Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.

abstract：:We obtained conclusive linkage of Alzheimer disease (AD) with a candidate region of 19.7 cM at 7q36 in an extended multiplex family, family 1270, ascertained in a population-based study of early-onset AD in the northern Netherlands. Single-nucleotide polymorphism and haplotype association analyses of a Dutch patient-c...

journal_title：American journal of human genetics

authors： Rademakers R,Cruts M,Sleegers K,Dermaut B,Theuns J,Aulchenko Y,Weckx S,De Pooter T,Van den Broeck M,Corsmit E,De Rijk P,Del-Favero J,van Swieten J,van Duijn CM,Van Broeckhoven C

更新日期：2005-10-01 00:00:00

abstract：:The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...

journal_title：American journal of human genetics

authors： Abel L,Müller-Myhsok B

更新日期：1998-08-01 00:00:00

abstract：:The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biolog...

journal_title：American journal of human genetics

authors： Ashton GC

更新日期：1980-07-01 00:00:00

abstract：:Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequenced 197 genes encoding glutamate receptors and a large subset of th...

journal_title：American journal of human genetics

authors： Hamdan FF,Gauthier J,Araki Y,Lin DT,Yoshizawa Y,Higashi K,Park AR,Spiegelman D,Dobrzeniecka S,Piton A,Tomitori H,Daoud H,Massicotte C,Henrion E,Diallo O,S2D Group.,Shekarabi M,Marineau C,Shevell M,Maranda B,Mitche

更新日期：2011-03-11 00:00:00

abstract：:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had micr...

journal_title：American journal of human genetics

authors： Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CM

更新日期：2003-06-01 00:00:00

abstract：:Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic ...

journal_title：American journal of human genetics

authors： Szepetowski P,Rochette J,Berquin P,Piussan C,Lathrop GM,Monaco AP

更新日期：1997-10-01 00:00:00

abstract：:In this paper we present linkage results from the analysis of 18 Utah breast cancer kindreds, for three 17q markers. Four kindreds had LOD scores greater than 1.0 for at least one of the marker loci. One of these kindreds has a LOD score of 6.07 with D17S579, and we believe it to be the most informative 17q family rep...

journal_title：American journal of human genetics

authors： Goldgar DE,Cannon-Albright LA,Oliphant A,Ward JH,Linker G,Swensen J,Tran TD,Fields P,Uharriet P,Skolnick MH

更新日期：1993-04-01 00:00:00

abstract：:Elevated body mass index (BMI) associates with cardiometabolic traits on observational analysis, yet the underlying causal relationships remain unclear. We conducted Mendelian randomization analyses by using a genetic score (GS) comprising 14 BMI-associated SNPs from a recent discovery analysis to investigate the caus...

journal_title：American journal of human genetics

authors： Holmes MV,Lange LA,Palmer T,Lanktree MB,North KE,Almoguera B,Buxbaum S,Chandrupatla HR,Elbers CC,Guo Y,Hoogeveen RC,Li J,Li YR,Swerdlow DI,Cushman M,Price TS,Curtis SP,Fornage M,Hakonarson H,Patel SR,Redline S,S

更新日期：2014-02-06 00:00:00

abstract：:Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

journal_title：American journal of human genetics

authors： Wallis GA,Starman BJ,Zinn AB,Byers PH

更新日期：1990-06-01 00:00:00

abstract：:In this report, we describe a simple correction for multiple testing of single-nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with each other, on the basis of the spectral decomposition (SpD) of matrices of pairwise LD between SNPs. This method provides a useful alternative to more computationally inte...

journal_title：American journal of human genetics

authors： Nyholt DR

更新日期：2004-04-01 00:00:00

abstract：:Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of ...

journal_title：American journal of human genetics

authors： Mathew CG,Thorpe K,Easton DF,Chin KS,Jadayel D,Ponder M,Moore G,Wallis CE,Slater CP,De Jong G

更新日期：1989-01-01 00:00:00

abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

journal_title：American journal of human genetics

authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

更新日期：1997-12-01 00:00:00

abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

journal_title：American journal of human genetics

authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

更新日期：2002-02-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

journal_title：American journal of human genetics

authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

更新日期：1990-03-01 00:00:00

abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

journal_title：American journal of human genetics

authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

更新日期：2011-10-07 00:00:00

abstract：:Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All of the mutations would...

journal_title：American journal of human genetics

authors： Das S,Levinson B,Whitney S,Vulpe C,Packman S,Gitschier J

更新日期：1994-11-01 00:00:00

abstract：:A collection of 1,069 human PCR-based genetic markers has been developed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-repeat DNA sequence. The majority (85%) of the markers described here were selected to contain tetranucleotide...

journal_title：American journal of human genetics

authors：

更新日期：1995-09-01 00:00:00

abstract：:Allelic data for the D1S80 locus was obtained by using the PCR and subsequent analysis with a high-resolution, horizontal PAGE technique and silver staining. Compared with RFLP analysis of VNTR loci by Southern blotting, the approach described in this paper offers certain advantages: (1) discrete allele resolution, (2...

journal_title：American journal of human genetics

authors： Budowle B,Chakraborty R,Giusti AM,Eisenberg AJ,Allen RC

更新日期：1991-01-01 00:00:00

abstract：:Knowledge of the number of causative loci is necessary to estimate the power of mapping studies of complex diseases. In the present article, we reexamine a theory developed by Risch and its implications for estimating the number L of causative loci affecting a complex inherited disease. We first show that methods base...

journal_title：American journal of human genetics

authors： Schliekelman P,Slatkin M

更新日期：2002-12-01 00:00:00

abstract：:Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

journal_title：American journal of human genetics

authors： Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

更新日期：2018-04-05 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：:A genetic approach is used to ascertain that a single structural locus for triosephosphate isomerase (TPI) (E.C.5.3.1.1.) is expressed in rapidly dividing human lymphoblasts. This approach is made possible through the identification of a rare electrophoretic variant of human TPI. The variant phenotype is expressed by ...

journal_title：American journal of human genetics

authors： Decker RS,Mohrenweiser HW

更新日期：1981-09-01 00:00:00

abstract：:Estimation of recombination fractions and interference coefficients is of importance in multilocus linkage analysis. With the development of molecular genetic technologies such as RFLP, multilocus data are readily available to researchers. Several methods have been developed to analyze such data, and each performs wel...

journal_title：American journal of human genetics

authors： Zhao LP,Thompson E,Prentice R

更新日期：1990-08-01 00:00:00

abstract：:Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of...

journal_title：American journal of human genetics

authors： Daly SB,Urquhart JE,Hilton E,McKenzie EA,Kammerer RA,Lewis M,Kerr B,Stuart H,Donnai D,Long DA,Burgu B,Aydogdu O,Derbent M,Garcia-Minaur S,Reardon W,Gener B,Shalev S,Smith R,Woolf AS,Black GC,Newman WG

更新日期：2010-06-11 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：:Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus. This region includes the last five exons detected by cDNA5b-7, all exons detected by cDNA8, and the first two exons detected by cDNA9. ...

journal_title：American journal of human genetics

authors： Gillard EF,Chamberlain JS,Murphy EG,Duff CL,Smith B,Burghes AH,Thompson MW,Sutherland J,Oss I,Bodrug SE

更新日期：1989-10-01 00:00:00

abstract：:Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a number of studies examining different populations. A total of 9 simpl...

journal_title：American journal of human genetics

authors： Brzustowicz LM,Wang CH,Matseoane D,Kleyn PW,Vitale E,Das K,Penchaszadeh GK,Munsat TL,Hausmanowa-Petrusewicz I,Gilliam TC

更新日期：1995-01-01 00:00:00

abstract：:A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in...

journal_title：American journal of human genetics

authors： Karlin S,Kenett R,Bonné-Tamir B

更新日期：1979-05-01 00:00:00

abstract：:Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we per...

journal_title：American journal of human genetics

authors： Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella C

更新日期：1999-05-01 00:00:00

abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

journal_title：American journal of human genetics

authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

更新日期：1991-01-01 00:00:00