Words similar to genotype-phenotype
Example sentences for: genotype-phenotype
How can you use “genotype-phenotype” in a sentence? Here are some example sentences to help you improve your vocabulary:
Whereas most published genotype-phenotype correlation studies compare the nucleotide changes at the DNA level with the list of phenotypic features, we feel strongly that studies of the mutant alleles at the RNA and protein level are necessary to take some of the guesswork out of these correlations.
For example, exon-skipping mutations in the central region of the gene, exons 24-32, cause severe phenotypes or neonatal presentations [ 8 ] . But there are exceptions, only four of the many other mutations in this region cause severe phenotypes, while one mutation predicted to lead to skipping of exon 24 was found in a patient with classic MFS [ 5 ] . In contrast, most cysteine substitutions cause classic MFS with a high frequency of lens dislocation, although some patients in our study did not meet the Ghent criteria for diagnosis of MFS [ 9 ] . Amino-acid substitutions not disrupting disulfide bonds may be associated with fibrillinopathies other than MFS, although mutations in the calcium-binding consensus sequence have been reported in individuals with classic MFS [ 5 10 11 12 ] . It is clear from the studies reported so far, that genotype-phenotype correlations are not straight-forward for FBN1 mutations.
It has been reported that 40% of mutations identified in the region between exons 59-65, but only 7% of mutations in other regions, were associated with mild Marfan-like phenotypes [ 12 ] . Our results are in line with the notion of this general genotype-phenotype correlation.
The characterization of the individual components that form protein complexes in skeletal muscle and heart, especially information concerning genotype-phenotype correlations, will increase our understanding of the pathophysiology of human muscle diseases.
This sub-section illustrated the condition-dependent effect of gene deletions on the metabolic genotype-phenotype relation.
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