Sentences with word «homozygosity»

The ultimate goal of inbreeding is to fix and preserve the traits that the breeder is looking for by increasing homozygosity in the dog's genetic pool.

Inbreeding increases homozygosity and decrease heterozygosity.

Homozygosity mapping of 5 cases (4 full - sibs, 1 half - sib) and 5 controls (2 parents, 3 full - sibs) via Illumina CanineHD SNP genotyping BeadChips identified a single chromosome (canine chromosome 36; CFA36) of interest where the gene containing a responsible mutation is expected to be located.

This can cause a further issue with homozygosity of genetic material.

Löffler, J., Trojovsky, A., Casati, B., Kroisel, P.M. & Utermann, G. Homozygosity for the W151X stop mutation in the δ7 - sterol reductase gene (DHCR7) causing a lethal form of Smith - Lemli - Opitz syndrome: retrospective molecular diagnosis.

This lets us ask, for example, whether homozygosity for certain very rare coding mutations would be lethal to humans because such homozygotes can (theoretically) be found in isolates.

Furthermore, the heterozygous knock in mouse serves as a better animal model of the human disorder, as compared to the homozygous mouse, given that Huntington disease homozygosity is very rare in humans.

The coefficient of inbreeding is an equation which expresses the expected percentage of homozygosity arising from a given Sire and Dam, meaning, the probability of how genetically similar they are.

The reason for this is because of the closed gene pool and the impact it has had in causing tremendous homozygosity in the genes of dogs.

The incidence of autoimmune diseases in IG from the USA may decrease with a concerted effort to decrease homozygosity across the genome and especially in the DLA region.

The Bouvier des Flandres is a breed which exhibits a relatively high level of homozygosity due to inbreeding and numerous inherited disorders are believed to have risen in prevalence as a result [25].

Moreover, there was a high level of homozygosity among the dominant DLA class I (19 %) and II (42 %) haplotypes.

From a genetic point of view, this translates to what percentage of the genome is identical on both its maternal and paternal strands (also known as homozygosity).

Genotypes revealed homozygosity in the affected dogs for markers flanking COLQ, providing evidence that the segment on chromosome 23 is IBD (Figure 5).

The resultant inbreeding has reduced genetic diversity, and increased homozygosity, in contemporary dogs.

Furthermore, homozygosity for null mutations at CYP2F1 was found associated with higher plasma interleukin - 8 concentrations; and at either A3GALT2 or NRG4, with markedly reduced plasma insulin C - peptide concentrations; hence identifying novel phenotypic associations at these genes.

In Drosophila, we found that MCR mutations efficiently spread from their chromosome of origin to the homologous chromosome, thereby converting heterozygous mutations to homozygosity in the vast majority of somatic and germline cells.

The block of homozygosity was not observed in controls except for one dog (dog number 17 in Appendix 1).

MCR uses the initial mutated allele to cause a mutation in the allele on the opposing chromosome and thus the homozygosity of the trait.

However, are results are highly reproducible, i.e., found in 15 independent heterozygous transgenic lines and the two independent lines taken to homozygosity.

Absence or reduced heterozygosity means that a patient's genome contains long stretches of homozygosity, which can be problematic if that region harbors a variant in an autosomal recessive disease gene.

However, APOE - ɛ 4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants.

Objective: To identify genetic factors that, next to APOE - ɛ 4 homozygosity, contribute to the development of AD.

Next to APOE - ɛ 4 homozygosity, we found that all four affected family members carried a rare variant in the VPS10 domain of the SORL1 gene, associated with AβPP processing and AD risk.

Conclusion: We hypothesize that next to APOE - ɛ 4 homozygosity, impaired SORL1 protein function, and possibly impaired TSHZ3 function, further disturbed Aβ processing.

We demonstrate an excess of homozygosity and rare protein - coding variants in Iceland.

When it comes to purebred tests, this kit adds yet another feature called the Homozygosity Profile that helps measure genetic markers.

With that in mind, all genotype calls on CFA16 were aligned to identify a homozygosity block, that is, where all genotype calls for all affected dogs were homozygous, between positions 27,854,074 and 30,597,700 — a 2.74 Mb interval (Figure 3; Appendix 1).

Thus, this homozygosity block represents the region of absolute linkage disequilibrium (LD) of crd3 in the GIT population examined

To evaluate the power of association mapping by homozygosity, we analyzed genotype calls from just the 20 affected dogs (59,408 SNP calls from autosomal chromosomes) to identify homozygosity blocks greater than 1.0 Mb.

This study examines genetic diversity among 102 registered English Bulldogs used for breeding based on maternal and paternal haplotypes, allele frequencies in 33 highly polymorphic short tandem repeat (STR) loci on 25 chromosomes, STR - linked dog leukocyte antigen (DLA) class I and II haplotypes, and the number and size of genome - wide runs of homozygosity (ROH) determined from high density SNP arrays.

Ten English bulldogs and 10 Standard Poodles were randomly selected and their SNP arrays interrogated for runs of homozygosity (ROH) using PLINK [30].