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. Author manuscript; available in PMC: 2015 Apr 1.
Published in final edited form as: Autism Res. 2014 Mar 13;7(2):254–263. doi: 10.1002/aur.1365

Figure 2.

Figure 2

Molecular characterization of CD38 deletion. (A) Figure from UCSC genome browser showing the position of BST1 and CD38, predicted deletion breakpoints based on 1 M SNP data, position of qPCR assays used to validate the deletion, and position of long-range PCR primers used to determine the true breakpoint positions. There are no similar CNV listed in the Database of Genomic Variants v10 (February 2011). Region shown is chr4:15 320 000–15 430 000 (NCBI36/hg18 build). (B) Sanger sequencing of the long-range PCR product from the BST1-F primer spanned the deletion breakpoints and shows the true deletion coordinates to be chr4:15 332 700– 15 415 153 (NCBI36/hg19). TCC microhomology was seen at each end of the deleted region. (C) Sequencing of a 201 bp RT-PCR product confirmed that the reading frame of the fusion transcript was maintained. Similar results were obtained using a second set of primers.