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Titolo:
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
Autore:
Kaufmann, WE; Abrams, MT; Chen, WM; Reiss, AL;
Indirizzi:
Kennedy Inst, Baltimore, MD 21205 USA Kennedy Inst Baltimore MD USA 21205Kennedy Inst, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA Med, Dept Pathol, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA Med, Dept Neurol, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA Med, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA ed, Dept Psychiat, Baltimore, MD USA Stanfordildiv, Sch Med, Dept Psychiat, Div Child & Adolescent Psychiat & Ch Stanford Univ Stanford CA USA 94305 Div Child & Adolescent Psychiat & Ch StanforddUniv, Sch Med, Dept Pediat, Div Child & Adolescent Psychiat & Chil Stanford Univ Stanford CA USA 94305 iv Child & Adolescent Psychiat & Chil
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 83, anno: 1999,
pagine: 286 - 295
SICI:
0148-7299(19990402)83:4<286:GMPACP>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
RAPID ANTIBODY-TEST; MENTAL-RETARDATION; FULL MUTATION; CGG-REPEAT; FMR1 GENE; PROTEIN EXPRESSION; DIRECT DIAGNOSIS; FEMALE CARRIERS; CPG ISLAND; PREMUTATION;
Keywords:
fragile X; FMRP; immunoblotting; leukocytes; IQ; FMR1; activation ratio;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Kaufmann, WE Kennedy Inst, 707 N Broadway,room 522, Baltimore, MD 21205 USA Kennedy Inst 707 N Broadway,room 522 Baltimore MD USA 21205 A
Citazione:
W.E. Kaufmann et al., "Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome", AM J MED G, 83(4), 1999, pp. 286-295

Abstract

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations between FMRP levels, and neurologic phenotype have been established. However, most of these investigations have focused on individuals at both ends of the genetic and cognitive spectra of FraX, subjects with normal or premutation (PM) alleles or males with the FMR1 full mutation (FM), The present studyis designed to characterize FMRP expression and to correlate it with IQ, in a sample representing a wide spectrum of FMR1 mutations, For this purposewe developed a highly sensitive immunoblotting assay using peripheral leukocytes. Three distinct patterns of FMRP immunoreactivity (-ir) emerged. Individuals with normal (n = 28) and PM (n = 8) alleles as well as most females with the FM (n = 14) showed the highest levels with multiple similar to 70-80 kDa FMRP-ir bands. Males with the FEM (n = 10) demonstrated only a 70 bDa FMRP-ir band, and had significantly lower levels when compared with anyprevious groups. Males with mosaicism and three of 14 females with FM displayed a doublet with equal amounts of the highest and lowest molecular weight FMRP-ir bands. Multiple regression models that adjust for the effect of parental IQ indicated that both activation ratio and FMRP-ir are significantly correlated to subject IQ, We conclude that FMRP-ir offers promise as anindicator of the impact of FMR1 mutations upon neurologic function. Furthermore, our unexpected finding of FMRP-ir in all males with FM suggests thatmost of them are not transcriptionally silent. (C) 1999 Wiley-Liss, Inc.

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Documento generato il 02/04/20 alle ore 13:06:49