Significats de deleterious mutations en anglès

Maintenance of seemingly deleterious mutations implies a selective advantage or positive heterosis.

Understanding this selection is fundamental to evolutionary studies and to the identification of deleterious mutations.

Conclusion Breast cancer family history confers a high CBC risk, even after excluding women with deleterious mutations.

We identified 470 unique sequence variants, of which 113 were deleterious mutations.

Germ-line DNA from a total of 22 individuals was used for sequencing; however no deleterious mutations were detected.

Some of the deleterious mutations were associated with the pathophysiology of WHHL rabbits in addition to the LDLR deficiency.

Bogus exhibits, deleterious mutations, lies!

However, we also found that random homologous chromosome segregation during ploidy reduction can expose deleterious mutations through loss of heterozygosity.

How unisexual animals eliminate deleterious mutations to avoid dead ends is one of the most interesting puzzles in evolutionary genetics.

Instead, populations reach a mutation-selection-drift-migration balance with sufficient among-population variance that some partially recessive, deleterious mutations can be masked upon crossbreeding.

To our knowledge, only 5 deleterious mutations and 2 intragenic duplications have been previously reported in IQSEC2.

No de novo or deleterious mutations in STXBP1 were found in 190 control subjects, or in 142 autistic patients.

Although the genetic diversity of WHHL rabbits was relatively low, they accumulated a large proportion of high-frequency deleterious mutations due to the small population size.

Study participants included individuals with known deleterious mutations in BRCA1 or BRCA2 and individuals with classified or unclassified BRCA variants.

Finally, 45% of our patients with unsolved causes had single deleterious mutations in ABCA4, a recessive disease gene.

Cells with mutations conferring genetic instability normally have a reduced somatic fitness because they have an increased probability of producing deleterious mutations or triggering apoptosis.