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：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

journal_title：American journal of human genetics

authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

更新日期：1996-09-01 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：: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：:Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletion...

journal_title：American journal of human genetics

authors： Fujita R,Bingham E,Forsythe P,McHenry C,Aita V,Navia BA,Dry K,Segal M,Devoto M,Bruns G,Wright AF,Ott J,Sieving PA,Swaroop A

更新日期：1996-07-01 00:00:00

abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

journal_title：American journal of human genetics

authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

更新日期：1996-07-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients with PMD, exonic mut...

journal_title：American journal of human genetics

authors： Inoue K,Osaka H,Sugiyama N,Kawanishi C,Onishi H,Nezu A,Kimura K,Yamada Y,Kosaka K

更新日期：1996-07-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder associated with impaired beta-oxidation of very-long-chain fatty acids (VLCFA), is due to mutations in a gene encoding a peroxisomal ATP-binding cassette (ABC) transporter (ALD protein [ALDP]). We analyzed the open reading frame of the ALD gene in 44 Fr...

journal_title：American journal of human genetics

authors： Feigenbaum V,Lombard-Platet G,Guidoux S,Sarde CO,Mandel JL,Aubourg P

更新日期：1996-06-01 00:00:00

abstract：:It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown ...

journal_title：American journal of human genetics

authors： Shashi V,Golden WL,Allinson PS,Blanton SH,von Kap-Herr C,Kelly TE

更新日期：1996-06-01 00:00:00

abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

journal_title：American journal of human genetics

authors： Sobel E,Lange K

更新日期：1996-06-01 00:00:00

abstract：:Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

journal_title：American journal of human genetics

authors： Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

更新日期：1996-05-01 00:00:00

abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

journal_title：American journal of human genetics

authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

更新日期：1996-04-01 00:00:00

abstract：:Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more res...

journal_title：American journal of human genetics

authors： Kaukonen JA,Amati P,Suomalainen A,Rötig A,Piscaglia MG,Salvi F,Weissenbach J,Fratta G,Comi G,Peltonen L,Zeviani M

更新日期：1996-04-01 00:00:00

abstract：:To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the dis...

journal_title：American journal of human genetics

authors： Génin E,Clerget-Darpoux F

更新日期：1996-04-01 00:00:00

abstract：:Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the haplotype analysis of...

journal_title：American journal of human genetics

authors： Varilo T,Savukoski M,Norio R,Santavuori P,Peltonen L,Järvelä I

更新日期：1996-03-01 00:00:00

abstract：:We have developed a technique called "LSSP-PCR" (low-stringency single specific primer PCR) that detects single or multiple mutations in DNA. A purified DNA fragment is submitted to PCR by using a single primer specific for one of the extremities of the fragment, under conditions of very low stringency. The primer hyb...

journal_title：American journal of human genetics

authors： Barreto G,Vago AR,Ginther C,Simpson AJ,Pena SD

更新日期：1996-03-01 00:00:00

abstract：:The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13. Paternal only expression of SNRPN has previously been demonst...

journal_title：American journal of human genetics

authors： Glenn CC,Saitoh S,Jong MT,Filbrandt MM,Surti U,Driscoll DJ,Nicholls RD

更新日期：1996-02-01 00:00:00

abstract：:Six closely linked PRP (proline-rich protein) genes code for many salivary PRPs that show frequent length and null variants. From determined protein sequences and DNA sequence analysis of variant alleles, we here report the coding and molecular basis for Con (concanavalin A-binding) and Po (parotid "o") protein polymo...

journal_title：American journal of human genetics

authors： Azen EA,Amberger E,Fisher S,Prakobphol A,Niece RL

更新日期：1996-01-01 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：:We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to...

journal_title：American journal of human genetics

authors： Figus A,Angius A,Loudianos G,Bertini C,Dessi V,Loi A,Deiana M,Lovicu M,Olla N,Sole G

更新日期：1995-12-01 00:00:00

abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

journal_title：American journal of human genetics

authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

更新日期：1995-12-01 00:00:00

abstract：:Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...

journal_title：American journal of human genetics

authors： Ellis NA,Lennon DJ,Proytcheva M,Alhadeff B,Henderson EE,German J

更新日期：1995-11-01 00:00:00

abstract：:Inhibition of replicative DNA synthesis following gamma-irradiation is observed in eukaryotic cells but is defective in cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) and in A-T-like Chinese hamster cell mutants. Chinese hamster cells show a less pronounced inhibition ...

journal_title：American journal of human genetics

authors： Verhaegh GW,Jongmans W,Jaspers NG,Natarajan AT,Oshimura M,Lohman PH,Zdzienicka MZ

更新日期：1995-11-01 00:00:00

abstract：:In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

journal_title：American journal of human genetics

authors： Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

更新日期：1995-11-01 00:00:00

abstract：:The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with tho...

journal_title：American journal of human genetics

authors： Cancel G,Abbas N,Stevanin G,Dürr A,Chneiweiss H,Néri C,Duyckaerts C,Penet C,Cann HM,Agid Y

更新日期：1995-10-01 00:00:00

abstract：:New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in liver were not performed on most of these pati...

journal_title：American journal of human genetics

authors： Mudd SH,Levy HL,Tangerman A,Boujet C,Buist N,Davidson-Mundt A,Hudgins L,Oyanagi K,Nagao M,Wilson WG

更新日期：1995-10-01 00:00:00

abstract：:To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branches, indicating grea...

journal_title：American journal of human genetics

authors： Jorde LB,Bamshad MJ,Watkins WS,Zenger R,Fraley AE,Krakowiak PA,Carpenter KD,Soodyall H,Jenkins T,Rogers AR

更新日期：1995-09-01 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：:Misspecification of transmission model parameters can produce artifactually negative lod scores at small recombination fractions and in multipoint analysis. To avoid this problem, we have tried to devise a test that aims to detect a genetic effect at a particular locus, rather than attempting to estimate the map posit...

journal_title：American journal of human genetics

authors： Curtis D,Sham PC

更新日期：1995-09-01 00:00:00

abstract：:The first hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytosines between nt 16184 and 16193, interrupted at position 16189 by a thymine, according to the Cambridge reference sequence. A variant commonly found in population screening is a T-to-C transition at nt 16189, resul...

journal_title：American journal of human genetics

authors： Bendall KE,Sykes BC

更新日期：1995-08-01 00:00:00

abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

journal_title：American journal of human genetics

authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

更新日期：1995-08-01 00:00:00

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：:Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies....

journal_title：American journal of human genetics

authors： Samson F,Mesnard L,Heimburger M,Hanauer A,Chevallay M,Mercadier JJ,Pelissier JF,Feingold N,Junien C,Mandel JL

更新日期：1995-07-01 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：:One widely used measure of genetic similarity for pairs of relatives is gene identity-by-descent (IBD) sharing. Genes that are copies of a single gene in a common ancestor of the individuals who now carry them are said to be IBD. One obvious extension of the IBD concept is IBD gene(s) shared by more than two individua...

journal_title：American journal of human genetics

authors： Guo SW

更新日期：1995-06-01 00:00:00

abstract：:Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of ...

journal_title：American journal of human genetics

authors： Rave-Harel N,Madgar I,Goshen R,Nissim-Rafinia M,Ziadni A,Rahat A,Chiba O,Kalman YM,Brautbar C,Levinson D

更新日期：1995-06-01 00:00:00

abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

journal_title：American journal of human genetics

authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

更新日期：1995-06-01 00:00:00

abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

journal_title：American journal of human genetics

authors： Goldman A,Ramsay M,Jenkins T

更新日期：1995-06-01 00:00:00

abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...

journal_title：American journal of human genetics

authors： Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa T

更新日期：1995-05-01 00:00:00

abstract：:A survey of Wilson disease in Iceland has revealed two large kindreds with affected individuals. We have carried out studies of haplotypes of dinucleotide repeat polymorphisms (CA repeats) flanking the Wilson disease gene. The same mutation, a 7-bp deletion, is present in both families, and the clinical features are s...

journal_title：American journal of human genetics

authors： Thomas GR,Jensson O,Gudmundsson G,Thorsteinsson L,Cox DW

更新日期：1995-05-01 00:00:00