Abstract:
:DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surrounding the choice of biological samples for methods of DNA extraction as well as the storage and transport of biological and DNA samples for genetic studies.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Dickinson JL,Sale MM,Craig JE,Mackey DAdoi
10.1076/opge.22.1.49.2240subject
Has Abstractpub_date
2001-03-01 00:00:00pages
49-60issue
1eissn
1381-6810issn
1744-5094journal_volume
22pub_type
杂志文章,评审abstract:BACKGROUND:Optic disc pit is a very rare clinical entity. The main complication of this condition is the maculopathy. Report of cases: A 40-year-old Caucasian man and his 6-year-old daughter underwent a complete ophthalmological examination. In both cases ophthalmoscopy examination showed a bilateral white-yellow oval ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1188120
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00
abstract:PURPOSE:In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP. MATERIALS AND METHODS:We included 146 unrelated Japanese patients with AR ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1136336
更新日期:2017-01-01 00:00:00
abstract::Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666414
更新日期:2019-08-01 00:00:00
abstract:PURPOSE:The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1080/13816810.2016.1237664
更新日期:2017-07-01 00:00:00
abstract::The visual cycle is essential for vision and several genes encoding proteins of the cycle have been found mutated in various forms of inherited retinal dystrophy. We screened 3 genes of the visual cycle. RGR, encoding the retinal pigment epithelium (RPE) G protein-coupled receptor acting in vitro as a photoisomerase; ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.512354
更新日期:2010-12-01 00:00:00
abstract::A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802697473
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND:Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and m...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.746377
更新日期:2013-09-01 00:00:00
abstract::When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666415
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negati...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1778736
更新日期:2020-08-01 00:00:00
abstract:PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using marke...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.22.4.241.2216
更新日期:2001-12-01 00:00:00
abstract:BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1786843
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities. METHODS:Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing. Selected pati...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.544365
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod d...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1547912
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1. MATERIALS AND METHODS:Single retrospective case report. RESULTS:A full-term infant presented...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1768556
更新日期:2020-08-01 00:00:00
abstract::The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409098865
更新日期:1994-06-01 00:00:00
abstract::Background: The extensive phenotypic heterogeneity of monogenic diseases can be largely traced to intragenic variation; however, recent advances in clinical detection and gene sequencing have uncovered the emerging role of non-allelic variation (i.e. genetic trans-modifiers) in shaping disease phenotypes. Identifying ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1660382
更新日期:2019-08-01 00:00:00
abstract::Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.596891
更新日期:2011-08-04 00:00:00
abstract:BACKGROUND:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1755989
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabet...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a geneti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.523038
更新日期:2010-12-01 00:00:00
abstract::Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666880
更新日期:2019-10-01 00:00:00
abstract:PURPOSE:To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. METHODS:A complete ophthalmic eva...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819709041434
更新日期:1997-12-01 00:00:00
abstract::Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.23.2.121.2211
更新日期:2002-06-01 00:00:00
abstract:BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and mi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1436184
更新日期:2018-06-01 00:00:00
abstract::Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests....
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2011.565397
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS:Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The preva...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2017.1301964
更新日期:2017-12-01 00:00:00
abstract:PURPOSE:To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS:Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven pat...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
abstract:PURPOSE:Retinoblastoma (Rb) tumor recurrence in the papillary or macular region is a threat to life and visual prognosis respectively, making early detection indispensable. This study demonstrates the value of optical coherence tomography (OCT) in the early detection of subclinical tumor recurrence. METHODS:Since June...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1436183
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS:A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct seque...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1484927
更新日期:2018-08-01 00:00:00