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. Author manuscript; available in PMC: 2011 Sep 1.
Published in final edited form as: Mol Genet Metab. 2010 Jun 10;101(1):62–65. doi: 10.1016/j.ymgme.2010.05.015

Fig. 2.

Fig. 2

Experimental and schematic representations of homozygous deletion in Rab27A gene of patient with Griscelli Type 2 Syndrome.

(A) Illumina® 1M-Duo DNA Analysis BeadChip results illustrating a large scale deletion.

(B) Schematic basis of 47.5-kb deletion relative to the most abundant transcript of the Rab27A gene (GenBank NM_004580). The deletion (shaded gray line) removes the first exon, which is non-coding. The deletion does not contain any coding sequence. Cross-hatched boxes indicate 5’-UTR of the transcript and the checkered box indicates 3’-UTR of all transcripts. Black boxes indicate coding region of Rab27A.

(C) Two primers (block arrows) were used to amplify across the deletion that occurs within the 9-bp stretch shared by the two regions.

(D) Sequence analysis of the breakpoint region. Diagrams are not to scale.