Genetic linkage heterogeneity in myotubular myopathy.

abstract：:Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques f...

journal_title：American journal of human genetics

authors： Sun F,Oliver-Bonet M,Liehr T,Starke H,Ko E,Rademaker A,Navarro J,Benet J,Martin RH

更新日期：2004-03-01 00:00:00

abstract：:A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide sc...

journal_title：American journal of human genetics

authors： Hauser ER,Crossman DC,Granger CB,Haines JL,Jones CJ,Mooser V,McAdam B,Winkelmann BR,Wiseman AH,Muhlestein JB,Bartel AG,Dennis CA,Dowdy E,Estabrooks S,Eggleston K,Francis S,Roche K,Clevenger PW,Huang L,Pedersen B,S

更新日期：2004-09-01 00:00:00

abstract：:Sixteen tyrosinemic patients were evaluated in our institution for a possible liver transplantation. All patients showed biochemical and/or radiological evidence of liver dysfunction. Renal involvement was found to be more abnormal than expected. Seven patients have been transplanted, with two patients receiving a com...

journal_title：American journal of human genetics

authors： Paradis K,Weber A,Seidman EG,Larochelle J,Garel L,Lenaerts C,Roy CC

更新日期：1990-08-01 00:00:00

abstract：:Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...

journal_title：American journal of human genetics

authors： Marchini J,Cutler D,Patterson N,Stephens M,Eskin E,Halperin E,Lin S,Qin ZS,Munro HM,Abecasis GR,Donnelly P,International HapMap Consortium.

更新日期：2006-03-01 00:00:00

abstract：:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozy...

journal_title：American journal of human genetics

authors： Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

更新日期：2006-07-01 00:00:00

abstract：:Genetic association studies of common disease often rely on linkage disequilibrium (LD) along the human genome and in the population under study. Although understanding the characteristics of this correlation has been the focus of many large-scale surveys (culminating in genomewide haplotype maps), the results of diff...

journal_title：American journal of human genetics

authors： Pe'er I,Chretien YR,de Bakker PI,Barrett JC,Daly MJ,Altshuler DM

更新日期：2006-04-01 00:00:00

abstract：:A family-history cancer survey was conducted on 5,486 men who underwent a radical prostatectomy, for clinically localized prostate cancer, in the Department of Urology at the Mayo Clinic during 1966-95; 4,288 men responded to the survey. Complex segregation analysis was performed to assess the genetic basis of age at ...

journal_title：American journal of human genetics

authors： Schaid DJ,McDonnell SK,Blute ML,Thibodeau SN

更新日期：1998-06-01 00:00:00

abstract：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...

journal_title：American journal of human genetics

authors： Arngrímsson R,Hayward C,Nadaud S,Baldursdóttir A,Walker JJ,Liston WA,Bjarnadóttir RI,Brock DJ,Geirsson RT,Connor JM,Soubrier F

更新日期：1997-08-01 00:00:00

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

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

abstract：:X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), w...

journal_title：American journal of human genetics

authors： Kalscheuer VM,Tao J,Donnelly A,Hollway G,Schwinger E,Kübart S,Menzel C,Hoeltzenbein M,Tommerup N,Eyre H,Harbord M,Haan E,Sutherland GR,Ropers HH,Gécz J

更新日期：2003-06-01 00:00:00

abstract：:Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syn...

journal_title：American journal of human genetics

authors： Woodage T,Prasad M,Dixon JW,Selby RE,Romain DR,Columbano-Green LM,Graham D,Rogan PK,Seip JR,Smith A

更新日期：1994-07-01 00:00:00

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

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

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

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

更新日期：1977-07-01 00:00:00

abstract：:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when s...

journal_title：American journal of human genetics

authors： DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

更新日期：1998-11-01 00:00:00

abstract：:About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

journal_title：American journal of human genetics

authors： Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

更新日期：1996-10-01 00:00:00

abstract：:ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive s...

journal_title：American journal of human genetics

authors： Thorstenson YR,Shen P,Tusher VG,Wayne TL,Davis RW,Chu G,Oefner PJ

更新日期：2001-08-01 00:00:00

abstract：:A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...

journal_title：American journal of human genetics

authors： McDowell GA,Mules EH,Fabacher P,Shapira E,Blitzer MG

更新日期：1992-11-01 00:00:00

abstract：:SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes ...

journal_title：American journal of human genetics

authors： Tolchin D,Yeager JP,Prasad P,Dorrani N,Russi AS,Martinez-Agosto JA,Haseeb A,Angelozzi M,Santen GWE,Ruivenkamp C,Mercimek-Andrews S,Depienne C,Kuechler A,Mikat B,Ludecke HJ,Bilan F,Le Guyader G,Gilbert-Dussardier B,Ker

更新日期：2020-06-04 00:00:00

abstract：:Linkage is a phenomenon that correlates the genotypes of loci, rather than the phenotypes of one locus to the genotypes of another. It is therefore necessary to convert the observed trait phenotypes into trait-locus genotypes, which can then be analyzed for coinheritance with marker-locus genotypes. However, if the mo...

journal_title：American journal of human genetics

authors： Göring HH,Terwilliger JD

更新日期：2000-03-01 00:00:00

abstract：:We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with...

journal_title：American journal of human genetics

authors： Sharon D,Sandberg MA,Rabe VW,Stillberger M,Dryja TP,Berson EL

更新日期：2003-11-01 00:00:00

abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

journal_title：American journal of human genetics

authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

更新日期：2000-06-01 00:00:00

abstract：:Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...

journal_title：American journal of human genetics

authors： Freund MK,Burch KS,Shi H,Mancuso N,Kichaev G,Garske KM,Pan DZ,Miao Z,Mohlke KL,Laakso M,Pajukanta P,Pasaniuc B,Arboleda VA

更新日期：2018-10-04 00:00:00

abstract：:In studies of expression quantitative trait loci (eQTLs), it is of increasing interest to identify eGenes, the genes whose expression levels are associated with variation at a particular genetic variant. Detecting eGenes is important for follow-up analyses and prioritization because genes are the main entities in biol...

journal_title：American journal of human genetics

authors： Sul JH,Raj T,de Jong S,de Bakker PI,Raychaudhuri S,Ophoff RA,Stranger BE,Eskin E,Han B

更新日期：2015-06-04 00:00:00

abstract：:The locus for Saethre-Chotzen syndrome, a common autosomal dominant disorder of craniosynostosis and digital anomalies, was previously mapped to chromosome 7p between D7S513 and D7S516. We used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage ...

journal_title：American journal of human genetics

authors： Lewanda AF,Green ED,Weissenbach J,Jerald H,Taylor E,Summar ML,Phillips JA 3rd,Cohen M,Feingold M,Mouradian W

更新日期：1994-12-01 00:00:00

abstract：:The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of cultur...

journal_title：American journal of human genetics

authors： Foster MW,Sharp RR,Freeman WL,Chino M,Bernsten D,Carter TH

更新日期：1999-06-01 00:00:00

abstract：:We report the transmission of HLA haplotypes and Gm allotypes in 97 members of a single kindred containing 257 individuals, 45 of whom were determined by clinical examination, autopsy, or historical data to have had Alzheimer disease (AD). Extensive inbreeding suggests that more than one gene may contribute to suscept...

journal_title：American journal of human genetics

authors： Weitkamp LR,Nee L,Keats B,Polinsky RJ,Guttormsen S

更新日期：1983-05-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

journal_title：American journal of human genetics

authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

更新日期：1988-08-01 00:00:00

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

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

abstract：:Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of pediatric cancer deaths. Despite recent advances in our understanding of this malignancy's complex genetic architecture, the contribution of rare germline va...

journal_title：American journal of human genetics

authors： Egolf LE,Vaksman Z,Lopez G,Rokita JL,Modi A,Basta PV,Hakonarson H,Olshan AF,Diskin SJ

更新日期：2019-09-05 00:00:00

abstract：:Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....

journal_title：American journal of human genetics

authors： Pellestor F,Sèle B,Jalbert H,Jalbert P

更新日期：1989-04-01 00:00:00