The minor allele frequency (MAF) was calculated by adding the total number of alleles and then determining the rate of the least frequent allele among the homozygotes, hemizygotes
, and heterozygotes.
All classically affected hemizygote
Fabry patients and all heterozygous Fabry females with relatives with classic disease manifestation examined so far showed abnormally high plasma concentrations of lysoGb3.
In addition, the [F.sub.2] populations derived from both transformed lines and the recurrent parent cultivars were progeny-tested to determine if the observed numbers of homozygotes, hemizygotes
, and wild-type plants fit the expected 1:2:1 genotypic ratio for a single-locus model of inheritance.
Cardiac involvement in Fabry's is frequent and is more serious in hemizygotes
. Deposits of neutral glycosphingolipids within cardiocytes lead to conduction abnormalities like short PR interval, AV blocks, supra ventricular and ventricular arrhythmias.
The offspring from the 8th generation were used as donors that were hemizygotes
for the Green Fluorescent Protein (GFP) locus.
DHs are also a powerful tool in transgenesis, to avoid hemizygotes
and save time and resources in the production of plants transformed with the transgene in both homologous chromosomes.
A study of more than 2000 Gambian and Kenyan children found that the common African form of G-6-PD deficiency (G-6-PDA-) is associated with about 50% reduced risk of severe malaria in female heterozygotes and in male hemizygotes
. Reduced parasite replication in G-6-PD deficient erythrocytes is thought to be the mechanism of protection (9) but the parasite appears to counter this by manufacturing G-6-PD itself (10).
The [F.sub.3] plants in these [F.sub.2:3] lines were either all homozygous for the CP4 EPSPS transgene or a combination of homozygotes and hemizygotes
The magnitudes of QTL effects estimated in this study refer to the difference between a homozygote and a heterozygote for autosomal QTL or the difference between the two hemizygotes
for X-linked QTL.
In this study, we established a profile of sphingolipid species in the urine of Fabry hemizygotes
and heterozygotes and in unaffected controls.
We have used these assays to determine the concentration of [alpha]-galactosidase activity and protein in samples from Fabry hemizygotes
, heterozygotes, apparently healthy controls, and other LSD patients.
When only the patient is sampled, the methods become uninformative, and the use of a method such as the characterization of a deletion junction fragment is required to separate homozygotes and hemizygotes
. In our series, most of the patients noninformative for the three STRs were revealed to be hemizygotes
by the characterization of a deletion junction fragment with probe pNEA102.