当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Abstract：

:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

subject

Has Abstract

pub_date

1991-01-01 00:00:00

pages

26-30

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

48

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

    abstract：:Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that is conducted in a recently isolated population from the southwestern area of The Netherlands. All...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/518720

    authors： Liu F,Arias-Vásquez A,Sleegers K,Aulchenko YS,Kayser M,Sanchez-Juan P,Feng BJ,Bertoli-Avella AM,van Swieten J,Axenovich TI,Heutink P,van Broeckhoven C,Oostra BA,van Duijn CM

    更新日期：2007-07-01 00:00:00

  • A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

    abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301948

    authors： Burrows NP,Nicholls AC,Richards AJ,Luccarini C,Harrison JB,Yates JR,Pope FM

    更新日期：1998-08-01 00:00:00

  • HLA-DR polymorphism in a Senegalese Mandenka population: DNA oligotyping and population genetics of DRB1 specificities.

    abstract：:HLA class II loci are useful markers in human population genetics, because they are extremely variable and because new molecular techniques allow large-scale analysis of DNA allele frequencies. Direct DNA typing by hybridization with sequence-specific oligonucleotide probes (HLA oligotyping) after enzymatic in vitro P...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tiercy JM,Sanchez-Mazas A,Excoffier L,Shi-Isaac X,Jeannet M,Mach B,Langaney A

    更新日期：1992-09-01 00:00:00

  • A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

    abstract：:mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splice site in intron 11. S...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Chillón M,Dörk T,Casals T,Giménez J,Fonknechten N,Will K,Ramos D,Nunes V,Estivill X

    更新日期：1995-03-01 00:00:00

  • Gaucher disease: gene frequencies in the Ashkenazi Jewish population.

    abstract：:DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Beutler E,Nguyen NJ,Henneberger MW,Smolec JM,McPherson RA,West C,Gelbart T

    更新日期：1993-01-01 00:00:00

  • A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus.

    abstract：:Previously, we demonstrated evidence of linkage to bipolar affective disorder (BP) in a single large, multigenerational family with a LOD score of 3.41 at the PFKL locus on chromosome 21q22.3. Additional families showed little support for linkage to PFKL under homogeneity or heterogeneity, in that study. We have expan...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302185

    authors： Aita VM,Liu J,Knowles JA,Terwilliger JD,Baltazar R,Grunn A,Loth JE,Kanyas K,Lerer B,Endicott J,Wang Z,Penchaszadeh G,Gilliam TC,Baron M

    更新日期：1999-01-01 00:00:00

  • The extent of linkage disequilibrium in four populations with distinct demographic histories.

    abstract：:The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/316906

    authors： Dunning AM,Durocher F,Healey CS,Teare MD,McBride SE,Carlomagno F,Xu CF,Dawson E,Rhodes S,Ueda S,Lai E,Luben RN,Van Rensburg EJ,Mannermaa A,Kataja V,Rennart G,Dunham I,Purvis I,Easton D,Ponder BA

    更新日期：2000-12-01 00:00:00

  • Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.

    abstract：:Cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) show an abnormal response to ionizing radiation-induced DNA damage, such as an increased cell killing and a diminished inhibition of DNA synthesis. The enhanced killing of A-T (group D) cells by X-rays can be corrected by ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jongmans W,Verhaegh GW,Jaspers NG,Oshimura M,Stanbridge EJ,Lohman PH,Zdzienicka MZ

    更新日期：1995-02-01 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

  • CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

    abstract：:Idiopathic scoliosis (IS) is the most common spinal deformity in children, and its etiology is unknown. To refine the search for genes underlying IS susceptibility, we ascertained a new cohort of 52 families and conducted a follow-up study of genomewide scans that produced evidence of linkage and association with 8q12...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513571

    authors： Gao X,Gordon D,Zhang D,Browne R,Helms C,Gillum J,Weber S,Devroy S,Swaney S,Dobbs M,Morcuende J,Sheffield V,Lovett M,Bowcock A,Herring J,Wise C

    更新日期：2007-05-01 00:00:00

  • Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

    abstract：:We previously reported the finding of phytosterolemia, xanthomatosis, and hyperapobetalipoproteinemia (hyperapoB) in five siblings in a large Amish pedigree ascertained through a 13-year-old boy who died suddenly from advanced coronary atherosclerosis. Here, we present further analyses of the plasma levels of the plan...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Beaty TH,Kwiterovich PO Jr,Khoury MJ,White S,Bachorik PS,Smith HH,Teng B,Sniderman A

    更新日期：1986-04-01 00:00:00

  • Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

    abstract：:Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Brooks CC,Buist N,Tuerck J,Tolan DR

    更新日期：1991-11-01 00:00:00

  • PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.

    abstract：:Allele and genotype frequencies for the highly polymorphic D1S80 locus were determined in a Finnish population sample by using PCR followed by high-resolution PAGE and silver staining, a procedure called the amplified-fragment-length polymorphism (Amp-FLP) technique. In 140 unrelated Finnish individuals 15 alleles and...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sajantila A,Budowle B,Ström M,Johnsson V,Lukka M,Peltonen L,Ehnholm C

    更新日期：1992-04-01 00:00:00

  • Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

    abstract：:Ehlers-Danlos syndrome (EDS) type IV is a dominantly inherited disorder that results from mutations in the type III collagen gene (COL3A1). We studied the structure of the COL3A1 gene of an individual with EDS type IV and that of her phenotypically normal parents. The proband was heterozygous for a 2-kb deletion in CO...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Milewicz DM,Witz AM,Smith AC,Manchester DK,Waldstein G,Byers PH

    更新日期：1993-07-01 00:00:00

  • NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

    abstract：:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302709

    authors： Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

    更新日期：2000-01-01 00:00:00

  • Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

    abstract：:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

    更新日期：1992-08-01 00:00:00

  • Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

    abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.10.003

    authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

    更新日期：2018-11-01 00:00:00

  • "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.

    abstract：:Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one tandem run of a trinucleotide predominates. A search of human GenBank sequence revealed that the sequences of cRRY(i) are ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Gostout B,Liu Q,Sommer SS

    更新日期：1993-06-01 00:00:00

  • PRB1, PRB2, and PRB4 coded polymorphisms among human salivary concanavalin-A binding, II-1, and Po proline-rich proteins.

    abstract：:Six closely linked PRP (proline-rich protein) genes code for many salivary PRPs that show frequent length and null variants. From determined protein sequences and DNA sequence analysis of variant alleles, we here report the coding and molecular basis for Con (concanavalin A-binding) and Po (parotid "o") protein polymo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Azen EA,Amberger E,Fisher S,Prakobphol A,Niece RL

    更新日期：1996-01-01 00:00:00

  • Allelic skewing of DNA methylation is widespread across the genome.

    abstract：:DNA methylation is assumed to be complementary on both alleles across the genome, although there are exceptions, notably in regions subject to genomic imprinting. We present a genome-wide survey of the degree of allelic skewing of DNA methylation with the aim of identifying previously unreported differentially methyla...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.01.014

    authors： Schalkwyk LC,Meaburn EL,Smith R,Dempster EL,Jeffries AR,Davies MN,Plomin R,Mill J

    更新日期：2010-02-12 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

  • Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

    abstract：:A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rosenfeld RG,Luzzatti L,Hintz RL,Miller OJ,Koo GC,Wachtel SS

    更新日期：1979-07-01 00:00:00

  • Multipoint interval mapping of quantitative trait loci, using sib pairs.

    abstract：:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fulker DW,Cherny SS,Cardon LR

    更新日期：1995-05-01 00:00:00

  • Power studies for the transmission/disequilibrium tests with multiple alleles.

    abstract：:Case-control studies compare marker-allele distributions in affected and unaffected individuals, and significant results suggest linkage but may simply reflect population structure. For markers with m alleles (m > or = 2), a McNemar-like statistic, I, estimates the level of population association between marker and di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kaplan NL,Martin ER,Weir BS

    更新日期：1997-03-01 00:00:00

  • Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

    abstract：:We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnorm...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：

    authors： Thomas IT,Frias JL,Cantu ES,Lafer CZ,Flannery DB,Graham JG Jr

    更新日期：1989-08-01 00:00:00

  • Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China.

    abstract：:To identify Chinese geneticists' views of ethical issues in genetic testing and screening, a national survey was conducted. Of 402 Chinese geneticists asked to participate, 255 (63%) returned by mail anonymous questionnaires. The majority of respondents thought that genetic testing should be offered in the workplace f...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302020

    authors： Mao X

    更新日期：1998-09-01 00:00:00

  • Detecting and characterizing genomic signatures of positive selection in global populations.

    abstract：:Natural selection is a significant force that shapes the architecture of the human genome and introduces diversity across global populations. The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that ther...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.04.021

    authors： Liu X,Ong RT,Pillai EN,Elzein AM,Small KS,Clark TG,Kwiatkowski DP,Teo YY

    更新日期：2013-06-06 00:00:00

  • Evidence for a prostate cancer-susceptibility locus on chromosome 20.

    abstract：:Recent studies suggest that hereditary prostate cancer is a complex disease involving multiple susceptibility genes and variable phenotypic expression. While conducting a genomewide search on 162 North American families with > or =3 members affected with prostate cancer (PRCA), we found evidence for linkage to chromos...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302994

    authors： Berry R,Schroeder JJ,French AJ,McDonnell SK,Peterson BJ,Cunningham JM,Thibodeau SN,Schaid DJ

    更新日期：2000-07-01 00:00:00

  • Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.

    abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

    更新日期：1991-09-01 00:00:00

  • A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.

    abstract：:Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widely between individuals, and a subgroup of the population has very low activity levels. Mounting evidence suggests that the DBH s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/318198

    authors： Zabetian CP,Anderson GM,Buxbaum SG,Elston RC,Ichinose H,Nagatsu T,Kim KS,Kim CH,Malison RT,Gelernter J,Cubells JF

    更新日期：2001-02-01 00:00:00