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Characterization of degradation and heterozygote balance by simulation of the forensic DNA analysis process [PDF]
International Journal of Legal Medicine, 2016 Simulation experiments were used to show the impact of varying extraction efficiency, aliquot proportion, and PCR efficiency on the heterozygote balance of a range of diploid and haploid cells. Reducing either parameters introduces variance.
Oskar Hansson +2 more
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Heterozygote deficits in cyst plant‐parasitic nematodes: possible causes and consequences
Molecular Ecology, 2015 International audienceDeviations of genotypic frequencies from Hardy-Weinberg equilibrium (HWE) expectations could reveal important aspects of the biology of populations. Deviations from HWE due to heterozygote deficits have been recorded for three plant-
Josselin Montarry +2 more
exaly +2 more sources
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Heterozygote detection in phenylketonuria
Clinical Genetics, 1977Phenylalanine loading was carried out on 105 parents of children with phenylalanine hydroxylase deficiency and 33 apparently normal individuals with no family history of phenylketonuria. The best discriminant was found to be the logarithmic transformation of the slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration ...
F, Güttler, G, Hansen
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Science, 2003
The evidence for balancing selection at the prion protein gene ( PRNP ) due to kuru in the Fore group of the Papua New Guinea Highlands is compelling (“Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics,” S. Mead et al. , Reports, 25 April, p. [640][1]).
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The evidence for balancing selection at the prion protein gene ( PRNP ) due to kuru in the Fore group of the Papua New Guinea Highlands is compelling (“Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics,” S. Mead et al. , Reports, 25 April, p. [640][1]).
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Heterozygote studies in cystinosis
Clinica Chimica Acta, 1970Abstract The intracellular cystine in the leucocytes and cultured skin fibroblasts of heterozygotes for nephropathic cystinosis is primarily located in a granular cell fraction. Compartmentalization of cystine in a similar fraction has been previously shown for cystinosis homozygotes. The observations suggest that the primary metabolic derangement in
J D, Schulman +3 more
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Gene Expression in Heterozygotes
Nature, 1962IN many cases a gene appears to function only by synthesizing a polypeptide chain through the mediation of ribonucleic acid (RNA), and hence controlling the synthesis of a protein. A mutation may cause a different polypeptide chain to be synthesized, for example, in the haemoglobinopathies, or may result in failure to produce a polypeptide chain at all.
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Detection of heterozygotes for phenylketonuria
Clinica Chimica Acta, 1960Abstract A method is described which can be used to detect the heterozygote (carrier) for phenylketonuria. It is based on the determination of blood tyrosine at various intervals following the ingestion of a large dose (2 mmoles/kg) of l -phenylalanine.
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Hemochromatosis in Heterozygotes
New England Journal of Medicine, 1996Hemochromatosis, first described more than 100 years ago, is a common inherited disorder of iron metabolism in people of European descent.1 Nonetheless, it has been much underdiagnosed and misdiagn...
Lawrie W. Powell, Elizabeth C. Jazwinska
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Cancer risks in A-T heterozygotes
International Journal of Radiation Biology, 1994It is well established that ataxia-telangiectasia (A-T) patients suffer a grossly elevated risk of cancer, particularly lymphoma and leukaemia, but the possibility of an excess cancer risk of cancer in heterozygotes carriers of A-T mutations is more controversial.
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