Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

journal_title：American journal of human genetics

authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

更新日期：2000-06-01 00:00:00

abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...

journal_title：American journal of human genetics

authors： White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

更新日期：1999-08-01 00:00:00

abstract：:Genome-wide association studies are routinely conducted to identify genetic variants that influence complex disorders. It is well known that failure to properly account for population or pedigree structure can lead to spurious association as well as reduced power. We propose a method, ROADTRIPS, for case-control assoc...

journal_title：American journal of human genetics

authors： Thornton T,McPeek MS

更新日期：2010-02-12 00:00:00

abstract：:Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessar...

journal_title：American journal of human genetics

authors： Cazeneuve C,Sarkisian T,Pêcheux C,Dervichian M,Nédelec B,Reinert P,Ayvazyan A,Kouyoumdjian JC,Ajrapetyan H,Delpech M,Goossens M,Dodé C,Grateau G,Amselem S

更新日期：1999-07-01 00:00:00

abstract：:We tested 519 chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restric...

journal_title：American journal of human genetics

authors： Golembieski WA,Smith SE,Recchia F,Judge A,Shridhar V,Miller OJ,Drabkin H,Smith DI

更新日期：1991-09-01 00:00:00

abstract：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...

journal_title：American journal of human genetics

authors： Wong FL,Cantor RM,Rotter JI

更新日期：1986-07-01 00:00:00

abstract：:DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patel...

journal_title：American journal of human genetics

authors： Fenwick AL,Kliszczak M,Cooper F,Murray J,Sanchez-Pulido L,Twigg SR,Goriely A,McGowan SJ,Miller KA,Taylor IB,Logan C,WGS500 Consortium.,Bozdogan S,Danda S,Dixon J,Elsayed SM,Elsobky E,Gardham A,Hoffer MJ,Koopmans M,

更新日期：2016-07-07 00:00:00

abstract：:Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...

journal_title：American journal of human genetics

authors： McEntagart M,Norton N,Williams H,Teare MD,Dunstan M,Baker P,Houlden H,Reilly M,Wood N,Harper PS,Futreal PA,Williams N,Rahman N

更新日期：2001-05-01 00:00:00

abstract：:About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

journal_title：American journal of human genetics

authors： Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

更新日期：1996-10-01 00:00:00

abstract：:A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. I...

journal_title：American journal of human genetics

authors： Tajima Y,Kawashima I,Tsukimura T,Sugawara K,Kuroda M,Suzuki T,Togawa T,Chiba Y,Jigami Y,Ohno K,Fukushige T,Kanekura T,Itoh K,Ohashi T,Sakuraba H

更新日期：2009-11-01 00:00:00

abstract：:We conducted a genomewide linkage screen of a simple heavy-smoking quantitative trait, the maximum number of cigarettes smoked in a 24-h period, using two independent samples: 289 Australian and 155 Finnish nuclear multiplex families, all of which were of European ancestry and were targeted for DNA analysis by use of ...

journal_title：American journal of human genetics

authors： Saccone SF,Pergadia ML,Loukola A,Broms U,Montgomery GW,Wang JC,Agrawal A,Dick DM,Heath AC,Todorov AA,Maunu H,Heikkila K,Morley KI,Rice JP,Todd RD,Kaprio J,Peltonen L,Martin NG,Goate AM,Madden PA

更新日期：2007-05-01 00:00:00

abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

journal_title：American journal of human genetics

authors： Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

更新日期：1987-10-01 00:00:00

abstract：:The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilib...

journal_title：American journal of human genetics

authors： Sutherland GR

更新日期：1982-09-01 00:00:00

abstract：:Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. ...

journal_title：American journal of human genetics

authors： Rahimi AG,Goedde HW,Flatz G,Kaifie S,Benkmann HG,Delbrück H

更新日期：1977-07-01 00:00:00

abstract：:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb ...

journal_title：American journal of human genetics

authors： Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

更新日期：2000-01-01 00:00:00

abstract：:The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was studied by high-resolution RFLP analysis and sequencing of the control region. Phylogenetic analyses of haplotypes and detailed survey of population controls reveal...

journal_title：American journal of human genetics

authors： Torroni A,Cruciani F,Rengo C,Sellitto D,López-Bigas N,Rabionet R,Govea N,López De Munain A,Sarduy M,Romero L,Villamar M,del Castillo I,Moreno F,Estivill X,Scozzari R

更新日期：1999-11-01 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：:The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapping developmental anomalies, and who all have de novo missense FBXW11...

journal_title：American journal of human genetics

authors： Holt RJ,Young RM,Crespo B,Ceroni F,Curry CJ,Bellacchio E,Bax DA,Ciolfi A,Simon M,Fagerberg CR,van Binsbergen E,De Luca A,Memo L,Dobyns WB,Mohammed AA,Clokie SJH,Zazo Seco C,Jiang YH,Sørensen KP,Andersen H,Sullivan

更新日期：2019-09-05 00:00:00

abstract：:Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidos...

journal_title：American journal of human genetics

authors： Jacobson DR,Reveille JD,Buxbaum JN

更新日期：1991-07-01 00:00:00

abstract：:In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...

journal_title：American journal of human genetics

authors： Kong A,Frigge M,Irwin M,Cox N

更新日期：1992-12-01 00:00:00

abstract：:The rough draft of the human genome map has been used to identify most of the functional genes in the human genome, as well as to identify nucleotide variations, known as "single-nucleotide polymorphisms" (SNPs), in these genes. By use of advanced biotechnologies, researchers are beginning to genotype thousands of SNP...

journal_title：American journal of human genetics

authors： Zhao LP,Li SS,Khalid N

更新日期：2003-05-01 00:00:00

abstract：:To resolve uncertainty concerning the inheritance of the perinatal lethal form of osteogenesis imperfecta (OI type II), we collected family data and radiographs for 71 probands and analyzed the collagens synthesized by dermal fibroblastic cells cultured from 43 of the probands, 19 parental pairs, and single parents of...

journal_title：American journal of human genetics

authors： Byers PH,Tsipouras P,Bonadio JF,Starman BJ,Schwartz RC

更新日期：1988-02-01 00:00:00

abstract：:The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four polymorphic variants corresponding to silent mutations not associated with the disease phenotype were observed. Mutations...

journal_title：American journal of human genetics

authors： Olschwang S,Laurent-Puig P,Groden J,White R,Thomas G

更新日期：1993-02-01 00:00:00

abstract：:Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mut...

journal_title：American journal of human genetics

authors： Cullinane AR,Curry JA,Carmona-Rivera C,Summers CG,Ciccone C,Cardillo ND,Dorward H,Hess RA,White JG,Adams D,Huizing M,Gahl WA

更新日期：2011-06-10 00:00:00

abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

journal_title：American journal of human genetics

authors： Kammerer CM,MacCluer JW,Bridges JM

更新日期：1984-01-01 00:00:00

abstract：:Heteroplasmy, the existence of multiple mtDNA types within an individual, has been previously detected by using mostly indirect methods and focusing largely on just the hypervariable segments of the control region. Next-generation sequencing technologies should enable studies of heteroplasmy across the entire mtDNA ge...

journal_title：American journal of human genetics

authors： Li M,Schönberg A,Schaefer M,Schroeder R,Nasidze I,Stoneking M

更新日期：2010-08-13 00:00:00

abstract：:Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

journal_title：American journal of human genetics

authors： Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

更新日期：2001-01-01 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：:Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Three unrelated PH1 patients, who possess a novel complex phenotype, are described. At the enzymological level, this phenotype is character...

journal_title：American journal of human genetics

authors： Danpure CJ,Purdue PE,Fryer P,Griffiths S,Allsop J,Lumb MJ,Guttridge KM,Jennings PR,Scheinman JI,Mauer SM

更新日期：1993-08-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United States. The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 familie...

journal_title：American journal of human genetics

authors： Jawaheer D,Seldin MF,Amos CI,Chen WV,Shigeta R,Monteiro J,Kern M,Criswell LA,Albani S,Nelson JL,Clegg DO,Pope R,Schroeder HW Jr,Bridges SL Jr,Pisetsky DS,Ward R,Kastner DL,Wilder RL,Pincus T,Callahan LF,Flemming D

更新日期：2001-04-01 00:00:00