当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

Abstract：

:A black family with two male infants affected with the X-linked Lowe syndrome was studied. All three females in the pedigree were found to be carriers on the basis of lenticular opacities. Each female had one son. Of these, two were affected and one was unaffected. The Xg blood-group locus and the G6PD locus were determined in these six individuals. Two of the carrier females were heterozygous for G6PD isoenzymes A- and B. Skewing of the A-:B ratio in isolated erythrocytes, lymphocytes, granulocytes, platelets, and cultured skin fibroblasts from these females may be the result of either selection against cells expressing the Lowe gene product or random X-chromosome inactivation. At least one instance of recombination was found between the G6PD and the Lowe syndrome loci. At least two instances of recombination between Xg blood-group and Lowe syndrome loci.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Hittner HM,Carroll AJ,Prchal JT

subject

Has Abstract

pub_date

1982-11-01 00:00:00

pages

966-71

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

34

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.01.013

    authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

    更新日期：2017-02-02 00:00:00

  • Genetic variability of HLA in the Dariusleut Hutterites. A comparative genetic analysis of the Hutterities, the Amish, and other selected Caucasian populations.

    abstract：:There are three endogamous subdivisions of the Hutterite population, a North American religious isolate. These individuals live on communal farms, and residence is strictly patrilocal. We report on the distributions of HLA-A and B alleles and haplotypes in 203 married women from one subdivision--the Dariusleut--in Alb...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Morgan K,Holmes TM,Schlaut J,Marchuk L,Kovithavongs T,Pazderka F,Dossetor JB

    更新日期：1980-03-01 00:00:00

  • CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

    abstract：:We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.11.013

    authors： Slavotinek A,Kaylor J,Pierce H,Cahr M,DeWard SJ,Schneidman-Duhovny D,Alsadah A,Salem F,Schmajuk G,Mehta L

    更新日期：2015-01-08 00:00:00

  • Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

    abstract：:Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a greater understandin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.020

    authors： Kirwan M,Walne AJ,Plagnol V,Velangi M,Ho A,Hossain U,Vulliamy T,Dokal I

    更新日期：2012-05-04 00:00:00

  • Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

    abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301632

    authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

    更新日期：1997-12-01 00:00:00

  • Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

    abstract：:This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381505

    authors： Elson JL,Turnbull DM,Howell N

    更新日期：2004-02-01 00:00:00

  • Multicentric origin of hemochromatosis gene (HFE) mutations.

    abstract：:Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302318

    authors： Rochette J,Pointon JJ,Fisher CA,Perera G,Arambepola M,Arichchi DS,De Silva S,Vandwalle JL,Monti JP,Old JM,Merryweather-Clarke AT,Weatherall DJ,Robson KJ

    更新日期：1999-04-01 00:00:00

  • Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

    abstract：:Nondisjunction in trisomy 21 has traditionally been studied by cytogenetic heteromorphisms. Those studies assumed no crossing-over on the short arm of chromosome 21. Recently, increased accuracy of detection of the origin of nondisjunction has been demonstrated by DNA polymorphism analysis. We describe a comparative s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Peterson MB,Frantzen M,Antonarakis SE,Warren AC,Van Broeckhoven C,Chakravarti A,Cox TK,Lund C,Olsen B,Poulsen H

    更新日期：1992-09-01 00:00:00

  • Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    abstract：:Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for mul...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.05.005

    authors： Kim HG,Kim HT,Leach NT,Lan F,Ullmann R,Silahtaroglu A,Kurth I,Nowka A,Seong IS,Shen Y,Talkowski ME,Ruderfer D,Lee JH,Glotzbach C,Ha K,Kjaergaard S,Levin AV,Romeike BF,Kleefstra T,Bartsch O,Elsea SH,Jabs EW,Mac

    更新日期：2012-07-13 00:00:00

  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    abstract：:A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

    更新日期：1992-01-01 00:00:00

  • Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

    abstract：:Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.003

    authors： Michot C,Le Goff C,Goldenberg A,Abhyankar A,Klein C,Kinning E,Guerrot AM,Flahaut P,Duncombe A,Baujat G,Lyonnet S,Thalassinos C,Nitschke P,Casanova JL,Le Merrer M,Munnich A,Cormier-Daire V

    更新日期：2012-04-06 00:00:00

  • Congenital universal muscular hypoplasia: evidence for autosomal recessive inheritance.

    abstract：:Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Pelias MZ,Thurmon TF

    更新日期：1979-09-01 00:00:00

  • Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    abstract：:Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.001

    authors： Zhang F,Seeman P,Liu P,Weterman MA,Gonzaga-Jauregui C,Towne CF,Batish SD,De Vriendt E,De Jonghe P,Rautenstrauss B,Krause KH,Khajavi M,Posadka J,Vandenberghe A,Palau F,Van Maldergem L,Baas F,Timmerman V,Lupski JR

    更新日期：2010-06-11 00:00:00

  • Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

    abstract：:To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultaneously screen for n...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dianzani I,Forrest SM,Camaschella C,Saglio G,Ponzone A,Cotton RG

    更新日期：1991-03-01 00:00:00

  • A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

    abstract：:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stevanin G,Le Guern E,Ravisé N,Chneiweiss H,Dürr A,Cancel G,Vignal A,Boch AL,Ruberg M,Penet C

    更新日期：1994-01-01 00:00:00

  • Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

    abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.010

    authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

    更新日期：2018-04-05 00:00:00

  • Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

    abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rich SS,Weitkamp LR,Barbosa J

    更新日期：1984-09-01 00:00:00

  • The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

    abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/504440

    authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

    更新日期：2006-06-01 00:00:00

  • Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

    abstract：:Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：

    authors： Scherer SW,Poorkaj P,Allen T,Kim J,Geshuri D,Nunes M,Soder S,Stephens K,Pagon RA,Patton MA

    更新日期：1994-07-01 00:00:00

  • Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

    abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

    更新日期：1995-01-01 00:00:00

  • Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.

    abstract：:Although there is considerable evidence for a strong genetic component to idiopathic autism, several genomewide screens for susceptibility genes have been performed with limited concordance of linked loci, reflecting either numerous genes of weak effect and/or sample heterogeneity. Because decreasing sample heterogene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320588

    authors： Buxbaum JD,Silverman JM,Smith CJ,Kilifarski M,Reichert J,Hollander E,Lawlor BA,Fitzgerald M,Greenberg DA,Davis KL

    更新日期：2001-06-01 00:00:00

  • Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

    abstract：:Stickler syndrome is a dominantly inherited disorder characterized by arthropathy, midline clefting, hearing loss, midfacial hypoplasia, myopia, and retinal detachment. These features are highly variable both between and within families. Mutations causing the disorder have been found in the COL2A1 and COL11A1 genes. P...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/S0002-9297(07)62938-3

    authors： Richards AJ,Baguley DM,Yates JR,Lane C,Nicol M,Harper PS,Scott JD,Snead MP

    更新日期：2000-11-01 00:00:00

  • Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.

    abstract：:Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Board PG,Chapple R,Coggan M

    更新日期：1988-05-01 00:00:00

  • The ancestry of Brazilian mtDNA lineages.

    abstract：:We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/303004

    authors： Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

    更新日期：2000-08-01 00:00:00

  • Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

    abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.05.005

    authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

    更新日期：2014-06-05 00:00:00

  • Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.

    abstract：:Animal microRNAs (miRNAs) regulate gene expression through base pairing to their targets within the 3' untranslated region (UTR) of protein-coding genes. Single-nucleotide polymorphisms (SNPs) located within such target sites can affect miRNA regulation. We mapped annotated SNPs onto a collection of experimentally sup...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519979

    authors： Sethupathy P,Borel C,Gagnebin M,Grant GR,Deutsch S,Elton TS,Hatzigeorgiou AG,Antonarakis SE

    更新日期：2007-08-01 00:00:00

  • Juvenile hemochromatosis locus maps to chromosome 1q.

    abstract：:Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we per...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302379

    authors： Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella C

    更新日期：1999-05-01 00:00:00

  • Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

    abstract：:We have previously shown that intracellular trafficking and extracellular assembly of tropoelastin into elastic fibers is facilitated by the 67-kD elastin-binding protein identical to an enzymatically inactive, alternatively spliced variant of beta-galactosidase (S-Gal). In the present study, we investigated elastic-f...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302968

    authors： Hinek A,Zhang S,Smith AC,Callahan JW

    更新日期：2000-07-01 00:00:00

  • Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups.

    abstract：:In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study subjects is used in the actual analysis of the trait, and much of the phenotypic data is ignored. With proper consent, these...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/321286

    authors： Perola M,Ohman M,Hiekkalinna T,Leppävuori J,Pajukanta P,Wessman M,Koskenvuo M,Palotie A,Lange K,Kaprio J,Peltonen L

    更新日期：2001-07-01 00:00:00

  • Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28.

    abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bell MV,Bloomfield J,McKinley M,Patterson MN,Darlison MG,Barnard EA,Davies KE

    更新日期：1989-12-01 00:00:00