Our data suggest that certain
presumed null alleles, although unable on their own to support basal transcription, may in fact have a substantial impact on disease outcome in compound heterozygous humans, as they do in mouse models.
Short guide RNA was targeted to the sequence corresponding to the CCHa2 peptide - coding region, resulting in the isolation of
putative null alleles for CCHa2 (CCHa2CR - 1, CCHa2CR - 2, and CCHa2CR - 3)(Figs 5A and S5).
Of the Iron Age individuals, three carry at least one
Duffy null allele, protecting against malaria, and two have at least one sleeping - sickness - resistance variant in the APOL1 gene.
In a first step knock - out models with conditional potential (knock - out first allele, tm1a) will be produced from which
tm1b null alleles can be derived for phenotyping
At low - density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of
null alleles at LDLR were at even higher risk (13-fold difference).
Red SNPs indicate discordant homozygous calls between MAGIC and BRLMM, which are indicative of the presence of «
null alleles» (individuals lacking specific binding to either probe, usually because of a variant at the probe binding site).