abstract：:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those ...

journal_title：American journal of human genetics

authors： Fulker DW,Cherny SS,Cardon LR

更新日期：1995-05-01 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：:Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter...

journal_title：American journal of human genetics

authors： Cook EH Jr,Stein MA,Krasowski MD,Cox NJ,Olkon DM,Kieffer JE,Leventhal BL

更新日期：1995-04-01 00:00:00

abstract：:The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue de...

journal_title：American journal of human genetics

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

更新日期：1995-03-01 00:00:00

abstract：:mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splice site in intron 11. S...

journal_title：American journal of human genetics

authors： Chillón M,Dörk T,Casals T,Giménez J,Fonknechten N,Will K,Ramos D,Nunes V,Estivill X

更新日期：1995-03-01 00:00:00

abstract：:The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous rel...

journal_title：American journal of human genetics

authors： Taschner PE,de Vos N,Thompson AD,Callen DF,Doggett N,Mole SE,Dooley TP,Barth PG,Breuning MH

更新日期：1995-03-01 00:00:00

abstract：:The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations ...

journal_title：American journal of human genetics

authors： Bennett RL,Steinhaus KA,Uhrich SB,O'Sullivan CK,Resta RG,Lochner-Doyle D,Markel DS,Vincent V,Hamanishi J

更新日期：1995-03-01 00:00:00

abstract：:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenit...

journal_title：American journal of human genetics

authors： Elbaz A,Vale-Santos J,Jurkat-Rott K,Lapie P,Ophoff RA,Bady B,Links TP,Piussan C,Vila A,Monnier N

更新日期：1995-02-01 00:00:00

abstract：:Cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) show an abnormal response to ionizing radiation-induced DNA damage, such as an increased cell killing and a diminished inhibition of DNA synthesis. The enhanced killing of A-T (group D) cells by X-rays can be corrected by ...

journal_title：American journal of human genetics

authors： Jongmans W,Verhaegh GW,Jaspers NG,Oshimura M,Stanbridge EJ,Lohman PH,Zdzienicka MZ

更新日期：1995-02-01 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：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

journal_title：American journal of human genetics

authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

更新日期：1995-01-01 00:00:00

abstract：:In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, west...

journal_title：American journal of human genetics

authors： Rootwelt H,Brodtkorb E,Kvittingen EA

更新日期：1994-12-01 00:00:00

abstract：:The locus for Saethre-Chotzen syndrome, a common autosomal dominant disorder of craniosynostosis and digital anomalies, was previously mapped to chromosome 7p between D7S513 and D7S516. We used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage ...

journal_title：American journal of human genetics

authors： Lewanda AF,Green ED,Weissenbach J,Jerald H,Taylor E,Summar ML,Phillips JA 3rd,Cohen M,Feingold M,Mouradian W

更新日期：1994-12-01 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：: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：:Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In ...

journal_title：American journal of human genetics

authors： Shaffer LG,McCaskill C,Han JY,Choo KH,Cutillo DM,Donnenfeld AE,Weiss L,Van Dyke DL

更新日期：1994-11-01 00:00:00

abstract：:We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) o...

journal_title：American journal of human genetics

authors： Tambor ES,Bernhardt BA,Chase GA,Faden RR,Geller G,Hofman KJ,Holtzman NA

更新日期：1994-10-01 00:00:00

abstract：:Linkage of Alzheimer disease (AD) to DNA markers on chromosomes 14, 19, and 21 was studied in 10 families in which the disease was apparently inherited as an autosomal dominant trait. Families were derived from a Dutch population-based epidemiologic study of early-onset AD. Although in all probands the onset of AD was...

journal_title：American journal of human genetics

authors： van Duijn CM,Hendriks L,Farrer LA,Backhovens H,Cruts M,Wehnert A,Hofman A,Van Broeckhoven C

更新日期：1994-10-01 00:00:00

abstract：:Determining the mode of inheritance is often difficult under the best of circumstances, but when segregation analysis is used, the problems of ambiguous ascertainment procedures, reduced penetrance, heterogeneity, and misdiagnosis make mode-of-inheritance determinations even more unreliable. The mode of inheritance ca...

journal_title：American journal of human genetics

authors： Greenberg DA,Berger B

更新日期：1994-10-01 00:00:00

abstract：:The 5' flanking polymorphism (5'FP), a hypervariable region at the 5' end of the insulin gene, has "class 1" alleles (650-900 bp long) that are in positive linkage disequilibrium with insulin-dependent diabetes mellitus (IDDM). We report that precise sizing of the 5'FP yields a bimodal frequency distribution of class ...

journal_title：American journal of human genetics

authors： McGinnis RE,Spielman RS

更新日期：1994-09-01 00:00:00

abstract：:Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent ma...

journal_title：American journal of human genetics

authors： Kramer PL,Heiman GA,Gasser T,Ozelius LJ,de Leon D,Brin MF,Burke RE,Hewett J,Hunt AL,Moskowitz C

更新日期：1994-09-01 00:00:00

abstract：:Human neuroblastoma cells often are monosomic for the distal portion of 1p (1p36). We report that the deleted 1p material in cells of neuroblastoma lines is preferentially replaced by material from chromosome 17, resulting from an unbalanced 1;17 translocation. Chromosome 17 often acquires instability, followed by the...

journal_title：American journal of human genetics

authors： Savelyeva L,Corvi R,Schwab M

更新日期：1994-08-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...

journal_title：American journal of human genetics

authors： MacCollin M,Ramesh V,Jacoby LB,Louis DN,Rubio MP,Pulaski K,Trofatter JA,Short MP,Bove C,Eldridge R

更新日期：1994-08-01 00:00:00

abstract：:Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syn...

journal_title：American journal of human genetics

authors： Woodage T,Prasad M,Dixon JW,Selby RE,Romain DR,Columbano-Green LM,Graham D,Rogan PK,Seip JR,Smith A

更新日期：1994-07-01 00:00:00

abstract：:Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locu...

journal_title：American journal of human genetics

authors： Scherer SW,Poorkaj P,Allen T,Kim J,Geshuri D,Nunes M,Soder S,Stephens K,Pagon RA,Patton MA

更新日期：1994-07-01 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：: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：:In the present work, we demonstrate the possibility of using human blood platelets as mitochondrial donors for the repopulation of mtDNA-less (rho 0) cells. The noninvasive nature of platelet isolation, combined with the prolonged viability of platelet mitochondria and the simplicity and efficiency of the mitochondria...

journal_title：American journal of human genetics

authors： Chomyn A,Lai ST,Shakeley R,Bresolin N,Scarlato G,Attardi G

更新日期：1994-06-01 00:00:00

abstract：:Most sporadic cases of retinoblastoma, malignant eye tumor of children, may require the identification of a mutation of the retinoblastoma gene (RB1 gene) for precise genetic counseling. We established a mutation detection system of and screened for the RB1 gene mutation in 24 patients with retinoblastoma--12 bilatera...

journal_title：American journal of human genetics

authors： Shimizu T,Toguchida J,Kato MV,Kaneko A,Ishizaki K,Sasaki MS

更新日期：1994-05-01 00:00:00

abstract：:Genetic risks are usually computed under the assumption that genetic parameters, such as the recombination fraction, are known without error. Uncertainty in the estimates of these parameters must translate into uncertainty regarding the risk. To allow for uncertainties in parameter values, one may employ Bayesian tech...

journal_title：American journal of human genetics

authors： Leal SM,Ott J

更新日期：1994-05-01 00:00:00

abstract：:The chromosome 19 apolipoprotein E/CI/CII gene cluster was examined for evidence of linkage to a familial Alzheimer disease (FAD) locus. The family groups studied were Volga German (VG), early-onset non-VG (ENVG; mean age at onset < 60 years), and late-onset families. A genetic association was observed between apolipo...

journal_title：American journal of human genetics

authors： Yu CE,Payami H,Olson JM,Boehnke M,Wijsman EM,Orr HT,Kukull WA,Goddard KA,Nemens E,White JA

更新日期：1994-04-01 00:00:00

abstract：:Independent replication of linkage in previously studied pedigrees is desirable when genetic heterogeneity is suspected or when the illness is very rare. When the likelihood of the new data in this type of replication study is computed as conditional on the previously reported linkage results, it can be considered ind...

journal_title：American journal of human genetics

authors： Gershon ES,Goldin LR

更新日期：1994-04-01 00:00:00

abstract：:The PCR technique was used to analyze the DXYS17 locus in the pseudoautosomal region of the X and the Y chromosomes. Analysis on an automated DNA sequencer allowed for sensitive and highly accurate typing of 16 different alleles with a size between 480 and 1,100 bp. Two DXYS17 alleles migrated with the same size on ag...

journal_title：American journal of human genetics

authors： Decorte R,Wu R,Marynen P,Cassiman JJ

更新日期：1994-03-01 00:00:00

abstract：:X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with...

journal_title：American journal of human genetics

authors： Strain L,Gosden CM,Brock DJ,Bonthron DT

更新日期：1994-02-01 00:00:00

abstract：:To quantify the effect of the apolipoprotein (apo) E polymorphism on the magnitude of postprandial lipemia, we have defined its role in determining the response to a single high-fat meal in a large sample of (N = 474) individuals taking part in the biethnic Atherosclerosis Risk in Communities Study. The profile of pos...

journal_title：American journal of human genetics

authors： Boerwinkle E,Brown S,Sharrett AR,Heiss G,Patsch W

更新日期：1994-02-01 00:00:00

abstract：:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage an...

journal_title：American journal of human genetics

authors： Stevanin G,Le Guern E,Ravisé N,Chneiweiss H,Dürr A,Cancel G,Vignal A,Boch AL,Ruberg M,Penet C

更新日期：1994-01-01 00:00:00

abstract：:The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with ...

journal_title：American journal of human genetics

authors： Hagiwara Y,Nishio H,Kitoh Y,Takeshima Y,Narita N,Wada H,Yokoyama M,Nakamura H,Matsuo M

更新日期：1994-01-01 00:00:00

abstract：:The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14. Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC. Two-point linkage analysis demonstrated close link...

journal_title：American journal of human genetics

authors： Oehlmann R,Zlotogora J,Wenger DA,Knowlton RG

更新日期：1993-12-01 00:00:00

abstract：:Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the thr...

journal_title：American journal of human genetics

authors： Brandi ML,Weber G,Svensson A,Falchetti A,Tonelli F,Castello R,Furlani L,Scappaticci S,Fraccaro M,Larsson C

更新日期：1993-12-01 00:00:00

abstract：:VNTR fragment lengths in three databases maintained by the FBI for forensic purposes were partitioned into quantile bins, and tests for independence of the two bins at each of six loci were conducted. Whether independence was declared depended on the number of quantiles used. For a large number of quantile bins, equal...

journal_title：American journal of human genetics

authors： Weir BS

更新日期：1993-11-01 00:00:00