Search results for "Mendelian inheritance"
showing 10 items of 20 documents
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences.
2009
Abstract Background: Reliable PCR amplification of DNA fragments is the prerequisite for most genetic assays. We investigated the impact of G-quadruplex– or i-motif–like sequences on the reliability of PCR-based genetic analyses. Methods: We found the sequence context of a common intronic polymorphism in the MEN1 gene (multiple endocrine neoplasia I) to be the cause of systematic genotyping errors by inducing preferential amplification of one allelic variant [allele dropout (ADO)]. Bioinformatic analyses and pyrosequencing-based allele quantification enabled the identification of the underlying DNA structures. Results: We showed that G-quadruplex– or i-motif–like sequences can reproducibly …
Genetic basis of trichome production in Arabidopsis lyrata.
2002
Leaf trichomes may protect plants against herbivorous insects, and may increase tolerance to drought and UV-radiation. The perennial herb Arabidopsis lyrata (Brassicaceae) is polymorphic for trichome production and occurs in a glabrous and trichome-producing form. In addition, there is quantitative variation in trichome density among trichome-producing plants. To examine the genetic basis of glabrousness, we conducted controlled crosses with plants originating from two natural populations in Sweden (one polymorphic for trichome-production, and one consisting of glabrous plants only). In addition, we estimated the heritability of trichome number from parent-offspring regressions for plants o…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…
Girl With Partial Turner Syndrome and Absence Epilepsy
2007
This report describes a 16-year-old girl with short stature (-5 standard deviations), normal puberty, panic attacks, absence epilepsy, some stigmata of Turner syndrome, and a Madelung deformity. Routine chromosomal analysis revealed a female karyotype with one abnormal chromosome X, with the suspicion of additional material on the short arm. With fluorescent in situ hybridization and array-multiplex amplifiable probe hybridization methodology, a complex aberration was detected, with a deletion of the distal part of Xp22.33 (including the short-stature homeobox gene) and a duplication of Xp22.32-p22.12 proximal to the deleted segment. The deletion in our patient involves the Xp22.33 region. …
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
2014
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…
Genetic, clinical and radiographic signs in knee osteoarthritis susceptibility
2014
Abstract INTRODUCTION: Osteoarthritis (OA) is considered to be a multifactorial and polygenic disease and diagnosis is mainly clinical and radiological. Correlation between radiographic data and clinical status has been reported. However, very few studies, especially in Caucasian people, describe the association between the Kellgren and Lawrence OA grading scale (KL) and genetic alterations to better understand OA etiopathogenesis and susceptibility. In order to update the knee OA grading, in this study we assessed the associations between KL grade, clinical features such as American Knee Society Score (AKSS), age, and polymorphisms in the principal osteoarthritis susceptibility (OS) genes …
Using genetically-defined rodent strains for the identification of hippocampal traits relevant for two-way avoidance behavior: a non-invasive approach
1989
Genetically-defined rodent strains permit the identification of hippocampal traits which are of functional relevance for the performance of two-way avoidance behavior. This is exemplified here by analyzing the relationship between infrapyramidal mossy fibers (a tiny projection terminating upon the basal dendrites of hippocampal pyramidal neurons) and two-way avoidance learning in about 800 animals. The necessary steps include 1) identification of structural traits sensitive to selective breeding for extremes in two-way avoidance, 2) testing the robustness of the associations found by studying individual and genetical correlations between hippocampal traits and behavior, 3) establishing caus…
Prokaryotic symbiotic consortia and the origin of nucleated cells: A critical review of Lynn Margulis hypothesis.
2021
The publication in the late 1960s of Lynn Margulis endosymbiotic proposal is a scientific milestone that brought to the fore of evolutionary discussions the issue of the origin of nucleated cells. Although it is true that the times were ripe, the timely publication of Lynn Margulis' original paper was the product of an intellectually bold 29-years old scientist, who based on the critical analysis of the available scientific information produced an all-encompassing, sophisticated narrative scheme on the origin of eukaryotic cells as a result of the evolution of prokaryotic consortia and, in bold intellectual stroke, put it all in the context of planetary evolution. A critical historical reas…
1993
The formulation of the synthetic theory represented a significant-advance for evolutionary studies, which had previously been hampered by apparently irreconcilable contractions. Combining Mendelian laws with Darwinism, it joined the antitheses in a synthesis which was subsequently refined and completed. Today, its content may not be simply rejected or ignored, although there are those who think of it as little more than a corpse.
Inheritance in the water frog Rana ridibunda Pallas, 1771 - Is it Mendelian or hemiclonal?
2008
The genome of Rana ridibunda has been detected in all known hybridogenetic water frog systems. This raises the question whether R. ridibunda is pre-adapted to reproduce hemiclonally by hybridogenesis. We allozymatically compared genotypes of primary oocytes and somatic cells of R. ridibunda females from several sites in southern France. In case of hemiclonal reproduction only one allele per locus is expected to be detectable in oocytes. However, patterns detected from oocytes of analysed females were not different from those of sexually reproducing water frogs. We therefore conclude that R. ridibunda in southern France reproduces sexually and is not pre-adapted to hemiclonal reproduction.