Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that ... C Klein,PP Pramstaller,B Kis,... -...
Linkage disequilibrium is a phenomenon in genetics in which the distribution of an allele is not independent of other alleles...
A synergic interaction between the prothrombin 20210 GA genotype and the factor V Leiden mutation, both potentially affecting the prothrombinase complex, was suggested by the early onset of thrombosis (median age 22 years) in doubly heterozygous patients. The association of the 20210 A allele with ...
However, a highly significant correlation was found between maternal ABCA1 genotype and the severity score of the SLOS patients, which is mainly calculated by taking into account external malformations. The rare allele of the common ABCA1 SNP p.Arg1587Lys in the mother was found to be ...
We refer to this allele as Hba1Δ36–39. The expression of the mutant alpha globin protein was observed in immunoprecipitate from lysed RBCs, in which an approximate 400 Da peak shift (corresponding to the loss of four amino acids from the polypeptide chain) was observed in a matrix-...
We used a panel of 391 microsatellite markers to genotype DNA pools derived from affected persons (29 total), obligate heterozygotes, and unrelated unaffected population-matched controls. Initially, locus D17S1299 exhibited an alteration in allele distribution between the “affected” pools of DNA and...
Loss of one allele during PCR amplification, termed allelic dropout (ADO), is common in single-cell genotyping and can compromise the accuracy of downstream analysis due to misassignment of heterozygous mutant cells as WT. We used two strategies to estimate ADO. In four loci, heterozygous germlin...
MiRNome expression profile of mouse brain identified in all samples 231 miRNAs, with an average of 258 miRNAs detectable per sample. Among these miRNAs, 2 were significantly deregulated in wild type compared to SNAP-25± heterozygous mice: miR-451a and miR-425-5p. Five other miRNAs were differ...
We predict that Iso-Y9 is fixed for one of the derived A haplotypes. For illustration purposes, we have shown fixed allele frequencies (AFs) for the A1 haplotype. The remaining Iso-Y lines are all heterozygous with the AB genotype. There are no BB individuals. Individuals within the Iso-Y...
The adjacent residue, 627 (631 in A. thaliana), which has an experimentally demonstrated key role in selectivity control, is yellow and drawn as sticks. d Side view of the non-serpentine allele. e Top view of the non-serpentine allele with the detail of the pore opening depicted in the ...