Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).

abstract：:Both the optimal marker density for genome scans in case-control association studies and the appropriate study design for the testing of candidate genes depend on the genomic pattern of linkage disequilibrium (LD). In this study, we provide the first conclusive demonstration that the diverse demographic histories of h...

journal_title：American journal of human genetics

authors： Wilson JF,Goldstein DB

更新日期：2000-10-01 00:00:00

abstract：:Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, fre...

journal_title：American journal of human genetics

authors： Robertson SP,Walsh S,Oldridge M,Gunn T,Becroft D,Wilkie AO

更新日期：2001-07-01 00:00:00

abstract：:We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syn...

journal_title：American journal of human genetics

authors： Patel N,Khan AO,Mansour A,Mohamed JY,Al-Assiri A,Haddad R,Jia X,Xiong Y,Mégarbané A,Traboulsi EI,Alkuraya FS

更新日期：2014-05-01 00:00:00

abstract：:As genetic maps become denser, the effect of laboratory typing errors becomes more serious. We review a general method for detecting errors in pedigree genotyping data that is a variant of the likelihood-ratio test statistic. It pinpoints individuals and loci with relatively unlikely genotypes. Power and significance ...

journal_title：American journal of human genetics

authors： Ehm MG,Kimmel M,Cottingham RW Jr

更新日期：1996-01-01 00:00:00

abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

journal_title：American journal of human genetics

authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

更新日期：2019-07-03 00:00:00

abstract：:The genetics of African North Americans are complex amalgamations of various West and Central African peoples with modest gene flow from specific European and Amerindian peoples. A comprehensive understanding of African North American biohistory is a prerequisite for accurate interpretations of the ancestral genetics ...

journal_title：American journal of human genetics

authors： Jackson FLC

更新日期：2021-01-07 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：:Height has been used for more than a century as a model by which to understand quantitative genetic variation in humans. We report that the entire genome appears to contribute to its additive genetic variance. We used genotypes and phenotypes of 11,214 sibling pairs from three countries to partition additive genetic v...

journal_title：American journal of human genetics

authors： Visscher PM,Macgregor S,Benyamin B,Zhu G,Gordon S,Medland S,Hill WG,Hottenga JJ,Willemsen G,Boomsma DI,Liu YZ,Deng HW,Montgomery GW,Martin NG

更新日期：2007-11-01 00:00:00

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

authors： Mao X

更新日期：1998-09-01 00:00:00

abstract：:Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color visio...

journal_title：American journal of human genetics

authors： Jørgensen AL,Philip J,Raskind WH,Matsushita M,Christensen B,Dreyer V,Motulsky AG

更新日期：1992-08-01 00:00:00

abstract：:About 20%-25% of Caucasian individuals are nonsecretors who fail to express soluble A, B, H, and Lewis b histo-blood group antigens in secretory organs and secretory fluids because of the absence of the Secretor gene (FUT2)-encoded alpha(1,2)-fucosyltransferase (Se enzyme) activity. Recently, the FUT2 and a pseudogene...

journal_title：American journal of human genetics

authors： Koda Y,Soejima M,Liu Y,Kimura H

更新日期：1996-08-01 00:00:00

abstract：:Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees. There is evidence of genetic heterogeneity, with other pedigrees sh...

journal_title：American journal of human genetics

authors： Good DA,Busfield F,Fletcher BH,Duffy DL,Kesting JB,Andersen J,Shaw JT

更新日期：2002-02-01 00:00:00

abstract：:Whether smoking-associated DNA methylation has a causal effect on lung function has not been thoroughly evaluated. We first investigated the causal effects of 474 smoking-associated CpGs on forced expiratory volume in 1 s (FEV1) in UK Biobank (n = 321,047) by using two-sample Mendelian randomization (MR) and then repl...

journal_title：American journal of human genetics

authors： Jamieson E,Korologou-Linden R,Wootton RE,Guyatt AL,Battram T,Burrows K,Gaunt TR,Tobin MD,Munafò M,Davey Smith G,Tilling K,Relton C,Richardson TG,Richmond RC

更新日期：2020-03-05 00:00:00

abstract：:Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not cli...

journal_title：American journal of human genetics

authors： Saar K,Chrzanowska KH,Stumm M,Jung M,Nürnberg G,Wienker TF,Seemanová E,Wegner RD,Reis A,Sperling K

更新日期：1997-03-01 00:00:00

abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

journal_title：American journal of human genetics

authors： Green PM,Saad S,Lewis CM,Giannelli F

更新日期：1999-12-01 00:00:00

abstract：:The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to these two loci. None...

journal_title：American journal of human genetics

authors： Sykes B,Ogilvie D,Wordsworth P,Wallis G,Mathew C,Beighton P,Nicholls A,Pope FM,Thompson E,Tsipouras P

更新日期：1990-02-01 00:00:00

abstract：:Retinitis pigmentosa is the name given to a heterogeneous group of hereditary retinal degenerations characterized by progressive visual field loss, pigmentary changes of the retina, abnormal electroretinograms, and, frequently, night blindness. In this study, we investigated a family with dominant cone-rod degeneratio...

journal_title：American journal of human genetics

authors： McGuire RE,Sullivan LS,Blanton SH,Church MW,Heckenlively JR,Daiger SP

更新日期：1995-07-01 00:00:00

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

authors： McGue M,Gottesman II,Rao DC

更新日期：1983-11-01 00:00:00

abstract：:In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, west...

journal_title：American journal of human genetics

authors： Rootwelt H,Brodtkorb E,Kvittingen EA

更新日期：1994-12-01 00:00:00

abstract：:It has been proposed that gluten sensitive enteropathy (GSE) results from the interaction of two loci: one locus linked to HLA and associated with dominant inheritance, and the other, a non-HLA-linked GSE-associated B-cell alloantigen, exhibiting recessive inheritance. We have shown in previous analyses that a two-loc...

journal_title：American journal of human genetics

authors： Greenberg DA,Hodge SE,Rotter JI

更新日期：1982-03-01 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：: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：:Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS r...

journal_title：American journal of human genetics

authors： Paschou P,Feng Y,Pakstis AJ,Speed WC,DeMille MM,Kidd JR,Jaghori B,Kurlan R,Pauls DL,Sandor P,Barr CL,Kidd KK

更新日期：2004-10-01 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：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

journal_title：American journal of human genetics

authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

更新日期：1991-08-01 00:00:00

abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

journal_title：American journal of human genetics

authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

更新日期：1991-09-01 00:00:00

abstract：:Centromeric-mapping methods have been used to investigate the association between altered recombination and meiotic nondisjunction in humans. For trisomies, current methods are based on the genotypes from a trisomic offspring and both parents. Because it is sometimes difficult to obtain samples from both parents and b...

journal_title：American journal of human genetics

authors： Feingold E,Brown AS,Sherman SL

更新日期：2000-03-01 00:00:00

abstract：:Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

journal_title：American journal of human genetics

authors： Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

更新日期：2004-04-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in thes...

journal_title：American journal of human genetics

authors： Wooderchak-Donahue WL,McDonald J,O'Fallon B,Upton PD,Li W,Roman BL,Young S,Plant P,Fülöp GT,Langa C,Morrell NW,Botella LM,Bernabeu C,Stevenson DA,Runo JR,Bayrak-Toydemir P

更新日期：2013-09-05 00:00:00

abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

journal_title：American journal of human genetics

authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

更新日期：1984-07-01 00:00:00