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This result indicates a non-significant effect of null alleles on genetic differentiation estimates.
However, the functional redundancy of these genes might hinder the effect of null mutations on single genes.
Monte Carlo simulations were used to calculate probability of identity and explore the effect of null alleles on genotyping accuracy.
After accounting for the effect of null alleles, INEst inferred a global inbreeding coefficient (F = 0.026 ± 0.089) not significantly different from zero, indicative of an outbreeding species.
In order to detect the phenotypic effect of null mutations in SBEIIa genes, amylose content was measured in the three single mutants SBEIIa- A -1, SBEIIa- B -1 and SBEIIa- D -1 (Table 4).
As the effect of null alleles in FLG is semi-dominant, in addition to genotyping R501X/rs6181671, we genotyped the second most common null mutation in this gene, 2282del4, which has a reported minor allele frequency (MAF) of 0.01 0.02 9 in 384 individuals (a random selection of cases and controls), and only one heterozygous individual was identified.
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Although we cannot rule out contributions of linked variation to the melanic phenotypes possessed by mice from New Hampshire and Alaska, given the likely effects of the Δ125kb and Q65term mutations and the known effects of null Agouti alleles in other taxa, it is very likely that these mutations represent the causative variation underlying these melanic phenotypes.
These data suggest that the splice mutant Tnnt2 protein results in an early 'gain-of-function' effect on embryonic cardiomyocyte Ca2+ handling, quite distinct from the effects of null tnnt2 alleles (TNNT2atg).
Furthermore, mutation of all eight ACS genes in Arabidopsis was found to result in embryo lethality, in contrast to the relatively modest developmental effects of null mutants in the ethylene signalling components.
Further analyses based on FST values calculated only considering the five loci with low frequencies of null alleles (RhA108, RhB107, RhC112, RhD2 and RhB2; Table S1) provided analogous results (not shown), indicating that the effects of null alleles on the obtained results are minimal (e.g. Phillipsen et al. 2015).
An Iranian study showed that the presence of GSTM1 null genotype and the synergic effect of GSTM1 null and GSTT1 null genotypes were associated with an increased risk of T2DM development but there was no significant correlation observed between GSTM1 null and GSTT1 null genotypes and the risk of DR occurrence [ 37].
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