Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

Abstract:

:Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in night blindness, visual field loss, an abnormal electroretinogram, and characteristic retinal pigmentary changes. An important step in the understanding of RP has been the recognition that some cases of autosomal dominant RP (ADRP) are caused by mutations in the rhodopsin gene. Multiple different point mutations within the coding sequence of the rhodopsin gene have been associated with ADRP. We have developed a GC-clamped denaturing-gradient-gel electrophoresis (DGGE) assay for the coding region of the rhodopsin gene and have used this assay to screen ADRP patients for mutations. The assay consists of amplifying with PCR the five exons of the rhodopsin gene and then analyzing each PCR product by DGGE. We have used this assay to detect three previously unreported rhodopsin base substitutions associated with ADRP. The use of this assay to identify ADRP patients who have various rhodopsin mutations has allowed us to begin studies seeking to correlate molecular genotype with clinical phenotype. Furthermore, GC-clamped DGGE has allowed us to identify families with ADRP not caused by a rhodopsin mutation. Such families will be important in the search for other genes involved in ADRP.

journal_name

Am J Hum Genet

authors

Sheffield VC,Fishman GA,Beck JS,Kimura AE,Stone EM

subject

Has Abstract

pub_date

1991-10-01 00:00:00

pages

699-706

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

49

pub_type

杂志文章
  • Robustness and power of the maximum-likelihood-binomial and maximum-likelihood-score methods, in multipoint linkage analysis of affected-sibship data.

    abstract::The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301958

    authors: Abel L,Müller-Myhsok B

    更新日期:1998-08-01 00:00:00

  • Innovations in human genetics education. Medical student elective in clinical genetics.

    abstract::The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Bodurtha J,Spence JE,Stevens CA

    更新日期:1991-08-01 00:00:00

  • Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.

    abstract::Dyskeratosis congenita (DC) is an inherited disorder characterized by reticular pigmentation of the skin, dystrophic nails, mucosal leukoplakia, and a predisposition to cancer in early adult life. In the majority of cases, DC is an X-linked recessive trait. However, one or more autosomal form(s) of DC may exist. Altho...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: DeBauche DM,Pai GS,Stanley WS

    更新日期:1990-02-01 00:00:00

  • Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

    abstract::Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/375039

    authors: Antonellis A,Ellsworth RE,Sambuughin N,Puls I,Abel A,Lee-Lin SQ,Jordanova A,Kremensky I,Christodoulou K,Middleton LT,Sivakumar K,Ionasescu V,Funalot B,Vance JM,Goldfarb LG,Fischbeck KH,Green ED

    更新日期:2003-05-01 00:00:00

  • The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.

    abstract::Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2016.12.001

    authors: He Z,Zhang D,Renton AE,Li B,Zhao L,Wang GT,Goate AM,Mayeux R,Leal SM

    更新日期:2017-02-02 00:00:00

  • The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.

    abstract::Two new morphs (F and G) detected by the centromeric alpha satellite probe p alpha 10RP8 and D10Z1 in HinfI digests are linked to the PstI polymorphisms of D10Z1, confirming their chromosome 10 location. The F and G morphs were in strong linkage disequilibrium with each other but were in weak linkage disequilibrium wi...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Carson NL,Wu JS,Jackson CE,Kidd KK,Simpson NE

    更新日期:1990-12-01 00:00:00

  • Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

    abstract::Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Scott HS,Litjens T,Nelson PV,Thompson PR,Brooks DA,Hopwood JJ,Morris CP

    更新日期:1993-11-01 00:00:00

  • Inferring genetic ancestry: opportunities, challenges, and implications.

    abstract::Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2010.03.011

    authors: Royal CD,Novembre J,Fullerton SM,Goldstein DB,Long JC,Bamshad MJ,Clark AG

    更新日期:2010-05-14 00:00:00

  • Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.

    abstract::Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/497438

    authors: Fang Y,van Meurs JB,d'Alesio A,Jhamai M,Zhao H,Rivadeneira F,Hofman A,van Leeuwen JP,Jehan F,Pols HA,Uitterlinden AG

    更新日期:2005-11-01 00:00:00

  • Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS.

    abstract::Genetic mapping of complex diseases to date depends on variations inside or close to the genes that perturb their activities. A strong body of evidence suggests that changes in gene expression play a key role in complex diseases and that numerous loci perturb gene expression in trans. The information in trans variants...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.03.022

    authors: He X,Fuller CK,Song Y,Meng Q,Zhang B,Yang X,Li H

    更新日期:2013-05-02 00:00:00

  • Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

    abstract::Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8-10 per 1,000 live births). Although their etiology is often poorly understood, most are considered to arise from multifactorial influences, including environmental and genetic components, as well as from less common syndromi...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/522890

    authors: Karkera JD,Lee JS,Roessler E,Banerjee-Basu S,Ouspenskaia MV,Mez J,Goldmuntz E,Bowers P,Towbin J,Belmont JW,Baxevanis AD,Schier AF,Muenke M

    更新日期:2007-11-01 00:00:00

  • A review of limb defects in a large fetus collection.

    abstract::Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Stephens TD,Shepard TH

    更新日期:1983-05-01 00:00:00

  • HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls.

    abstract::The association between HLA-DR and -DQ and insulin-dependent diabetes mellitus (IDDM) in a defined high-incidence area was analyzed in a total of 58 population-based patients, representing 77% of IDDM patients with age at onset below 16 years, and in 92 unrelated parents in control families without IDDM. HLA haplotype...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kockum I,Wassmuth R,Holmberg E,Michelsen B,Lernmark A

    更新日期:1993-07-01 00:00:00

  • A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

    abstract::A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Terrett JA,Newbury-Ecob R,Smith NM,Li QY,Garrett C,Cox P,Bonnet D,Lyonnet S,Munnich A,Buckler AJ,Brook JD

    更新日期:1996-12-01 00:00:00

  • Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

    abstract::Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301872

    authors: Vargas-Poussou R,Feldmann D,Vollmer M,Konrad M,Kelly L,van den Heuvel LP,Tebourbi L,Brandis M,Karolyi L,Hebert SC,Lemmink HH,Deschênes G,Hildebrandt F,Seyberth HW,Guay-Woodford LM,Knoers NV,Antignac C

    更新日期:1998-06-01 00:00:00

  • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

    abstract::Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C-->T transition in exon 7 that causes substantial skipping of this exon, such that SMN2 expresses only low levels of functional protein. A better u...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/498853

    authors: Cartegni L,Hastings ML,Calarco JA,de Stanchina E,Krainer AR

    更新日期:2006-01-01 00:00:00

  • The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease.

    abstract::The chromosome 19 apolipoprotein E/CI/CII gene cluster was examined for evidence of linkage to a familial Alzheimer disease (FAD) locus. The family groups studied were Volga German (VG), early-onset non-VG (ENVG; mean age at onset < 60 years), and late-onset families. A genetic association was observed between apolipo...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Yu CE,Payami H,Olson JM,Boehnke M,Wijsman EM,Orr HT,Kukull WA,Goddard KA,Nemens E,White JA

    更新日期:1994-04-01 00:00:00

  • A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease.

    abstract::Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs-that is, suicide, suicide attempt, a...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1086/302374

    authors: Almqvist EW,Bloch M,Brinkman R,Craufurd D,Hayden MR

    更新日期:1999-05-01 00:00:00

  • An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

    abstract::The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/375144

    authors: Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

    更新日期:2003-05-01 00:00:00

  • Characterization of beta-D-galactosidase isolated from I-cell disease liver.

    abstract::The residual beta-D-galactosidase activity (10% of normal) present in an autopsy sample of liver derived from an I-cell patient has been characterized. The pH optima for both I-cell and normal acid 4-methylumbelliferyl beta-D-galactoside activities were 4.35. The adsorption and elution profiles of the I-cell enzyme fr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Holmes EW,Miller AL,Frost RG,O'Brien JS

    更新日期:1975-11-01 00:00:00

  • Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV.

    abstract::Increased concentrations of total sulfated mucopolysaccharides (MPS), threefold, and hyaluronic acid (HA), 10-fold, were found in ML IV fibroblast extracts when compared to normal controls. Such accumulations altered the distribution of MPS:HA comprised 70% of total MPS in ML IV but only 30% in control cells. Intracel...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Bach G,Ziegler M,Kohn G,Cohen MM

    更新日期:1977-11-01 00:00:00

  • The 47,XYY male, Y chromosome, and tooth size.

    abstract::Permanent teeth of 12 individuals with a 47,XYY chromosome constitution have been examined. The tooth sizes of 47,XYY males were found to be larger than those of control males and females. In many instances the differences were statistically significant. Using these results, it was possible to conclude that a factor ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Alvesalo L,Osborne RH,Kari M

    更新日期:1975-01-01 00:00:00

  • A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

    abstract::Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "Madelung deformity." SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients wi...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/449313

    authors: Benito-Sanz S,Thomas NS,Huber C,Gorbenko del Blanco D,Aza-Carmona M,Crolla JA,Maloney V,Rappold G,Argente J,Campos-Barros A,Cormier-Daire V,Heath KE

    更新日期:2005-10-01 00:00:00

  • Genes for Good: Engaging the Public in Genetics Research via Social Media.

    abstract::The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2019.05.006

    authors: Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

    更新日期:2019-07-03 00:00:00

  • Huntington disease in Georgia: age at onset.

    abstract::Age at onset of motor symptoms was collected on 611 persons affected with Huntington disease (HD) among 3,201 persons "at risk" in 108 kindreds. Life-table estimates correcting for truncated intervals of observation (censoring) produced a median age at onset 5 years older than the observed mean. Risk estimates of HD o...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Adams P,Falek A,Arnold J

    更新日期:1988-11-01 00:00:00

  • Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

    abstract::Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.03.007

    authors: Schorderet DF,Nichini O,Boisset G,Polok B,Tiab L,Mayeur H,Raji B,de la Houssaye G,Abitbol MM,Munier FL

    更新日期:2008-05-01 00:00:00

  • A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

    abstract::Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mut...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,收录出版

    doi:10.1016/j.ajhg.2011.05.009

    authors: Cullinane AR,Curry JA,Carmona-Rivera C,Summers CG,Ciccone C,Cardillo ND,Dorward H,Hess RA,White JG,Adams D,Huizing M,Gahl WA

    更新日期:2011-06-10 00:00:00

  • The phylogeography of Brazilian Y-chromosome lineages.

    abstract::We examined DNA polymorphisms in the nonrecombining portion of the Y-chromosome to investigate the contribution of distinct patrilineages to the present-day white Brazilian population. Twelve unique-event polymorphisms were typed in 200 unrelated males from four geographical regions of Brazil and in 93 Portuguese male...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/316931

    authors: Carvalho-Silva DR,Santos FR,Rocha J,Pena SD

    更新日期:2001-01-01 00:00:00

  • Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

    abstract::Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Shih VE,Mandell R,Berson EL

    更新日期:1988-12-01 00:00:00

  • Genome-wide association study identifies candidate genes for male fertility traits in humans.

    abstract::Despite the fact that hundreds of genes are known to affect fertility in animal models, relatively little is known about genes that influence natural fertility in humans. To broadly survey genes contributing to variation in male fertility, we conducted a genome-wide association study (GWAS) of two fertility traits (fa...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.04.016

    authors: Kosova G,Scott NM,Niederberger C,Prins GS,Ober C

    更新日期:2012-06-08 00:00:00