Search results for "Heredity"
showing 7 items of 247 documents
In-Depth Characterization of Viral Isolates from Plasma and Cells Compared with Plasma Circulating Quasispecies in Early HIV-1 Infection
2012
Background The use of in vitro models to unravel the phenotypic characteristics of circulating viral variants is key to understanding HIV-1 pathogenesis but limited by the availability of primary viral isolates from biological samples. However, overall in vivo genetic variability of HIV-1 within a subject may not be reflected in the viable viral population obtained after isolation. Although several studies have tried to determine whether viral populations expanded in vitro are representative of in vivo findings, the answer remains unclear due to the reduced number of clonal sequences analyzed or samples compared. In order to overcome previous experimental limitations, here we applied Deep P…
The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation
2000
Recently a heterozygote advantage was suggested to explain the high incidence (1:25 carrier individuals in Europeans) of the cystic fibrosis gene. This selective advantage was speculated to be due to a high resistance to chloride-secreting diarrhea, including cholera. Up to now the major efforts to test directly this hypothesis have been limited to animal models.
In vitro evolution of an atrazine-degrading population under cyanuric acid selection pressure: Evidence for the selective loss of a 47kb region on th…
2011
International audience; The adaptation of microorganisms to pesticide biodegradation relies on the recruitment of catabolic genes by horizontal gene transfer and homologous recombination mediated by insertion sequences (IS). This environment-friendly function is maintained in the degrading population but it has a cost which could diminish its fitness. The loss of genes in the course of evolution being a major mechanism of ecological specialization, we mimicked evolution in vitro by sub-culturing the atrazine-degrading Pseudomonas sp. ADP in a liquid medium containing cyanuric acid as the sole source of nitrogen. After 120 generations, a new population evolved, which replaced the original on…
Heredity of interocular similarities in components of refraction: a population-based twin study among 66- to 79-year-old female twins.
2019
Purpose: To examine genetic influences on interocular similarities in ocular refraction and components of refraction among elderly female twins. Methods: Refraction was assessed in 94 monozygotic (MZ) and 74 dizygotic (DZ) female twins aged 66–78 years. Absolute values of interocular differences (Aniso variables) in spherical refraction (SR), refractive astigmatism (AST), spherical equivalent (SE), corneal refractive power (CR), corneal astigmatism (CAST), anterior chamber depth (ACD) and axial length (AL) were calculated. The differences between sisters in each of the Aniso variables were calculated and graded into two categories, best differentiating the groups, here isometropic and aniso…
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
2019
Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women wi…
2021
AbstractBackgroundDue to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown.MethodsSeventy-nine carriers of germline MMR gene pathogenic variant (path_MMR)were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not havin…