HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.

Abstract:

:Linkage analysis of 72 pedigrees by the maximum-likelihood method provides evidence of linkage between HLA and the hypothesized multiple sclerosis susceptibility gene (MSSG) for both the dominant and recessive models of inheritance and for penetrance values ranging from 5%--65% (or higher). This MSSG, if it exists, is most likely located at 15%--20% recombination units from the HLA complex, probably on the B-D side. The analysis also shows that there is no heterogeneity in the estimates of linkage, and lod scores are not artifically inflated because of the association of multiple sclerosis (MS) with HLA-B7.

journal_name

Am J Hum Genet

authors

Tiwari JL,Hodge SE,Terasaki PI,Spence MA

subject

Has Abstract

pub_date

1980-01-01 00:00:00

pages

103-11

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

32

pub_type

杂志文章
  • Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.

    abstract::The chitinase 3-like 1 gene (CHI3L1) is abnormally expressed in the hippocampus of subjects with schizophrenia and may be involved in the cellular response to various environmental events that are reported to increase the risk of schizophrenia. Here, we provide evidence that the functional variants at the CHI3L1 locus...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/510438

    authors: Zhao X,Tang R,Gao B,Shi Y,Zhou J,Guo S,Zhang J,Wang Y,Tang W,Meng J,Li S,Wang H,Ma G,Lin C,Xiao Y,Feng G,Lin Z,Zhu S,Xing Y,Sang H,St Clair D,He L

    更新日期:2007-01-01 00:00:00

  • Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia.

    abstract::Historical and genetic evidences suggest that the recently founded population of Antioquia (Colombia) is potentially useful for the genetic mapping of complex traits. This population was established in the 16th-17th centuries through the admixture of Amerinds, Europeans, and Africans and grew in relative isolation unt...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/S0002-9297(07)62956-5

    authors: Carvajal-Carmona LG,Soto ID,Pineda N,Ortíz-Barrientos D,Duque C,Ospina-Duque J,McCarthy M,Montoya P,Alvarez VM,Bedoya G,Ruiz-Linares A

    更新日期:2000-11-01 00:00:00

  • The transmission of schizophrenia under a multifactorial threshold model.

    abstract::Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used rec...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: McGue M,Gottesman II,Rao DC

    更新日期:1983-11-01 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

  • PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

    abstract::Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/508572

    authors: Khateeb S,Flusser H,Ofir R,Shelef I,Narkis G,Vardi G,Shorer Z,Levy R,Galil A,Elbedour K,Birk OS

    更新日期:2006-11-01 00:00:00

  • Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

    abstract::Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growth factor 20 (FGF20) at 8p21.3-22 was identified as a risk factor in several association studies. To identify the risk-conferr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2007.09.021

    authors: Wang G,van der Walt JM,Mayhew G,Li YJ,Züchner S,Scott WK,Martin ER,Vance JM

    更新日期:2008-02-01 00:00:00

  • Genome-wide insights into the patterns and determinants of fine-scale population structure in humans.

    abstract::Studying genomic patterns of human population structure provides important insights into human evolutionary history and the relationship among populations, and it has significant practical implications for disease-gene mapping. Here we describe a principal component (PC)-based approach to studying intracontinental pop...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2009.04.015

    authors: Biswas S,Scheinfeldt LB,Akey JM

    更新日期:2009-05-01 00:00:00

  • Serum protein polymorphisms in four populations of Afghanistan.

    abstract::Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Rahimi AG,Goedde HW,Flatz G,Kaifie S,Benkmann HG,Delbrück H

    更新日期:1977-07-01 00:00:00

  • A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.

    abstract::Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DN...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.07.014

    authors: Kherraf ZE,Amiri-Yekta A,Dacheux D,Karaouzène T,Coutton C,Christou-Kent M,Martinez G,Landrein N,Le Tanno P,Fourati Ben Mustapha S,Halouani L,Marrakchi O,Makni M,Latrous H,Kharouf M,Pernet-Gallay K,Gourabi H,Robinson DR

    更新日期:2018-09-06 00:00:00

  • Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region.

    abstract::Although psoriasis is strongly associated with certain human leukocyte antigens (HLAs), evidence for linkage to HLA markers has been limited. The objectives of this study were (1) to provide more definitive evidence for linkage of psoriasis to HLA markers in multiplex families; (2) to compare the major HLA risk allele...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301899

    authors: Jenisch S,Henseler T,Nair RP,Guo SW,Westphal E,Stuart P,Krönke M,Voorhees JJ,Christophers E,Elder JT

    更新日期:1998-07-01 00:00:00

  • Multiplexed Functional Assessment of Genetic Variants in CARD11.

    abstract::Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.10.015

    authors: Meitlis I,Allenspach EJ,Bauman BM,Phan IQ,Dabbah G,Schmitt EG,Camp ND,Torgerson TR,Nickerson DA,Bamshad MJ,Hagin D,Luthers CR,Stinson JR,Gray J,Lundgren I,Church JA,Butte MJ,Jordan MB,Aceves SS,Schwartz DM,Milner

    更新日期:2020-12-03 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

  • Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.

    abstract::Seventy-seven Ethiopians were investigated for mtDNA and Y chromosome-specific variations, in order to (1) define the different maternal and paternal components of the Ethiopian gene pool, (2) infer the origins of these maternal and paternal lineages and estimate their relative contributions, and (3) obtain informatio...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301702

    authors: Passarino G,Semino O,Quintana-Murci L,Excoffier L,Hammer M,Santachiara-Benerecetti AS

    更新日期:1998-02-01 00:00:00

  • A primary genetic map of chromosome 13q.

    abstract::We have constructed a primary genetic map spanning most of human chromosome 13. A total of 14 polymorphic DNA sequences and one protein polymorphism provided, after construction of haplotypes, seven markers for the long arm of this chromosome. A panel of cell lines from 30 three-generation families with large sibship ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Leppert M,Cavenee W,Callahan P,Holm T,O'Connell P,Thompson K,Lathrop GM,Lalouel JM,White R

    更新日期:1986-10-01 00:00:00

  • Test for interaction between two unlinked loci.

    abstract::Despite the growing consensus on the importance of testing gene-gene interactions in genetic studies of complex diseases, the effect of gene-gene interactions has often been defined as a deviance from genetic additive effects, which is essentially treated as a residual term in genetic analysis and leads to low power i...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/508571

    authors: Zhao J,Jin L,Xiong M

    更新日期:2006-11-01 00:00:00

  • Genotyping Array Design and Data Quality Control in the Million Veteran Program.

    abstract::The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.03.004

    authors: Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

    更新日期:2020-04-02 00:00:00

  • Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis.

    abstract::Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

    更新日期:1988-06-01 00:00:00

  • Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

    abstract::Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we descr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.12.012

    authors: Howard MF,Murakami Y,Pagnamenta AT,Daumer-Haas C,Fischer B,Hecht J,Keays DA,Knight SJ,Kölsch U,Krüger U,Leiz S,Maeda Y,Mitchell D,Mundlos S,Phillips JA 3rd,Robinson PN,Kini U,Taylor JC,Horn D,Kinoshita T,Krawitz P

    更新日期:2014-02-06 00:00:00

  • Parental origin of the extra chromosome in trisomy 18.

    abstract::The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be o...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kupke KG,Müller U

    更新日期:1989-10-01 00:00:00

  • Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.

    abstract::Alcoholism is a complex disease with both genetic and environmental risk factors. To identify genes that affect the risk for alcoholism, we systematically ascertained and carefully assessed individuals in families with multiple alcoholics. Linkage and association analyses suggested that a region of chromosome 4p conta...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/383283

    authors: Edenberg HJ,Dick DM,Xuei X,Tian H,Almasy L,Bauer LO,Crowe RR,Goate A,Hesselbrock V,Jones K,Kwon J,Li TK,Nurnberger JI Jr,O'Connor SJ,Reich T,Rice J,Schuckit MA,Porjesz B,Foroud T,Begleiter H

    更新日期:2004-04-01 00:00:00

  • Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.

    abstract::A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and n...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Witkop CJ Jr,White JG,King RA,Dahl MV,Young WG,Sauk JJ Jr

    更新日期:1979-07-01 00:00:00

  • Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

    abstract::The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Sobel E,Lange K

    更新日期:1996-06-01 00:00:00

  • 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...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

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

    更新日期:1991-10-01 00:00:00

  • Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

    abstract::The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with tho...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Cancel G,Abbas N,Stevanin G,Dürr A,Chneiweiss H,Néri C,Duyckaerts C,Penet C,Cann HM,Agid Y

    更新日期:1995-10-01 00:00:00

  • Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25.

    abstract::The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilib...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Sutherland GR

    更新日期:1982-09-01 00:00:00

  • DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

    abstract::The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in A...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301782

    authors: Zhang YH,Guo W,Wagner RL,Huang BL,McCabe L,Vilain E,Burris TP,Anyane-Yeboa K,Burghes AH,Chitayat D,Chudley AE,Genel M,Gertner JM,Klingensmith GJ,Levine SN,Nakamoto J,New MI,Pagon RA,Pappas JG,Quigley CA,Rosenthal

    更新日期:1998-04-01 00:00:00

  • Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

    abstract::A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Spence MA,Sparkes RS,Heckenlively JR,Pearlman JT,Zedalis D,Sparkes M,Crist M,Tideman S

    更新日期:1977-07-01 00:00:00

  • Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

    abstract::Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping an...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.02.012

    authors: Schossig A,Wolf NI,Fischer C,Fischer M,Stocker G,Pabinger S,Dander A,Steiner B,Tönz O,Kotzot D,Haberlandt E,Amberger A,Burwinkel B,Wimmer K,Fauth C,Grond-Ginsbach C,Koch MJ,Deichmann A,von Kalle C,Bartram CR,Kohls

    更新日期:2012-04-06 00:00:00

  • A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

    abstract::Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Klein C,Schilling K,Saunders-Pullman RJ,Garrels J,Breakefield XO,Brin MF,deLeon D,Doheny D,Fahn S,Fink JS,Forsgren L,Friedman J,Frucht S,Harris J,Holmgren G,Kis B,Kurlan R,Kyllerman M,Lang AE,Leung J,Raymond D,R

    更新日期:2000-11-01 00:00:00

  • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

    abstract::Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent ma...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kramer PL,Heiman GA,Gasser T,Ozelius LJ,de Leon D,Brin MF,Burke RE,Hewett J,Hunt AL,Moskowitz C

    更新日期:1994-09-01 00:00:00