Search results for "A* algorithm"

Inbreeding, energy use and condition

2009

In energetic terms, fitness may be seen to be dependent on successful allocation of energy between life-history traits. In addition, fitness will be constrained by the energy allocation ability, which has also been defined as condition. We suggest here that the allocation ability, estimated as the difference between total energy budget and maintenance metabolism, may be used as a measure of condition. We studied this possibility by measuring the resting metabolic rate and metabolism during forced exercise in Gryllodes sigillatus crickets. To verify that these metabolic traits are closely related to fitness, we experimentally manipulated the degree of inbreeding of individuals belonging to t…

Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population

1999

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…

Assignment of signal transducer and activator of transcription 5A (STAT5A) to porcine chromosome 12p13→p11 by radiation hybrid panel mapping

2005

Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

2014

Significance Eye, hair, and skin pigmentation are highly variable in humans, particularly in western Eurasian populations. This diversity may be explained by population history, the relaxation of selection pressures, or positive selection. To investigate whether positive natural selection is responsible for depigmentation within Europe, we estimated the strength of selection acting on three genes known to have significant effects on human pigmentation. In a direct approach, these estimates were made using ancient DNA from prehistoric Europeans and computer simulations. This allowed us to determine selection coefficients for a precisely bounded period in the deep past. Our results indicate t…

Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene

2017

Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…

1999

The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…

COMPARING EVOLVABILITIES: COMMON ERRORS SURROUNDING THE CALCULATION AND USE OF COEFFICIENTS OF ADDITIVE GENETIC VARIATION

2012

In 1992, David Houle showed that measures of additive genetic variation standardized by the trait mean, CVA (the coefficient of additive genetic variation) and its square (IA), are suitable measures of evolvability. CVA has been used widely to compare patterns of genetic variation. However, the use of CVAs for comparative purposes relies critically on the correct calculation of this parameter. We reviewed a sample of quantitative genetic studies, focusing on sire models, and found that 45% of studies use incorrect methods for calculating CVA and that practices that render these coefficients meaningless are frequent. This may have important consequences for conclusions drawn from comparative…

A New Mutation in the Ryanodine Receptor 2 Gene (RYR2 C2277R) as a Cause Catecholaminergic Polymorphic Ventricular Tachycardia

2015

Germline JAK2 L611S mutation in a child with thrombocytosis

2018

Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions

2009