An improved method for heterozygote detection
of cystinosis, using polymorphonuclear leukocytes.
With one gel, one array and one software platform, users can perform DNA sequencing, heterozygote detection
, confirmatory sequencing, mutation analysis, allele identification, SNP (single nucleotide polymorphism) scoring, microsatellite instability and amplified fragment length polymorphism fingerprinting.
In contrast to heterozygote detection
, the 2 different homozygotes were very hard to distinguish from each other, as expected by their predicted [DELTA][T.
For heterozygote detection
, the percentage of average peak spacing, the height ratio, and the sensitivity were set to 90%, 30, and 0.
Thermal fractionation of serum hexosaminidases: applications to heterozygote detection
and diagnosis of Tay-Sachs disease.
Mutation scanning for heterozygote detection
(as opposed to complete genotyping) is another application of amplicon melting analysis.
in Fabry disease utilizing multiple enzyme activities.
Potential value of polymorphonuclear leucocytes for heterozygote detection
This may be attributable to inherent problems in the fluorescence-based DNA sequencing, especially for heterozygote detection
I-Cell disease and pseudo-Hurler polydystrophy: heterozygote detection
and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants.
Part of the base calling algorithm is the selection of thresholds for heterozygote detection
The frequency of ID heterozygote detection
was the highest using the stepdown method (47%), whereas it was the lowest using the conventional method (9%; Table 1).