The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 00:00:00

abstract：:Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in...

journal_title：American journal of human genetics

authors： Pearce SH,Cheetham T,Imrie H,Vaidya B,Barnes ND,Bilous RW,Carr D,Meeran K,Shaw NJ,Smith CS,Toft AD,Williams G,Kendall-Taylor P

更新日期：1998-12-01 00:00:00

abstract：:The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation ...

journal_title：American journal of human genetics

authors： Spurdle A,Ramsay M,Jenkins T

更新日期：1992-06-01 00:00:00

abstract：:The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit st...

journal_title：American journal of human genetics

authors： Slipetz DM,Goodyer PR,Rozen R

更新日期：1991-06-01 00:00:00

abstract：:Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecu...

journal_title：American journal of human genetics

authors： Richter S,Vandezande K,Chen N,Zhang K,Sutherland J,Anderson J,Han L,Panton R,Branco P,Gallie B

更新日期：2003-02-01 00:00:00

abstract：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

journal_title：American journal of human genetics

authors： Martin ER,Monks SA,Warren LL,Kaplan NL

更新日期：2000-07-01 00:00:00

abstract：:Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. How...

journal_title：American journal of human genetics

authors： Zhao H,Li J,Robinson WP

更新日期：2000-10-01 00:00:00

abstract：:RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome sequencing for precisely identifying the molecular causes of rare disorders. A powerful approach is to identify aberrant gene expression levels as potential pathogenic events. However, existing methods for detecting aberrant read counts ...

journal_title：American journal of human genetics

authors： Brechtmann F,Mertes C,Matusevičiūtė A,Yépez VA,Avsec Ž,Herzog M,Bader DM,Prokisch H,Gagneur J

更新日期：2018-12-06 00:00:00

abstract：:Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI ...

journal_title：American journal of human genetics

authors： Carmignac V,Thevenon J,Adès L,Callewaert B,Julia S,Thauvin-Robinet C,Gueneau L,Courcet JB,Lopez E,Holman K,Renard M,Plauchu H,Plessis G,De Backer J,Child A,Arno G,Duplomb L,Callier P,Aral B,Vabres P,Gigot N,Arbu

更新日期：2012-11-02 00:00:00

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

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

abstract：:Colorectal cancer (CRC) heritability has been estimated to be around 30%. However, mutations in the known CRC-susceptibility genes explain CRC risk in fewer than 10% of affected individuals. Germline mutations in DNA-repair genes (DRGs) have recently been reported in CRC, but their contribution to CRC risk is largely ...

journal_title：American journal of human genetics

authors： AlDubayan SH,Giannakis M,Moore ND,Han GC,Reardon B,Hamada T,Mu XJ,Nishihara R,Qian Z,Liu L,Yurgelun MB,Syngal S,Garraway LA,Ogino S,Fuchs CS,Van Allen EM

更新日期：2018-03-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a common neurological disorder that affects 5%-12% of all whites. To genetically dissect this complex disease, we characterized 15 large and extended multiplex pedigrees, consisting of 453 subjects (134 affected with RLS). A familial aggregation analysis was performed, and SAGE FCOR was...

journal_title：American journal of human genetics

authors： Chen S,Ondo WG,Rao S,Li L,Chen Q,Wang Q

更新日期：2004-05-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome...

journal_title：American journal of human genetics

authors： Baldwin EL,May LF,Justice AN,Martin CL,Ledbetter DH

更新日期：2008-02-01 00:00:00

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

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

abstract：:Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

journal_title：American journal of human genetics

authors： Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

更新日期：1999-02-01 00:00:00

abstract：:Independent replication of linkage in previously studied pedigrees is desirable when genetic heterogeneity is suspected or when the illness is very rare. When the likelihood of the new data in this type of replication study is computed as conditional on the previously reported linkage results, it can be considered ind...

journal_title：American journal of human genetics

authors： Gershon ES,Goldin LR

更新日期：1994-04-01 00:00:00

abstract：:We have previously shown that rheumatoid arthritis (RA) risk alleles overlap between different ethnic groups. Here, we utilize a multiethnic approach to show that we can effectively discover RA risk alleles. Thirteen putatively associated SNPs that had not yet exceeded genome-wide significance (p < 5 × 10(-8)) in our ...

journal_title：American journal of human genetics

authors： Kurreeman FA,Stahl EA,Okada Y,Liao K,Diogo D,Raychaudhuri S,Freudenberg J,Kochi Y,Patsopoulos NA,Gupta N,CLEAR investigators.,Sandor C,Bang SY,Lee HS,Padyukov L,Suzuki A,Siminovitch K,Worthington J,Gregersen PK,Hugh

更新日期：2012-03-09 00:00:00

abstract：:The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(...

journal_title：American journal of human genetics

authors： Vicente CT,Edwards SL,Hillman KM,Kaufmann S,Mitchell H,Bain L,Glubb DM,Lee JS,French JD,Ferreira MA

更新日期：2015-08-06 00:00:00

abstract：:The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both t...

journal_title：American journal of human genetics

authors： Biancalana V,Taine L,Bouix JC,Finck S,Chauvin A,De Verneuil H,Knight SJ,Stoll C,Lacombe D,Mandel JL

更新日期：1996-10-01 00:00:00

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

authors： Zhao J,Jin L,Xiong M

更新日期：2006-11-01 00:00:00

abstract：:We present a full-likelihood method to infer polygenic adaptation from DNA sequence variation and GWAS summary statistics to quantify recent transient directional selection acting on a complex trait. Through simulations of polygenic trait architecture evolution and GWASs, we show the method substantially improves powe...

journal_title：American journal of human genetics

authors： Stern AJ,Speidel L,Zaitlen NA,Nielsen R

更新日期：2021-01-08 00:00:00

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

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

abstract：:Model-free LOD-score methods are often employed to detect linkage between marker loci and common diseases, with samples of affected sib pairs. Although extensions of the basic one-disease-locus model have been proposed that allow separate inclusion of other types of affected relative pairs, discordant relative pairs, ...

journal_title：American journal of human genetics

authors： Olson JM

更新日期：1999-12-01 00:00:00

abstract：:We have isolated 68 new RFLP markers on human chromosome 6. Of these, 64 were localized on chromosomal bands by the fluorescent in-situ hybridization (FISH) method, 25 on the short arm and 39 on the long arm. Their distribution was uneven; the markers were localized predominantly in regions of R-positive banding. Elev...

journal_title：American journal of human genetics

authors： Saito S,Okui K,Tokino T,Oshimura M,Nakamura Y

更新日期：1992-01-01 00:00:00

abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

journal_title：American journal of human genetics

authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

更新日期：2018-02-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations...

journal_title：American journal of human genetics

authors： Aksentijevich I,Torosyan Y,Samuels J,Centola M,Pras E,Chae JJ,Oddoux C,Wood G,Azzaro MP,Palumbo G,Giustolisi R,Pras M,Ostrer H,Kastner DL

更新日期：1999-04-01 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：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...

journal_title：American journal of human genetics

authors： Wong FL,Cantor RM,Rotter JI

更新日期：1986-07-01 00:00:00

abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

journal_title：American journal of human genetics

authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

更新日期：1986-04-01 00:00:00

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

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

更新日期：2001-01-01 00:00:00