Deleterious alleles segregating in populations of diploid organisms have a remarkable trend to be,at least, partially recessive. This means that, when they occur in homozygosis (double copies), they reduce fitness by more than twice than when they occur in heterozygosis (single copy). What doe...
A. Some mutations produce alleles that are recessive and may not be expressed. B. Some unAll humans carry two mutations in exon 7 of FOXP2, derived relative to other primate outgroups. Why do scientists think that these mutations...
Mutations create new alleles that ___. (a) are beneficial to the organism's fitness (b) have no effect on the fitness of the organism (c) decrease the fitness of the organism (d) increase diversity at a genetic locus (e) All of the abov...
As deleterious germline mutations in BRCA1 and BRCA2 confer a greatly increased risk of breast cancer, some sequence variants may be only moderate or low penetrant alleles. Conclusion We detected 204 families harbouring deleterious BRCA1 mutations (44 different), and 90 families harbouring BRCA2 ...
Rather than tagging single haplotypes bearing a large number of rare causative alleles, we find that significant SNPs in a GWAS tend to tag single causative mutations of small effect relative to other mutations in the same gene. Our results emphasize the importance of evaluating the power to ...
However, this study also found genetic heterogeneity between different ancestry groups for less frequent alleles. Rare variants are even more likely to be specific to a particular population, as was demonstrated by a recent sequencing study in Korean population [14]. It was also demonstrated that ...