There is a case report which revealed type I von Willebrand factor (VWF) deficiency, FVL and
heterozygote factor V Leiden mutation,
heterozygote methylene tetrahydrofolate reductase C677T (MTHFR) gene mutation, and activated protein C resistance.8
Number of sRyR1 genotypes in normal meat and PSE meat Meat sRyR1 genotype NN Nn nn Normal (19) 19 0 0 PSE (43) 39 4 0 NN = Dominant homozygote; Nn = Recessive
heterozygote; nn = Recessive homozygote.
Through many personal experiences in Haiti the author has observed several problems regarding the identification of sickle hemoglobin and the differentiation of sickle
heterozygotes from homozygotes.
Intragastric pH values and the plasma concentration of PPIs after oral ingestion were significantly lower in EMs namely normal homozygotes (CYP2C19*1/*1) and
heterozygotes (CYP2C19*1/*X) compared to PMs namely mutant homozygotes (CYP2C19*X/*X) where 'X' represents the mutant allele.
We analyzed differences between
heterozygotes and homozygotes for each locus with respect to the various physiological and morphological characteristics using a Wilcoxon rank sums test (JMP Start Statistics 2003 IN 5.1).
A Chi-square goodness of fit was performed to compare the expected 1
heterozygote to 1 homozygote ratio at any given D genome locus.
Table 1 lists single locus statistics and the mean growth rates of homozygotes and
heterozygotes in the two samples.
Annett is undoubtedly correct in asserting that handedness is indeed maintained by a balanced polymorphism, in the sense that it involves more than one allele and those alleles seem to be at an equilibrium in the population; and it is quite probable that the equilibrium is maintained by
heterozygote advantage, although there are other potential mechanisms for maintaining a balanced polymorphism (Cavalli-Sforza & Bodmer, 1971, p.
This study identified a small group of patients without known etiology for altered liver function tests who were
heterozygote for H63D, raising the possibility that individuals who are
heterozygotes could develop phenotypic hemochromatosis even in the setting of H63D mutations.
Which of the following diagnoses can be confused with a compound
heterozygote involving [HbD.sup.Iran]/[[beta].sup.0]-thalassemia using alkaline hemoglobin electrophoresis results?
This report of a [beta] globin compound
heterozygote in trans for the Gly69Ser and Hb S (Glu6Val) mutations, displaying a severe anemic phenotype complicated with a fatal parvovirus B19 chronic infection, challenges the 'quasi-normality' hypothesis of the Hb CH mutation of a possibly remote SubSaharan origin.
In contrast, normal homozygote EMs (CYP2C19*1/*1 ) have both the normal alleles and
heterozygote EMs have one normal allele that leads to the synthesis of active CYP2C19 enzyme leading to efficient metabolism of OPZ to 5-OH-OPZ.