0000000000066919
AUTHOR
Sibylle G. Schwab
Fragile-X carrier females: evidence for a distinct psychopathological phenotype?
The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…
Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females
Abstract The present French–German investigation of fragile-X syndrome (fra-X) was undertaken to disentangle genetic from environmental effects on cognitive performance as assessed with the following measures: Wechsler Adult Intelligence Scale-Revised (WAIS-R), Wisconsin Card Sorting Test, Trail-Making Test, Tower of Hanai, Verbal Fluency Test, Stroop Test, short-term and consolidation memory, and the d2 task. Groups with different genotypes ( n =11 mothers with a full mutation in the FMR-1 gene of fra-X children; n =65 mothers with a premutation in the FMR-1 gene of fra-X children; n =18 siblings of these mothers with normal CGG repeats) and with different psychosocial stressors from fra-X…
Gegenwärtiger Stand der Kopplungsuntersuchungen bei Schizophrenie
Fur schizophrene Erkrankungen besteht ein deutlich erhohtes genetisches Risiko, belegt durch Familien-, Zwillings- und Adoptionsstudien [1]. Die Konkordanzrate bei eineiigen Zwillingen betragt etwa 50%, ein im Vergleich zu zweieiigen Zwillingen etwa 3fach erhohtes Erkrankungsrisiko [1]. Ein einfacher Mendelscher Erbgang mit einem einzigen verantwortlichen Genort ist jedoch nicht nachweisbar. Schizophrene Erkrankungen gehoren wie zum Beispiel auch Diabetes, Bluthochdruck, Krebserkrankungen, zu den komplexen genetischen Erkrankungen mit polygener, bzw. multifaktorieller Vererbung.
Untersuchungen zur Kopplung zwischen Schizophrenie und der pseudoautosomalen Region
Fur die Suche nach Genorten fur genetisch determinierte Erkrankungen mit Hilfe von Kopplungsanalysen werden zwei Strategien angewandt: 1. das systematische Absuchen des Genoms auf Kopplung von Genort mit Marker mit Hilfe von DNA-Markern (RFLP, Short Tandem Repeats) in regelmasigen Abstanden, 2. die Verwendung von DNA-Markern zur Kopplungsanalyse in Kandidatengenregionen, fur die ein Zusammenhang mit der Erkrankung angenommen wird, bei psychiatrischen Erkrankungen, z. B. Genorte fur Enzyme, Rezeptoren, Transporter fur Neurotransmitter.
Potential linkage for schizophrenia on chromosome 22q12-q13: a replication study.
In an attempt to replicate a potential linkage on chromosome 22q12-q13.1 reported by Pulver et al. [1994: Am J Med Genet 54:36–43], we have analyzed 4 microsatellite markers which span this chromosomal region, including the IL2RB locus, for linkage with schizophrenia in 30 families from Israel and Germany. Linkage analysis by pairwise lod score analysis as well as by multipoint analysis did not provide evidence for a single major gene locus. However, a lod score of Zmax = 0.612 was obtained for a dominant model of inheritance with the marker D22S304 at recombination fraction 0.2 by pairwise analysis. In addition, using a non-parametric method, sib pair analysis, a P value of 0.068 correspon…
Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis
The influence of genetic factors in schizophrenia has been convincingly demonstrated by family, twin and adoption studies, but the mode of transmission remains uncertain. The reported pattern of recurrence risks suggests a set of interacting loci. Based on prior evidence for linkage on chromosome 6p (K. Kendler, pers. comm.), we have scanned the short arm of chromosome 6 in 54 families for loci predisposing to schizophrenia, using 25 microsatellite markers spanning 60 centiMorgans (cM). Allele sharing identity by descent was examined in affected sib-pairs from these families, followed by multipoint sib-pair linkage analysis. Positive lod scores were obtained over a wide region (D6S470 to D6…