bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exclusion of linkage between alcoholism and the MNS blood group region on chromosome 4q in multiplex families
Authors: Neiswanger Katherine , Kaplan Barry , Hill Shirley Y. 
Published: June 2005

AbstractPolymorphic DNA markers on the long arm of chromosome 4 were used to examine linkage to alcoholism in 20 multiplex pedigrees. Fifteen loci were determined for 124 individuals. Lod scores were calculated assuming both dominant and recessive disease modes of inheritance, utilizing incidence data by age and gender that allow for correction for variable age of onset and frequency of the disorder by gender. Under the assumption that alcoholism is homogeneous in this set of pedigrees, and that a recessive mode with age and gender correction is the most appropriate, the total lod scores for all families combined were uniformly lower than −2.0. This suggests an absence of linkage between the putative alcoholism susceptibility gene and markers in the region of the MNS blood group (4q28—31), a region for which we had previously found suggestive evidence of linkage to alcoholism. The 100 cM span of chromosome 4 studied includes the class I alcohol dehydrogenase (ADH) loci. Using the recessive mode, no evidence for linkage to alcoholism was found for the markers tested, which spanned almost the entire long arm of chromosome 4. Under the dominant mode, no evidence for linkage could be found for several of the markers. © 1995 Wiley‐Liss, Inc.
Lafora disease is not linked to the Unverricht‐Lundborg locus
Authors: Labauge Pierre , Beck Corrine , Bellet Hélène , Coquillat Georges , Vespignani Hervé , Dulac Olivier , Gilgenkrantz Simone , Dravet Charlotte , Genton Pierre , Pellissier Jean‐François , Chery Michèle , Baldy‐Moulinier Michel , Malafosse Alain 
Published: June 2005

AbstractLafora disease and Unverricht‐Lundborg disease are two forms of progressive myoclonus epilepsies (PME). Recently the gene for Unverricht‐Lundborg disease (EPM1) was mapped to chromosome 21q22.3. Using three highly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank the EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease. Linkage was excluded in three North‐African pedigrees each comprising at least two affected individuals. This result suggests that differential diagnosis of Lafora disease and Unverricht‐Lundborg disease may be facilitated by molecular genetic analysis. © 1995 Wiley‐Liss, Inc.
Allelic association at the D14S43 locus in early onset Alzheimer's disease
Authors: Brice Alexis , Tardieu Sandrine , Campion Dominique , Guern Eric Le , Martinez Maria , Carpentier Alexandre , Penet Christiane , Dubois Bruno , Bellis Michel , Mallet Jacques , Hannequin Didier , Clerget‐Darpoux Françoise , Agid Yves 
Published: June 2005

AbstractThe D14S43 marker is closely linked to the major gene for early onset autosomal dominant Alzheimer's disease on chromosome 14. Allelic frequencies at the D14S43 locus were compared in 113 familial and isolated cases of early onset Alzheimer's disease (<60 years of age at onset) (EOAD) and 109 unaffected individuals of the same geographic origin. Allele 7 was significantly (P = 0.033) more frequent in type 1 EOAD patients (13.2%), defined by the presence of at least another first degree relative with EOAD, than in controls (4.1%). Since an autosomal dominant gene is probably responsible for type 1 patients, allelic association may reflect linkage disequilibrium at the D14S43 locus. This would mean that some patients share a common ancestral mutation. However, since multiple tests were carried out, this result must be interpreted with caution, and needs confirmation in an independent sample. © 1995 Wiley‐Liss, Inc.
Preliminary evidence for an association of a dinucleotide repeat polymorphism at the MAOA gene with early onset alcoholism/substance abuse
Authors: Vanyukov Michael M. , Moss Howard B. , Yu Ling Mei , Tarter Ralph E. , Deka Ranjan 
Published: June 2005

AbstractAn association between the liability to early onset alcoholism/substance abuse and a recently discovered dinucleotide repeat length polymorphism at the MAOA gene (MAOCA‐1) was examined using polymerase chain reaction (PCR). A significant correlation between the presence/absence of the disorder and the length of the MAOCA‐1 repeat was found in males, but not females, with “long” alleles (repeat length above 115 bp) associated with both increased risk for the disorder and lower age of onset of substance abuse. These preliminary data suggest that further exploration of the relationship between the MAOA gene and behavioral traits in an expanded sample is warranted. © 1995 Wiley‐Liss, Inc.
Two single base polymorphisms in introns 41 and 16 of the NF1 gene
Authors: Shen Ming Hong , Upadhyaya Meena 
Published: June 2005

AbstractWe have characterized two intragenic polymorphisms in the neurofibromatosis type 1 (NF1) gene by direct sequencing of PCR products. The variants for these polymorphisms were initially detected on Hydrolink gels. One of the polymorphisms involves a G to A transition in intron 41 at the 28th base upstream of exon 42 with an observed ‘G’/‘A’ heterozygosity of 0.42. The other polymorphism is a T to C transition in intron 16 at the 16th base upstream of exon 17 with an observed ‘T’/‘C’ heterozygosity of 0.09. In combination with other documented polymorphisms in the NF1 gene, these variants should assist in genetic analysis of NF1 families. © 1995 Wiley‐Liss, Inc.
Schizophrenia: Gender, family risk, and plasma homovanillic acid
Authors: Dávila Ricardo , Zumárraga Mercedes , González‐Torres Miguel A. , Andía Isabel , Zamalloa Maria I. , Basterreche Edurne , Guimón José , Friedhoff Arnold J. 
Published: June 2005

AbstractPlasma homovanillic acid concentration was assessed in 60 young schizophrenic patients, with and without first‐degree relatives with schizophrenia, before treatment, and 3 days after starting haloperidol treatment. The baseline concentration of homovanillic acid in plasma was no different in the two groups before treatment; it was, however, significantly higher in the patients with relatives than in those without relatives diagnosed of schizophrenia after 3 days of haloperidol treatment. © 1995 Wiley‐Liss, Inc.
Automated linkage analysis in psychiatric disorders
Authors: He L. , Mansfield D. C. , Brown A. F. , Green D. K. , Morris S. W. , St. Clair D. M. , Muir W. J. , Maclean A. , Wright A. F. , Blackwood D. H. R. 
Published: June 2005

AbstractA genome‐wide search for linkage of micro‐satellite markers to chromosomal loci containing genes responsible for the major psychoses is a laborious task which can be carried out with greater speed and economy by introducing automation to several steps in the procedure.We describe the use of the Automated Linkage Preprocessor (ALP) program for the computer analysis of the waveform generated by fluorescein‐labelled markers after electrophoretic separation. (To obtain a copy send a request to A.F. Brown at the below MRC address or use Anonymous FTP to ftp.hgu.mrc.ac.uk. Software is in directory pub/ALP.) The program runs on a PC in the Microsoft Windows environment, and is used in conjunction with an automated laser fluorescence (ALF) sequencer (Pharmacia) and its Fragment Manager™ software to detect and size the PCR products, filter out peaks of fluorescence due to nonallele fragments, and generate genotypes in a format suitable for direct input to standard linkage analysis programs.The method should offer the advantages of speed, accuracy, and reduced cost. Its use in linkage studies in a large family with manic‐depressive illness is discussed. © 1995 Wiley‐Liss, Inc.
DRD4 dopamine receptor genotype and CSF monoamine metabolites in Finnish alcoholics and controls
Authors: Adamson M. D. , Kennedy J. , Petronis A. , Dean M. , Virkkunen M. , Linnoila M. , Goldman D. 
Published: June 2005

AbstractThe DRD4 dopamine receptor is thus far unique among neurotransmitter receptors in having a highly polymorphic gene structure that has been reported to produce altered receptor functioning. These allelic variations are caused by a 48‐bp segment in exon III of the coding region which may be repeated from 2–10 times. Varying the numbers of repeated segments changes the length, structure, and, possibly, the functional efficiency of the receptor, which makes this gene an intriguing candidate for variations in dopamine‐related behaviors, such as alcoholism and drug abuse. Thus far, these DRD4 alleles have been investigated for association with schizophrenia, bipolar disorder, Parkinson's disease, and chronic alcoholism, and all have been largely negative for a direct association.We evaluated the DRD4 genotype in 226 Finish adult males, 113 of whom were alcoholics, many of the early onset type with features of impulsivity and antisocial traits. Genotype frequencies were compared to 113 Finnish controls who were free of alcohol abuse, substance abuse, and major mental illness. In 70 alcoholics and 20 controls, we measured CSF homovanillic acid (HVA), the major metabolite of dopamine, and 5‐hydroxyindoleacetic acid (5‐HIAA). No association was found between a particular DRD4 dopamine receptor allele and alcoholism. CSF concentrations of the monoamine metabolites showed no significant difference among the DRD4 genotypes.This study of the DRD4 dopamine receptor in alcoholics is the first to be conducted in a clinically and ethnically homogeneous population and to relate the DRD4 genotype to CSF monoamine concentrations. The results indicate that there is no association of the DRD4 receptor with alcoholism. © 1995 Wiley‐Liss, Inc.
Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency
Authors: Mattson Lisa R. , Lindor Noralane M. , Goldman Deborah H. , Goodwin Jeffrey T. , Groover Robert V. , Vockley Jerry 
Published: June 2005

AbstractCentral pontine myelinolysis (CPM) is a demyelinating condition of the central pons with or without associated foci of demyelination in extrapontine areas. We present a case of partial ornithine carbamoyl transferase deficiency in a 5‐year‐old girl which was complicated by CPM. The patient was a previously undiagnosed girl who presented with mild hyperammonemic encephalopathy with a maximum plasma ammonia level of 376 μM on admission. Laboratory testing established the diagnosis of OCT deficiency, and therapy with hydration and protein restriction was successful in returning the plasma ammonia levels to normal. Five days after correction of her hyperammonemia, the patient developed intractable seizures and coma. Serial MRI scans of the brain revealed the evolution of the characteristic findings of CPM. Plasma ammonia and electrolyte concentrations were well controlled throughout this time. This represents the first description of CPM in a patient with a urea cycle defect. © 1995 Wiley‐Liss, Inc.
Characteristics of familial aggregation in early‐onset Alzheimer's disease: Evidence of subgroups
Authors: Campion D. , Martinez M. , Hannequin D. , Brice A. , Thomas‐Anterion C. , Michon A. , Babron M. C. , Dubois B. , Goas Y. , Jaillard‐Serradt A. , Ledoze F. , Pasquier F. , Puel M. , Zimmerman M. A. , Bellis M. , Mallet J. , Agid Y. , Clerget‐Darpoux F. 
Published: June 2005

AbstractCharacteristics of familial aggregation of Alzheimer's Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrant by age 90 years, is segregating within all these pedigrees.Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early‐onset Alzheimer's disease. © 1995 Wiley‐Liss, Inc.
Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: Construction of a laser microdissection library
Authors: Upadhyaya M. , Osborn M. , Maynard J. , Altherr M. , Ikeda J. , Harper P. S. 
Published: June 2005

AbstractFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal‐dominant disorder which has been mapped to the 4q35 region. In order to saturate this distal 4q region with DNA markers, a laser‐based chromosomal microdissection and microcloning procedure was used to construct a genomic library from the distal 20% of chromosome 4, derived from a single human metaphase spread.Of the 100 microclones analyzed from this library, 94 clones contained inserts sized from 80–800 bp, with an average size of 340 bp. Less than 20% of these clones hybridized to human repeat sequences. Seventy‐two single‐copy clones were further characterized by Southern blot hybridization against a DNA panel of somatic cell hybrids, containing various regions of chromosome 4. Forty‐two clones mapped to chromosome 4, of which 8 clones mapped into the relevant 4q35 region. Twenty of these chromosome 4‐specific clones were screened against “zoo‐blots”; 11 clones, of which 3 mapped to 4q35, identified conserved sequences.This is the first report to describe the isolation of potential expressed sequences derived from the FSHD region. These chromosome region‐specific microclones will be useful in the construction of the physical map of the region, the positional cloning of potential disease‐associated genes, and the identification of additional polymorphic markers from within the distal 4q region. © 1995 Wiley‐Liss, Inc.
Complex segregation analyses of Old Order Amish families ascertained through bipolar i individuals
Authors: Pauls David L. , Bailey Julia N. , Carter Alice S. , Allen Cleona R. , Egeland Janice A. 
Published: June 2005

AbstractSpecific genetic hypotheses about the mode of transmission of bipolar affective disorders were examined by performing complex segregation analyses of Old Order Amish families. The analyses were performed on (1) the total set of 42 families including 689 relatives, 2) a subset of 19 families consisting of those kindreds sharing common ancestors within three generations that contained 333 relatives, and 3) a subset of 23 more distantly related families with 356 relatives. When all 42 families were included in the analyses, the specific mode of transmission that could be distinguished was dependent upon the diagnostic scheme used in the analysis. An autosomal dominant mode of inheritance could be rejected when relatives with bipolar I, atypical bipolar, major depressive disorder, and hypomania were included as affected. When analyses included only the subset of families more closely related, an autosomal dominant inheritance model was found to be consistent with transmission of BP I disorder. It was not possible to distinguish between other transmission models with broader diagnostic schemes in this subset of families. Finally, results of analyses on the subset of more distantly related families suggest that there is a significant proportion of Old Order Amish families in which the genetic factors contributing to the expression of bipolar illness are either polygenic or oligogenic. © 1995 Wiley‐Liss, Inc.
Adrenocorticotropin receptor/melanocortin receptor‐2 maps within a reported susceptibility region for bipolar illness on chromosome 18
Authors: Detera‐Wadleigh Sevilla D. , Yoon Sung W. , Berrettini Wade H. , Goldin Lynn R. , Turner Gordon , Yoshikawa Takeo , Rollins Denise Y. , Muniec David , Nurnberger John I. , Gershon Elliot S. 
Published: June 2005

AbstractWe have examined the possible linkage of adrenocorticotropin receptor/melanocortin receptor‐2 (ACTHR/MC‐2) to a reported putative susceptibility locus for bipolar illness (BP) in 20 affected pedigrees. Initially, allelic variants of the gene were identified by polymerase chain reaction‐single stranded conformation polymorphism (PCR‐SSCP) and the gene was genetically mapped using both the Centre d'Etudes du Polymorphisme Humain (CEPH) pedigrees and the BP pedigrees used in this study. We found that the ACTHR/MC‐2 gene maps between D18S53 and D18S66. These loci span a region of chromosome 18 which, in a previous study (Berrettini et al.: Proc Natl Acad Sci USA 91:5918–5921, 1994) revealed a putative predisposing locus to BP through nonparametric methods of linkage analysis. Linkage of ACTHR/MC‐2 to BP was not demonstrable under parametric and nonparametric methods of analyses, although affected sib‐pair (ASP) method revealed an increase in allele sharing among ill individuals, P=0.023. Since this receptor is within a potential linkage region, ACTHR/MC‐2 could be considered a candidate gene for BP. © 1995 Wiley‐Liss, Inc.This Article is a U.S. Government work and, such as, is in the public domain in the United State of America.
No evidence for allelic association between bipolar disorder and monoamine oxidase a gene polymorphisms
Authors: Craddock Nick , Daniels Johanna , Roberts Enriqueta , Rees Mark , McGuffin Peter , Owen Michael J. 
Published: June 2005

AbstractWe have tested the hypothesis that DNA markers in the MAOA gene show allelic association with bipolar affective disorder. Eighty‐four unrelated Caucasian patients with DSM III‐R bipolar disorder and 84 Caucasian controls were typed for three markers in MAOA: a dinucleotide repeat in intron 2, a VNTR in intron 1, and an Fnu4HI RFLP in exon 8. No evidence for allelic association was observed between any of the markers and bipolar disorder. © 1995 Wiley‐Liss, Inc.
Evidence for a genetic association between alleles of monoamine oxidase a gene and bipolar affective disorder
Authors: Lim Lionel C. C. , Powell John , Sham Pak , Castle David , Hunt Neil , Murray Robin , Gill Michael 
Published: June 2005

AbstractWe present evidence of a genetic association between bipolar disorder and alleles at 3 monoamine oxidase A (MAOA) markers, but not with alleles of a monoamine oxidase B (MAOB) polymorphism. The 3 MAOA markers, including one associated with low MAOA activity, show strong allelic association with each other but surprisingly not with MAOB. Our results are significant only for females, though the number of males in our sample is too small to draw any definite conclusions. Our data is consistent with recent reports of reduced MAOA activity in patients with abnormal behavioral phenotypes. The strength of the association is weak, but significant, which suggests that alleles at the MAOA locus contribute to susceptibility to bipolar disorder rather than being a major determinant. © 1995 Wiley‐Liss, Inc.
Bipolar disorder: Evidence for a major locus
Authors: Spence M. Anne , Flodman Pamela L. , Sadovnick A. Dessa , Bailey‐Wilson Joan E. , Ameli Hossein , Remick Ronald A. 
Published: June 2005

AbstractComplex segregation analyses were conducted on families of bipolar I and bipolar II probands to delineate the mode of inheritance. The probands were ascertained from consecutive referrals to the Mood Disorder Service, University Hospital, University of British Columbia and diagnosed by DSM‐III‐R and Research Diagnostic Criteria. Data were available on over 1,500 first‐degree relatives of the 186 Caucasian probands.The purpose of the analyses was to determine if, after correcting for age and birth cohort, there was evidence for a single major locus. Five models were fit to the data using the statistical package SAGE: (i) dominant, (ii) recessive, (iii) arbitrary mendelian inheritance, (iv) environmental, and (v) no major effects.A single dominant, mendelian major locus was the best fitting of these models for the sample of bipolar I and II probands when only bipolar relatives were defined as affected (polygenic inheritance could not be tested). Adding recurrent major depression to the diagnosis “affected” for relatives reduced the evidence for a major locus effect. Our findings support the undertaking of linkage studies and are consistent with the analyses of the National Institutes of Mental Health (NIMH) Collaborative Study data by Rice et al. (Arch Gen Psychiatry 44: 441–447, 1987) and Blangero and Elston (Genet Epidemiol 6:221–227, 1989). © 1995 Wiley‐Liss, Inc.
Schizophrenia and the androgen receptor gene: Report of a sibship showing co‐segregation with reifenstein syndrome but no evidence for linkage in 23 multiply affected families
Authors: Arranz Maria , Sharma Tonmoy , Sham Pak , Kerwin Robert , Nanko Shin , Owen Michael , Gill Michael , Collier David 
Published: June 2005

AbstractCrow et al. [1993: Am J Med Genet (Neuro‐psychiatr Genet) 48:159–160] have reported excess sharing of alleles by male sibling pairs with schizophrenia, at a triplet repeat marker within the androgen receptor gene, indicating that mutations at or near this gene may be a risk factor for males. In this report, we describe a pair of male siblings concordant for both schizophrenia and Reifenstein syndrome, which is caused by a mutation in this gene. This provides support for the hypothesis that the androgen receptor may contribute to liability to develop schizophrenia. Because of this, we have examined a collection of 23 pedigrees multiply affected by schizophrenia for linkage to the androgen receptor. We have found no evidence for linkage by both the LOD score and affected sibling‐pair methods, under a range of genetic models with a broad and narrow definition of phenotype, and when families with male‐to‐male transmission are excluded. However, because of the small number of informative male‐male pairs in our sample, we cannot confirm or refute the excess allele sharing for males reported by Crow. © 1995 Wiley‐Liss, Inc.
Linkage analysis between manic‐depressive illness and markers on the long arm of chromosome 11
Authors: Ewald Henrik , Mors Ole , Flint Tracey , Friedrich Ursula , Eiberg Hans , Kruse Torben A. 
Published: June 2005

AbstractThe long arm of chromosome 11 is one of the most interesting regions in the search for major genes involved in the etiology of manic‐depressive illness. Several candidate genes have been identified, including the gene encoding the dopamine D2 receptor, the M1 muscarinic receptor, and porfobillinogen deaminase. Furthermore, different families with co‐segregation of psychiatric illness and structural chromosome abnormalities involving regions 11q21, 11q22.3, and 11q25 have been reported. Using narrow as well as broad phenotypic models, conservative genetic parameters, models with dominant or recessive modes of inheritance, and various methods to reduce misclassification, the present study did not find evidence for a major gene causing manic‐depressive illness on the long arm of chromosome 11. In the broader phenotypic models multi‐point analyses excluded at least 11q14 to 11q23.3, approximately 60 cM, even in one large family. Assuming homogeneity close linkage to DRD2 was excluded for all dominant models, and also in the affecteds‐only analyses in the large family alone. © 1995 Wiley‐Liss, Inc.