Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.

abstract：:Now that the cystic fibrosis (CF) gene has been identified, direct genetic testing for this disorder is available. The current lack of precision has generated a controversy concerning whether population screening is advisable. However, there is general agreement that testing for CF carriers should be offered to CF-aff...

journal_title：American journal of human genetics

authors： Fanos JH,Johnson JP

更新日期：1995-08-01 00:00:00

abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

journal_title：American journal of human genetics

authors： Bodurtha J,Spence JE,Stevens CA

更新日期：1991-08-01 00:00:00

abstract：:It is unclear at present whether specific mtDNA point mutations accumulate during normal human aging. In order to address this question, we used quantitative PCR of total DNA isolated from skeletal muscle from normal individuals of various ages to search for the presence and amount of spontaneous mtDNA point mutations...

journal_title：American journal of human genetics

authors： Pallotti F,Chen X,Bonilla E,Schon EA

更新日期：1996-09-01 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

abstract：:Previously, we demonstrated evidence of linkage to bipolar affective disorder (BP) in a single large, multigenerational family with a LOD score of 3.41 at the PFKL locus on chromosome 21q22.3. Additional families showed little support for linkage to PFKL under homogeneity or heterogeneity, in that study. We have expan...

journal_title：American journal of human genetics

authors： Aita VM,Liu J,Knowles JA,Terwilliger JD,Baltazar R,Grunn A,Loth JE,Kanyas K,Lerer B,Endicott J,Wang Z,Penchaszadeh G,Gilliam TC,Baron M

更新日期：1999-01-01 00:00:00

abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

journal_title：American journal of human genetics

authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

更新日期：2018-09-06 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：:Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations--693C-->A, 854A-->C, and 914C-->A--were identified in the coding sequence. The 693C-->A and 914C-->A base changes, resultin...

journal_title：American journal of human genetics

authors： Kaul R,Gao GP,Aloya M,Balamurugan K,Petrosky A,Michals K,Matalon R

更新日期：1994-07-01 00:00:00

abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

journal_title：American journal of human genetics

authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

更新日期：1976-07-01 00:00:00

abstract：:Age at onset of motor symptoms was collected on 611 persons affected with Huntington disease (HD) among 3,201 persons "at risk" in 108 kindreds. Life-table estimates correcting for truncated intervals of observation (censoring) produced a median age at onset 5 years older than the observed mean. Risk estimates of HD o...

journal_title：American journal of human genetics

authors： Adams P,Falek A,Arnold J

更新日期：1988-11-01 00:00:00

abstract：:The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding its extracellular ligand, C-type natriuretic peptide (CNP). CNP has previously been implicated in the regulation of skel...

journal_title：American journal of human genetics

authors： Bartels CF,Bükülmez H,Padayatti P,Rhee DK,van Ravenswaaij-Arts C,Pauli RM,Mundlos S,Chitayat D,Shih LY,Al-Gazali LI,Kant S,Cole T,Morton J,Cormier-Daire V,Faivre L,Lees M,Kirk J,Mortier GR,Leroy J,Zabel B,Kim CA,

更新日期：2004-07-01 00:00:00

abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

journal_title：American journal of human genetics

authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

更新日期：1995-04-01 00:00:00

abstract：:Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region...

journal_title：American journal of human genetics

authors： Marazita ML,Murray JC,Lidral AC,Arcos-Burgos M,Cooper ME,Goldstein T,Maher BS,Daack-Hirsch S,Schultz R,Mansilla MA,Field LL,Liu YE,Prescott N,Malcolm S,Winter R,Ray A,Moreno L,Valencia C,Neiswanger K,Wyszynski DF,

更新日期：2004-08-01 00:00:00

abstract：:Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder. ...

journal_title：American journal of human genetics

authors： Pelias MZ,Thurmon TF

更新日期：1979-09-01 00:00:00

abstract：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we ident...

journal_title：American journal of human genetics

authors： Ilkovski B,Cooper ST,Nowak K,Ryan MM,Yang N,Schnell C,Durling HJ,Roddick LG,Wilkinson I,Kornberg AJ,Collins KJ,Wallace G,Gunning P,Hardeman EC,Laing NG,North KN

更新日期：2001-06-01 00:00:00

abstract：:Assignment of alleles to haplotypes for nearly all the variants on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children. Whole-genome sequence data enable deterministic phasing of nearly all sequenced alleles by permitting assignment of recombinations to precise chromoso...

journal_title：American journal of human genetics

authors： Roach JC,Glusman G,Hubley R,Montsaroff SZ,Holloway AK,Mauldin DE,Srivastava D,Garg V,Pollard KS,Galas DJ,Hood L,Smit AF

更新日期：2011-09-09 00:00:00

abstract：:Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...

journal_title：American journal of human genetics

authors： Meitlis I,Allenspach EJ,Bauman BM,Phan IQ,Dabbah G,Schmitt EG,Camp ND,Torgerson TR,Nickerson DA,Bamshad MJ,Hagin D,Luthers CR,Stinson JR,Gray J,Lundgren I,Church JA,Butte MJ,Jordan MB,Aceves SS,Schwartz DM,Milner

更新日期：2020-12-03 00:00:00

abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...

journal_title：American journal of human genetics

authors： Han S,Yang BZ,Kranzler HR,Liu X,Zhao H,Farrer LA,Boerwinkle E,Potash JB,Gelernter J

更新日期：2013-12-05 00:00:00

abstract：:Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, Ta...

journal_title：American journal of human genetics

authors： Graham JB,Kunkel GR,Egilmez NK,Wallmark A,Fowlkes DM,Lord ST

更新日期：1991-09-01 00:00:00

abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

journal_title：American journal of human genetics

authors： Ryynänen M,Knowlton RG,Uitto J

更新日期：1991-11-01 00:00:00

abstract：:Allele-specific replication differences have been observed in imprinted chromosomal regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples ...

journal_title：American journal of human genetics

authors： White LM,Rogan PK,Nicholls RD,Wu BL,Korf B,Knoll JH

更新日期：1996-08-01 00:00:00

abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...

journal_title：American journal of human genetics

authors： Bell MV,Bloomfield J,McKinley M,Patterson MN,Darlison MG,Barnard EA,Davies KE

更新日期：1989-12-01 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：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...

journal_title：American journal of human genetics

authors： Simard L,O'Brien WE,McInnes RR

更新日期：1986-07-01 00:00:00

abstract：:Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (an...

journal_title：American journal of human genetics

authors： Veldhuisen B,Saris JJ,de Haij S,Hayashi T,Reynolds DM,Mochizuki T,Elles R,Fossdal R,Bogdanova N,van Dijk MA,Coto E,Ravine D,Nørby S,Verellen-Dumoulin C,Breuning MH,Somlo S,Peters DJ

更新日期：1997-09-01 00:00:00

abstract：:Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally inherited disease....

journal_title：American journal of human genetics

authors： Johns DR,Neufeld MJ

更新日期：1993-10-01 00:00:00

abstract：:Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower ...

journal_title：American journal of human genetics

authors： Wallmeier J,Shiratori H,Dougherty GW,Edelbusch C,Hjeij R,Loges NT,Menchen T,Olbrich H,Pennekamp P,Raidt J,Werner C,Minegishi K,Shinohara K,Asai Y,Takaoka K,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer

更新日期：2016-08-04 00:00:00

abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

journal_title：American journal of human genetics

authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

更新日期：1991-08-01 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：:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chr...

journal_title：American journal of human genetics

authors： Chiang AP,Nishimura D,Searby C,Elbedour K,Carmi R,Ferguson AL,Secrist J,Braun T,Casavant T,Stone EM,Sheffield VC

更新日期：2004-09-01 00:00:00