Search results for "OMIM : Online Mendelian Inheritance in Man"
showing 3 items of 3 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 …
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. …
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 …