Sentence examples for mutation which segregates from inspiring English sources
This intronic mutation, which segregates in a dominant and fully penetrant manner over three generations, abolishes normal LHX4 splicing and activates two exonic cryptic splice sites, thereby predicting two different proteins deleted in their homeodomain sequence.
We focused on the "r1" mutation which segregates at a simple autosomal-recessive locus in our rabbit strains.
In family F505, a two-affected family from Turkish descent, we detected a novel TRPC6 mutation which segregated with disease (Figure 1A).
Analysis of the exome data revealed one non-synonymous heterozygous mutation which segregated in the affected family members and did not appear in dbSNP132 or an in-house exome sequence database.
To search for candidate exon mutations which segregated with the FAP phenotype in kindred 0124, we applied a series of filters to the identified SNVs.
This showed that the new French patient had a different mutation, 458dupA, which segregated with the phenotype in the French family and was not found in 300 European controls.
In 2010, a frameshift mutation in the KCNK18 gene which segregates perfectly with typical MA in a large, multigenerational pedigree was reported [50].
In this family, an SNCA G > A heterozygous mutation at codon 51 causes a glycine to aspartic acid amino acid change (Fig. 1a), which segregates with the disease (Fig. 1b) and was not found in over 4,500 control individuals.
Such results might reflect the presence of mutations of larger effect segregating in particular breed types, such as the PLAG1 (pleomorphic adenoma gene 1) polymorphism (chr14:25001906..25052394), which segregates in Brahman and composite breeds but is close to fixation in B. taurus[ 19, 20].
which segregates for this trait.
Using a combination of traditional linkage studies and inheritance by descent (IBD) approaches with whole exome sequencing (WES) strategies, we identified a novel heterozygous mutation in LMX1B (p.R249Q) which segregated with disease.
