A multipoint linkage map of the distal short arm of the human X chromosome.

abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

journal_title：American journal of human genetics

authors： Goldman A,Ramsay M,Jenkins T

更新日期：1995-06-01 00:00:00

abstract：:Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with Down syndrome (DS) and mouse models we can discover novel targets for prenatal t...

journal_title：American journal of human genetics

authors： Guedj F,Siegel AE,Pennings JLA,Alsebaa F,Massingham LJ,Tantravahi U,Bianchi DW

更新日期：2020-11-05 00:00:00

abstract：:Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals at low and high risk of developing CRC, as they can then be offered targeted screening and interventions to address their risks of developing disease (if they are in a high-risk group) and avoid unnecessary screening and i...

journal_title：American journal of human genetics

authors： Thomas M,Sakoda LC,Hoffmeister M,Rosenthal EA,Lee JK,van Duijnhoven FJB,Platz EA,Wu AH,Dampier CH,de la Chapelle A,Wolk A,Joshi AD,Burnett-Hartman A,Gsur A,Lindblom A,Castells A,Win AK,Namjou B,Van Guelpen B,Tangen

更新日期：2020-09-03 00:00:00

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：:To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted het...

journal_title：American journal of human genetics

authors： Clemens PR,Fenwick RG,Chamberlain JS,Gibbs RA,de Andrade M,Chakraborty R,Caskey CT

更新日期：1991-11-01 00:00:00

abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...

journal_title：American journal of human genetics

authors： Zietkiewicz E,Yotova V,Gehl D,Wambach T,Arrieta I,Batzer M,Cole DE,Hechtman P,Kaplan F,Modiano D,Moisan JP,Michalski R,Labuda D

更新日期：2003-11-01 00:00:00

abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...

journal_title：American journal of human genetics

authors： Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa T

更新日期：1995-05-01 00:00:00

abstract：:Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...

journal_title：American journal of human genetics

authors： Shete S,Amos CI

更新日期：2002-03-01 00:00:00

abstract：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...

journal_title：American journal of human genetics

authors： Lorber BJ,Grantham M,Peters J,Willard HF,Hassold TJ

更新日期：1992-12-01 00:00:00

abstract：:Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the ...

journal_title：American journal of human genetics

authors：

更新日期：1999-11-01 00:00:00

abstract：:We present methods for linkage and association mapping of quantitative traits for a founder population with a large, known genealogy. We detect linkage to quantitative-trait loci (QTLs) through a multipoint homozygosity-mapping method. We propose two association methods, one of which is single point and uses a general...

journal_title：American journal of human genetics

authors： Abney M,Ober C,McPeek MS

更新日期：2002-04-01 00:00:00

abstract：:Genes on chromosomes 17q and 18q have been shown to code for putative tumor suppressors. By a combination of allele-loss studies on sporadic ovarian carcinomas and linkage analysis on a breast/ovarian cancer family, we have investigated the involvement of such genes in these diseases. Allele loss occurred in sporadic ...

journal_title：American journal of human genetics

authors： Milner BJ,Allan LA,Kelly KF,Cruickshank D,Hall M,Johnston A,Kitchener H,Parkin D,Haites N

更新日期：1993-04-01 00:00:00

abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

journal_title：American journal of human genetics

authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

更新日期：2008-07-01 00:00:00

abstract：:The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density...

journal_title：American journal of human genetics

authors： Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

更新日期：2003-05-01 00:00:00

abstract：:When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

journal_title：American journal of human genetics

authors： Sham PC,Lin MW,Zhao JH,Curtis D

更新日期：2000-05-01 00:00:00

abstract：:Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotyp...

journal_title：American journal of human genetics

authors： Kedda MA,Stevens G,Manga P,Viljoen C,Jenkins T,Ramsay M

更新日期：1994-06-01 00:00:00

abstract：:Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosyn...

journal_title：American journal of human genetics

authors： Robert-Richard E,Moreau-Gaudry F,Lalanne M,Lamrissi-Garcia I,Cario-André M,Guyonnet-Dupérat V,Taine L,Ged C,de Verneuil H

更新日期：2008-01-01 00:00:00

abstract：:Understanding the nature of the genetic regulation of gene expression promises to advance our understanding of the genetic basis of disease. However, the methodological impact of the use of local ancestry on high-dimensional omics analyses, including, most prominently, expression quantitative trait loci (eQTL) mapping...

journal_title：American journal of human genetics

authors： Zhong Y,Perera MA,Gamazon ER

更新日期：2019-06-06 00:00:00

abstract：:Attention-deficit hyperactivity disorder (ADHD) affects approximately 3%-5% of children in the United States. In the current psychiatric nomenclature, ADHD comprises three subtypes: inattentive, hyperactive-impulsive, and combined. In this study, we used four analytic strategies to examine the association and linkage ...

journal_title：American journal of human genetics

authors： Waldman ID,Rowe DC,Abramowitz A,Kozel ST,Mohr JH,Sherman SL,Cleveland HH,Sanders ML,Gard JM,Stever C

更新日期：1998-12-01 00:00:00

abstract：:We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. ...

journal_title：American journal of human genetics

authors： Driscoll MC,Lerner N,Anyane-Yeboa K,Maidman J,Warburton D,Schaefer-Rego K,Hsu R,Ince C,Malin J,Pallai M

更新日期：1987-06-01 00:00:00

abstract：:Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identifie...

journal_title：American journal of human genetics

authors： Dreyer B,Tranebjaerg L,Brox V,Rosenberg T,Möller C,Beneyto M,Weston MD,Kimberling WJ,Cremers CW,Liu XZ,Nilssen O

更新日期：2001-07-01 00:00:00

abstract：:X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...

journal_title：American journal of human genetics

authors： Plenge RM,Tranebjaerg L,Jensen PK,Schwartz C,Willard HF

更新日期：1999-03-01 00:00:00

abstract：:Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to ch...

journal_title：American journal of human genetics

authors： Shapira SK,McCaskill C,Northrup H,Spikes AS,Elder FF,Sutton VR,Korenberg JR,Greenberg F,Shaffer LG

更新日期：1997-09-01 00:00:00

abstract：:We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (R...

journal_title：American journal of human genetics

authors： Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

更新日期：2001-03-01 00:00:00

abstract：:Small low-density lipoprotein (LDL) particles are a genetically influenced coronary disease risk factor. Lipoprotein lipase (LpL) is a rate-limiting enzyme in the formation of LDL particles. The current study examined genetic linkage of LDL particle size to the LpL gene in five families with structural mutations in th...

journal_title：American journal of human genetics

authors： Hokanson JE,Brunzell JD,Jarvik GP,Wijsman EM,Austin MA

更新日期：1999-02-01 00:00:00

abstract：:The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a com...

journal_title：American journal of human genetics

authors： MacKenzie AE,MacLeod HL,Hunter AG,Korneluk RG

更新日期：1989-01-01 00:00:00

abstract：:Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine...

journal_title：American journal of human genetics

authors： Saadi I,Alkuraya FS,Gisselbrecht SS,Goessling W,Cavallesco R,Turbe-Doan A,Petrin AL,Harris J,Siddiqui U,Grix AW Jr,Hove HD,Leboulch P,Glover TW,Morton CC,Richieri-Costa A,Murray JC,Erickson RP,Maas RL

更新日期：2011-07-15 00:00:00

abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mut...

journal_title：American journal of human genetics

authors： Edwards SJ,Gladwin AJ,Dixon MJ

更新日期：1997-03-01 00:00:00

abstract：:Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints of the common 1.4-Mb (type 1) deletions are located within low-copy repeats (NF1-REPs) and cluster within a 3.4-kb hotspot of nonallelic homologous recombinatio...

journal_title：American journal of human genetics

authors： Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H

更新日期：2007-12-01 00:00:00

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

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