Sentences with phrase «null allele in»

Not exact matches

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.

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.

In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5).

Recently, proteins originating from presumed null alleles were biochemically characterised as inactive in basal transcription [27], providing an explanation as to why these alleles failed to rescue lethality in haploid S. pombe with a null mutation in the XPD homologue rad15 [19].

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

Our data suggest a re-evaluation of the contribution of «null» alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

Some of these alleles fail to support viability in a haploid Schizosaccharomyces pombe yeast strain with a null mutation in the XPD homologue rad15 and are thus considered devoid of significant biological activity [19].

Flpe - and Cre - mediated recombination in vitro generated ES cell lines that contained a conditional or null Sema3B allele, respectively, which were established as homozygous alleles in mice.

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

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).

The entire coding region of the progranulin gene was deleted in the null allele.

To test for heterozygote deficiency, as might result from the presence of null (nonamplifying) alleles or inadvertent pooling of subpopulations (Wahlund 1928), we tested 1 - tailed probabilities of departure from Hardy - Weinberg equilibrium, using the Markov chain exact test in GENEPOP.