Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

abstract：:DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-...

journal_title：American journal of human genetics

authors： Beutler E,Nguyen NJ,Henneberger MW,Smolec JM,McPherson RA,West C,Gelbart T

更新日期：1993-01-01 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

journal_title：American journal of human genetics

authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

更新日期：2006-12-01 00:00:00

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

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

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：: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

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

abstract：:Human neuroblastoma cells often are monosomic for the distal portion of 1p (1p36). We report that the deleted 1p material in cells of neuroblastoma lines is preferentially replaced by material from chromosome 17, resulting from an unbalanced 1;17 translocation. Chromosome 17 often acquires instability, followed by the...

journal_title：American journal of human genetics

authors： Savelyeva L,Corvi R,Schwab M

更新日期：1994-08-01 00:00:00

abstract：:Diffuse panbronchiolitis affecting East Asians is strongly associated with the class I human leukocyte antigen (HLA) alleles. Recent observations suggest that a major disease-susceptibility gene may be located between the HLA-B and HLA-A loci in the class I region of the major histocompatibility complex on chromosome ...

journal_title：American journal of human genetics

authors： Keicho N,Ohashi J,Tamiya G,Nakata K,Taguchi Y,Azuma A,Ohishi N,Emi M,Park MH,Inoko H,Tokunaga K,Kudoh S

更新日期：2000-02-01 00:00:00

abstract：:We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectivenes...

journal_title：American journal of human genetics

authors： Pearson JV,Huentelman MJ,Halperin RF,Tembe WD,Melquist S,Homer N,Brun M,Szelinger S,Coon KD,Zismann VL,Webster JA,Beach T,Sando SB,Aasly JO,Heun R,Jessen F,Kolsch H,Tsolaki M,Daniilidou M,Reiman EM,Papassotiropoul

更新日期：2007-01-01 00:00:00

abstract：:DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our results indicate that c-Ha-ras-1 is closely linked to both the beta-g...

journal_title：American journal of human genetics

authors： Fearon ER,Antonarakis SE,Meyers DA,Levine MA

更新日期：1984-03-01 00:00:00

abstract：:The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there are well over 1500 Mendelian disorders whose molecular basis remains unknown. At present, methods such as linkage analys...

journal_title：American journal of human genetics

authors： Köhler S,Bauer S,Horn D,Robinson PN

更新日期：2008-04-01 00:00:00

abstract：:The reported linkage between cutaneous melanoma and the dysplastic nevus syndrome (CM/DNS) to markers located on the distal portion of the short arm of chromosome 1 was examined in three Utah kindreds ascertained for multiple cases of melanoma. Family members in these kindreds were genotyped for the two markers report...

journal_title：American journal of human genetics

authors： Cannon-Albright LA,Goldgar DE,Wright EC,Turco A,Jost M,Meyer LJ,Piepkorn M,Zone JJ,Skolnick MH

更新日期：1990-05-01 00:00:00

abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

journal_title：American journal of human genetics

authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

更新日期：2003-04-01 00:00:00

abstract：:Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). PKU is a highly heterogeneous disorder, with more than 60 molecular lesions identified in the PAH gene. The haplotype...

journal_title：American journal of human genetics

authors： Eisensmith RC,Okano Y,Dasovich M,Wang T,Güttler F,Lou H,Guldberg P,Lichter-Konecki U,Konecki DS,Svensson E

更新日期：1992-12-01 00:00:00

abstract：:Recombination rates vary both across the genome and between different species, but little information is available about the temporal and physical scales over which such rates change. To shed light on these questions, we performed a high-resolution analysis of a genomic region within the beta-globin gene cluster that ...

journal_title：American journal of human genetics

authors： Wall JD,Frisse LA,Hudson RR,Di Rienzo A

更新日期：2003-12-01 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：: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：:The gamete-competition model is an application of the Bradley-Terry model for ranking of sports teams. If allele i of a marker locus is assigned parameter taui>0, then the probability that a parent with heterozygous genotype i/j transmits allele i is Pr(i/j-->)=tau(i)/(tau(i) + tau(j). Mendelian segregation correspond...

journal_title：American journal of human genetics

authors： Sinsheimer JS,Blangero J,Lange K

更新日期：2000-03-01 00:00:00

abstract：:The mtDNA variation of 74 Khoisan-speaking individuals (Kung and Khwe) from Schmidtsdrift, in the Northern Cape Province of South Africa, was examined by high-resolution RFLP analysis and control region (CR) sequencing. The resulting data were combined with published RFLP haplotype and CR sequence data from sub-Sahara...

journal_title：American journal of human genetics

authors： Chen YS,Olckers A,Schurr TG,Kogelnik AM,Huoponen K,Wallace DC

更新日期：2000-04-01 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：: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：:Lumbar-disc herniation (LDH), one of the most common musculoskeletal diseases, has strong genetic determinants. Recently, several genes that encode extracellular matrix (ECM) proteins in the intervertebral disc have been reported to associate with LDH. Thrombospondins (THBSs) 1 and 2 are good candidates for the LDH su...

journal_title：American journal of human genetics

authors： Hirose Y,Chiba K,Karasugi T,Nakajima M,Kawaguchi Y,Mikami Y,Furuichi T,Mio F,Miyake A,Miyamoto T,Ozaki K,Takahashi A,Mizuta H,Kubo T,Kimura T,Tanaka T,Toyama Y,Ikegawa S

更新日期：2008-05-01 00:00:00

abstract：:Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found...

journal_title：American journal of human genetics

authors： Tsipouras P,Børresen AL,Dickson LA,Berg K,Prockop DJ,Ramirez F

更新日期：1984-11-01 00:00:00

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

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

abstract：:The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cell with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied state...

journal_title：American journal of human genetics

authors： Jones IM,Palmer CG,Weaver DD,Hodes ME

更新日期：1981-03-01 00:00:00

abstract：:Duplications of proximal 15q have been found in individuals with autistic disorder (AD) and varying degrees of mental retardation. Often these abnormalities take the form of a supernumerary inverted duplicated chromosome 15, more properly described as an isodicentric chromosome 15, or idic(15). However, intrachromosom...

journal_title：American journal of human genetics

authors： Cook EH Jr,Lindgren V,Leventhal BL,Courchesne R,Lincoln A,Shulman C,Lord C,Courchesne E

更新日期：1997-04-01 00:00:00

abstract：:The PCR technique was used to analyze the DXYS17 locus in the pseudoautosomal region of the X and the Y chromosomes. Analysis on an automated DNA sequencer allowed for sensitive and highly accurate typing of 16 different alleles with a size between 480 and 1,100 bp. Two DXYS17 alleles migrated with the same size on ag...

journal_title：American journal of human genetics

authors： Decorte R,Wu R,Marynen P,Cassiman JJ

更新日期：1994-03-01 00:00:00

abstract：:Experiments designed to illuminate the mechanism by which folic acid and thymidine inhibit expression of the Xq28 fragile site in human lymphocytes are described. The fragile site is induced by 5-fluorodeoxyuridine (FUdR), a potent inhibitor of thymidylate synthetase, in the presence of otherwise inhibiting concentrat...

journal_title：American journal of human genetics

authors： Glover TW

更新日期：1981-03-01 00:00:00

abstract：:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...

journal_title：American journal of human genetics

authors： Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

更新日期：1992-08-01 00:00:00

abstract：:It has been observed that multiple sulfatase deficiency disorder (MSDD) fibroblasts contained from profoundly deficient to near normal amounts of arylsulfatase (ARS) A depending on the medium in which they were cultured. Our present findings show that the major factor determining the enzyme level is the pH of the medi...

journal_title：American journal of human genetics

authors： Fluharty AL,Stevens RL,de la Flor SD,Shapiro LJ,Kihara H

更新日期：1979-09-01 00:00:00

abstract：:Somatic cell hybrids were selected that retain a derivative chromosome 5 from an individual in which the p15.1-pter segment of chromosome 5 is replaced with the p15.1-pter segment of chromosome 4. Hybrids that retain this derivative chromosome exclusively were found to be positive for G8, a DNA marker closely linked t...

journal_title：American journal of human genetics

authors： Wasmuth JJ,Carlock LR,Smith B,Immken LL

更新日期：1986-09-01 00:00:00