes tiled all of chromosome 7, including the short arm to allow the identification of breakpoints at [200-300] bp resolution (Urban et al, 2006; Korbel et al, 2007). Competetive hybridization schemes utilize similar approaches for BAC arrays and oligonucleotide arrays. On the left is shown the approach for oligonucleotide array generation using maskless sequencing
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