Explore chapters and articles related to this topic
The Impacts of Modern Agriculture on Plant Genetic Diversity
Published in Bill Pritchard, Rodomiro Ortiz, Meera Shekar, Routledge Handbook of Food and Nutrition Security, 2016
Alongside the use of molecular markers in genetic resources conservation activities, DNA banks emerged as a complement – not a replacement – of traditional ex situ conservation, based on the fact that DNA alone does not allow the regeneration of biodiversity, as seeds and other tissues do. Yet DNA is a resource that can be distributed among scientists with interests in diverse areas of biodiversity, and that works as recourse for biotechnological applications (de Vicente and Andersson 2006). Worldwide-known DNA banks are: the Royal Botanic Gardens at Kew, UK; the Australian Plant DNA Bank; and the DNA bank at the National Institute of Agrobiological Sciences (NIAS) in Japan.
Driving with retinitis pigmentosa
Published in Ophthalmic Genetics, 2023
Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. DeRoach, Miguel S. Kabilio, Fred K. chen
DNA was collected through the Australian Inherited Retinal Disease Registry and DNA Bank (11). Genomic DNA was analysed using genotyping microarrays, whole-gene sequencing, or disease-specific next-generation sequencing (NGS) panels as appropriate (12). Candidate mutations were confirmed in parents and other affected siblings by Sanger sequencing (Casey Eye Institute Molecular Diagnostics Laboratory, Portland, OR, USA, or Molecular Vision Laboratory, Hillsboro, OR, USA). Variant nomenclature was reported in accordance with the recommendations of the Human Genome Variation Society (12). Pathogenicity was assessed as described previously (13) and interpreted according to the joint guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) and associated literature (14–16).
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
Published in Ophthalmic Genetics, 2021
Danial Roshandel, Jennifer A. Thompson, Jason Charng, Dan Zhang, Enid Chelva, Sukanya Arunachalam, Mary S. Attia, Tina M. Lamey, Terri L. McLaren, John N. De Roach, David A. Mackey, Steve D. Wilton, Sue Fletcher, Samuel McLenachan, Fred K. Chen
All individuals in this study were participants in the Australian Inherited Retinal Disease Registry & DNA Bank (AIRDR), a national Registry for IRD research approved by Sir Charles Gairdner Hospital Human Research Ethics Committee (Human Ethics Approval Number 2001–053). These individuals were also monitored for disease progression rate prospectively as participants in the Western Australian Retinal Degeneration (WARD) cohort study, approved by the Human Ethics Committee of the Office of Research Enterprise, The University of Western Australia (RA/4/1/7916). Informed consent was obtained from each participant and these studies were conducted in accordance with the tenets of the Declaration of Helsinki.
Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria
Published in Amyloid, 2021
Zornitsa Pavlova, Stayko Sarafov, Tihomir Todorov, Andrey Kirov, Teodora Chamova, Mariana Gospodinova, Ivailo Tournev, Vanyo Mitev, Albena Todorova
ATTRv amyloidosis patients who are carriers of the target variants and their non-carrier healthy relatives were recruited for analysis in the Clinic of Nervous Diseases, UMBAL Aleksandrovska, Sofia, Bulgaria. Forty healthy unrelated control samples from the whole country territory were additionally included. The control samples were chosen from our DNA bank to cover the whole country territory in order to obtain the frequencies of the DNA marker alleles for the general Bulgarian population. The controls are considered ‘healthy’ as the individuals have not reported a family history of a genetic disease, including ATTRv amyloidosis and were not additionally tested for TTR pathogenic variants.