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. Author manuscript; available in PMC: 2016 Jan 31.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2015 Feb;60(2):182–191. doi: 10.1097/MPG.0000000000000595

a. Sanger sequencing reveals heterozygosity for a novel variant -13909C>A in individuals 64 and 71. Individuals 11 and 82 are homozygous C/C for -13909, so the -13909C>A variant only explains the equal allelic expression in individuals 64 and 71.

b. -13910C>T and -13909C>A are on different haplotypes. DNA from individuals 64 and 71 was cloned and sequenced, showing that the -13909A allele is on the -13910C haplotype.

a. Sanger sequencing reveals heterozygosity for a novel variant -13909C>A in individuals 64 and 71. Individuals 11 and 82 are homozygous C/C for -13909, so the -13909C>A variant only explains the equal allelic expression in individuals 64 and 71.

b. -13910C>T and -13909C>A are on different haplotypes. DNA from individuals 64 and 71 was cloned and sequenced, showing that the -13909A allele is on the -13910C haplotype.