knockout mouse: overview of available data.
To facilitate heteroduplex formation, samples from hemizygous
males were mixed with samples of male wild-type DNA (1:1 w/w) before PCR amplification.
To evaluate APEX detection limits, defined amounts of PCR products of DNA from 6 cell lines homo- or hemizygous
for known mutations were mixed with wild-type PCR products and analyzed in parallel by DHPLC and APEX.
Classically affected hemizygous
males suffer from acroparesthesias, angiokeratoma, and occlusive vascular disease of the kidney, heart, or brain.
Comparative genotyping of polymorphic markers such as microsatellites or single-nucleotide polymorphisms (SNPs) in healthy and tumor tissue can detect the loss of one allele by demonstrating the conversion of a heterozygous marker to a hemizygous
Fabry disease most often affects males, although clinical manifestations in female heterozygotes can range from asymptomatic to a disease as severe as that suffered by hemizygous
affected males (5).
Transgene expression levels for the two 1-month-old mice with hemizygous
Tg lines 113LBoPrP-Tg037 and 113LBoPrP-Tg009 were found to be [approximately equal to] 3x and 0.
These work on the principle that failure of an exon to amplify by PCR in hemizygous
males indicates that the exon is deleted.
Gene sequencing to confirm the diagnosis showed a hemizygous
The same cutoff was used for hemizygous
deletion that showed a loss of one 9p21 signal.
Tetralogy of Fallot is common in individuals with hemizygous
deletions of chromosome 22q11.
1,2) It has been shown that patients with a hemizygous
deletion of the q11 band of chromosome 22 are at a high risk of serious psychiatric illnesses, schizophrenia being the most common of these.