Search results for "A* algorithm"

Application of DNA Polymorphisms in Paternity Testing in Germany: Solution of an Incest Case Using Bacteriophage M13 Hybridization with Hypervariable…

1988

More than 25 blood, serum, and enzyme polymorphisms have been introduced into paternity testing in Germany in recent years (Rittner, 1975). If a “no” decision is defined by exclusion, and a “yes” decision requires a probability of 99.73 % or more, more than 90 % of court cases can be solved in this respect. A few cases not being clarified by a standard expertise include: 1) Cases with more than one alleged man if the men and/or the mother and the men are related. 2) Some cases where the putative father is deceased, and neither the parents nor the legitimate offspring are available for the study. 3) Cases where possible exclusion in a given polymorphic system interferes with an overall evide…

Screening for multiple hereditary hypercoagulability factors using the amplification refractory mutation system

2003

Many hereditary factors have been implicated in the development of arterial and/or venous thromboembolic diseases. A number of these risk factors can be identified by the amplification refractory mutation system (ARMS). However, the underlying technical conditions for performing ARMS are highly variable, and depend on which risk factors are being analyzed. We have now developed a novel ARMS-based system to simultaneously screen for multiple hypercoagulability factors under identical PCR conditions. This can greatly simplify the process of screening for hereditary hypercoagulability.

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.

2013

No abstract available

SARS-CoV-2 genome surveillance in Mainz, Germany, reveals convergent origin of the N501Y spike mutation in a hospital setting

2021

AbstractWhile establishing a regional SARS-Cov-2 variant surveillance by genome sequencing, we have identified three infected individuals in a clinical setting (two long-term hospitalized patients and a nurse) that shared the spike N501Y mutation within a genotype background distinct from the current viral variants of concern. We suggest that the adaptive N501Y mutation, known to increase SARS-CoV-2 transmissibility, arose by convergent evolution around December in Mainz, Germany. Hospitalized patients with a compromised immune system may be a potential source of novel viral variants, which calls for monitoring viral evolution by genome sequencing in clinical settings.

The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening.

2013

Largely because of efforts required to complete the Human Genome Project, DNA sequencing has undergone a steady transformation with still-ongoing developments of high-throughput sequencing machines for which the cost per reaction is falling drastically. Similarly, the fast-changing landscape of reproductive technologies has been improved by genetic approaches. Preimplantation genetic diagnosis and screening were established more than two decades ago for selecting genetically normal embryos to avoid inherited diseases and to give the highest potential to achieve stable pregnancies. Most recent additions to the IVF practices (blastocyst/trophectoderm biopsy, embryo vitrification) and adoption…

A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism

2020

We investigated the genetic cause of thyroid dyshormonogenesis in a girl with congenital hypothyroidism. Genetic analysis showed that she was homozygous for a hitherto not described mutation (c.1432_1433delGT, p.V478KfsX11) in the solute carrier family 26 member 7 (SLC26A7) gene. SLC26A7 is proposed to be an anion transporter in the thyroid gland. The mutation leads to a frameshift and a premature stop codon. The predicted protein is truncated and very likely to be nonfunctional if it was expressed at all. In addition, in silico studies predict the mutation to be pathogenic.

Dejerine-Sottas neuropathy associated with De Novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

1998

Gene Duplication Models and Reconstruction of Gene Regulatory Network Evolution from Network Structure

2016

The work was supported by Latvian Council of Science grant 258/2012 and Latvian State Research programme project NexIT (2014-2017).

Homemade Site Directed Mutagenesis of Whole Plasmids

2009

Site directed mutagenesis of whole plasmids is a simple way to create slightly different variations of an original plasmid. With this method the cloned target gene can be altered by substitution, deletion or insertion of a few bases directly into a plasmid. It works by simply amplifying the whole plasmid, in a non PCR-based thermocycling reaction. During the reaction mutagenic primers, carrying the desired mutation, are integrated into the newly synthesized plasmid. In this video tutorial we demonstrate an easy and cost effective way to introduce base substitutions into a plasmid. The protocol works with standard reagents and is independent from commercial kits, which often are very expensi…

A genome-wide view of Caenorhabditis elegans base-substitution mutation processes

2009

Knowledge of mutation processes is central to understanding virtually all evolutionary phenomena and the underlying nature of genetic disorders and cancers. However, the limitations of standard molecular mutation detection methods have historically precluded a genome-wide understanding of mutation rates and spectra in the nuclear genomes of multicellular organisms. We applied two high-throughput DNA sequencing technologies to identify and characterize hundreds of spontaneously arising base-substitution mutations in 10 Caenorhabditis elegans mutation-accumulation (MA)-line nuclear genomes. C. elegans mutation rate estimates were similar to previous calculations based on smaller numbers of m…