A genomewide search for quantitative-trait loci underlying asthma.

abstract：:A model is considered to calculate effects of genetic drift on the expected proportion of new mutants amongst males affected by a sex-linked recessive lethal. We show how to relate the number of cases of the disorder in males to the expected deviations from the deterministic value of the proportion of new mutants. For...

journal_title：American journal of human genetics

authors： Slatkin M,Thomson G,Sawyer S

更新日期：1979-03-01 00:00:00

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：:We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes. ...

journal_title：American journal of human genetics

authors： Brown DT,Samuels DC,Michael EM,Turnbull DM,Chinnery PF

更新日期：2001-02-01 00:00:00

abstract：:Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we descr...

journal_title：American journal of human genetics

authors： Howard MF,Murakami Y,Pagnamenta AT,Daumer-Haas C,Fischer B,Hecht J,Keays DA,Knight SJ,Kölsch U,Krüger U,Leiz S,Maeda Y,Mitchell D,Mundlos S,Phillips JA 3rd,Robinson PN,Kini U,Taylor JC,Horn D,Kinoshita T,Krawitz P

更新日期：2014-02-06 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：:Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndro...

journal_title：American journal of human genetics

authors： Hoffmann K,Muller JS,Stricker S,Megarbane A,Rajab A,Lindner TH,Cohen M,Chouery E,Adaimy L,Ghanem I,Delague V,Boltshauser E,Talim B,Horvath R,Robinson PN,Lochmüller H,Hübner C,Mundlos S

更新日期：2006-08-01 00:00:00

abstract：:Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

journal_title：American journal of human genetics

authors： Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

更新日期：2012-01-13 00:00:00

abstract：:We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white popu...

journal_title：American journal of human genetics

authors： Duffy DL,Montgomery GW,Chen W,Zhao ZZ,Le L,James MR,Hayward NK,Martin NG,Sturm RA

更新日期：2007-02-01 00:00:00

abstract：:Tibetan high-altitude adaptation (HAA) has been studied extensively, and many candidate genes have been reported. Subsequent efforts targeting HAA functional variants, however, have not been that successful (e.g., no functional variant has been suggested for the top candidate HAA gene, EPAS1). With WinXPCNVer, a metho...

journal_title：American journal of human genetics

authors： Lou H,Lu Y,Lu D,Fu R,Wang X,Feng Q,Wu S,Yang Y,Li S,Kang L,Guan Y,Hoh BP,Chung YJ,Jin L,Su B,Xu S

更新日期：2015-07-02 00:00:00

abstract：:Recently, Schork et al. found that two-trait-locus, two-marker-locus (parametric) linkage analysis can provide substantially more linkage information than can standard one-trait-locus, one-marker-locus methods. However, because of the increased burden of computation, Schork et al. do not expect that their approach wil...

journal_title：American journal of human genetics

authors： Knapp M,Seuchter SA,Baur MP

更新日期：1994-11-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the...

journal_title：American journal of human genetics

authors： Lavedan C,Hofmann-Radvanyi H,Shelbourne P,Rabes JP,Duros C,Savoy D,Dehaupas I,Luce S,Johnson K,Junien C

更新日期：1993-05-01 00:00:00

abstract：:Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, ...

journal_title：American journal of human genetics

authors： Abouzeid H,Boisset G,Favez T,Youssef M,Marzouk I,Shakankiry N,Bayoumi N,Descombes P,Agosti C,Munier FL,Schorderet DF

更新日期：2011-01-07 00:00:00

abstract：:Secondary genomic findings are increasingly being returned to individuals as opportunistic screening results. A secondary finding offers the chance to identify and mitigate disease that may otherwise be unrecognized in an individual. As a form of screening, secondary findings must be considered differently from sequen...

journal_title：American journal of human genetics

authors： Katz AE,Nussbaum RL,Solomon BD,Rehm HL,Williams MS,Biesecker LG

更新日期：2020-07-02 00:00:00

abstract：:Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i) (i.e., no single tandem repeat predominates) have received little attention. The factor IX gene has a polymorphic cryptic RY...

journal_title：American journal of human genetics

authors： Jacobson DP,Schmeling P,Sommer SS

更新日期：1993-08-01 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：:Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. How...

journal_title：American journal of human genetics

authors： Zhao H,Li J,Robinson WP

更新日期：2000-10-01 00:00:00

abstract：:Many ion channel genes have been associated with human genetic pain disorders. Here we report two large Chinese families with autosomal-dominant episodic pain. We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause simila...

journal_title：American journal of human genetics

authors： Zhang XY,Wen J,Yang W,Wang C,Gao L,Zheng LH,Wang T,Ran K,Li Y,Li X,Xu M,Luo J,Feng S,Ma X,Ma H,Chai Z,Zhou Z,Yao J,Zhang X,Liu JY

更新日期：2013-11-07 00:00:00

abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

journal_title：American journal of human genetics

authors： Craig-Holmes AP,Moore FB,Shaw MW

更新日期：1975-03-01 00:00:00

abstract：:Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of ...

journal_title：American journal of human genetics

authors： Mulley JC,Kozman HM,Phillips HA,Gedeon AK,McCure JA,Iles DE,Gregg RG,Hogan K,Couch FJ,MacLennan DH

更新日期：1993-02-01 00:00:00

abstract：:The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod scor...

journal_title：American journal of human genetics

authors： Kondo I,Hamaguchi H

更新日期：1985-11-01 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：:Four subjects with thermolabile methylenetetrahydrofolate reductase (MTHFR) were discovered among 16 "obligate" heterozygotes for severe MTHFR deficiency and their family members. All four subjects had less than 25% of normal mean MTHFR specific activity in lymphocyte extracts. Three of them with normal serum folate a...

journal_title：American journal of human genetics

authors： Kang SS,Wong PW,Bock HG,Horwitz A,Grix A

更新日期：1991-03-01 00:00:00

abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

journal_title：American journal of human genetics

authors： Hodge SE,Boehnke M

更新日期：1986-08-01 00:00:00

abstract：:The distribution of HLA antigens in a sample of 124 Chagas serologically positive Chilean individuals was studied. The sample was subdivided according to the presence or absence of chagasic cardiomyopathy, in order to search for genetic differences associated with this pathological condition. The frequency of antigen ...

journal_title：American journal of human genetics

authors： Llop E,Rothhammer F,Acuña M,Apt W

更新日期：1988-11-01 00:00:00

abstract：:Genetic mapping of complex diseases to date depends on variations inside or close to the genes that perturb their activities. A strong body of evidence suggests that changes in gene expression play a key role in complex diseases and that numerous loci perturb gene expression in trans. The information in trans variants...

journal_title：American journal of human genetics

authors： He X,Fuller CK,Song Y,Meng Q,Zhang B,Yang X,Li H

更新日期：2013-05-02 00:00:00

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 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：:Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...

journal_title：American journal of human genetics

authors： Antonellis A,Ellsworth RE,Sambuughin N,Puls I,Abel A,Lee-Lin SQ,Jordanova A,Kremensky I,Christodoulou K,Middleton LT,Sivakumar K,Ionasescu V,Funalot B,Vance JM,Goldfarb LG,Fischbeck KH,Green ED

更新日期：2003-05-01 00:00:00

abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

journal_title：American journal of human genetics

authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

更新日期：1984-07-01 00:00:00

abstract：:Proteoglycans are a major component of extracellular matrix and contribute to normal embryonic and postnatal development by ensuring tissue stability and signaling functions. We studied five patients with recessive joint dislocations and congenital heart defects, including bicuspid aortic valve (BAV) and aortic root d...

journal_title：American journal of human genetics

authors： Baasanjav S,Al-Gazali L,Hashiguchi T,Mizumoto S,Fischer B,Horn D,Seelow D,Ali BR,Aziz SA,Langer R,Saleh AA,Becker C,Nürnberg G,Cantagrel V,Gleeson JG,Gomez D,Michel JB,Stricker S,Lindner TH,Nürnberg P,Sugahara K,

更新日期：2011-07-15 00:00:00