Comparison of these SIM mode spectra does not reveal the presence of the HbC variant in either the heterozygous or homozygous form.
The mutated alleles B, C, or D are collectively termed O and their correspondent wild-type alleles are jointly referred to as variant A, with the presence of any given O variant (in either the heterozygous or homozygous state) resulting in MBL deficiency [ 8, 13].
To focus on sequence variants that might play a functional role in the pathophysiology of severe β-cell failure in A−β− KPD, we selected those that had an MAF of <10% in at least one of the ethnic groups and resulted in a change in an amino acid residue or a sequence variant in either a known DNA binding element or within the proximal promoter region (Table 2).
However, the risk estimates for NHL among individuals with lighter eye and hair color appeared more pronounced in those with either variant IRF4 allele than in those with the corresponding common homozygote genotype.
Such differences may be the result of tissue or cell line-specific variants in either the components of the ubiquitin proteasome pathway or in their modification by intracellular oxidants or reductants.
Classification methods in the past have attempted to place variants in either the pathogenic or the little-clinical significance categories.
Because of the very low frequency of the heterozygous DNAs, we found it unlikely to expect the presence of corresponding homozygous variants in either the control population or the NCI panel and no systematic sequencing of the PCR products was undertaken.
The phenotypic distributions of the C. jejuni load in birds carrying either variant are striking, with some chickens absolutely resistant to infection and others carrying loads of up to 10 bacteria after inoculation.
Of the 301 normal copy-number samples, none were found to be a misclassified deletion variant sample in either the AB1 assay or in at least two repeats of the P1 assay giving a false-negative deletion assignment rate of 0/301.
However, in more recent in vitro studies either the variant has shown more subtle increases in the binding affinity (Befort et al., 2001) or no differences have been observed between the variant and normal receptors (Beyer et al., 2004); some studies have even indicated that the 118G (allele allele would result in decreased mRNA and protein levels (Heinz et al., 2005; Zhang et al., 2005).
