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• W138363953 abstract "Introduction: Fragile X syndrome is the most common form of inherited mentalretardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 genelocated on X chromosome. Males carrying a full mutation are always mentallyretarded, whereas females carrying a full mutation show mild to moderate mentalimpairment in only approximately 60% of cases, due to the X-inactivation process.The absence of the FMR1 gene product, FMRP, in the brain is hypothesized ascausative for the observed mental retardation in fragile X patients. Antibody testshave been developed to identify fragile X patients, based on the presence or absenceof FMRP in both lymphocytes and hair roots. It has been proposed that FMRPexpression in hair roots from females carrying a full mutation may be used as aprognostic value for the mental capacities. Hair roots originate from the ectoderm,like brain tissue, and may therefore show a better correlation between FMRPexpression and cognitive functioning than FMRP expression in lymphocytes, whichoriginate from the mesoderm.Objectives: This study focussed on the relationship of the antibody test for cognitivefunctioning in females carrying a full mutation using either hair roots or bloodsmears.Method: Thirty samples from females carrying either a normal, premutation or fullmutation were included in this study. All subjects were selected from an Indonesianfragile X family. The analyses were performed in a blind fashion. All subjects weretested for FMRP expression in lymphocytes and hair roots using the antibody test.Classification of the genotypes of the subjects was obtained by Southern blotanalysis. IQ equivalent were determined using Standard Progressive Matrices (SPM)from Raven, a non-verbal IQ-test. Statistical analysis to show the correlation ofFMRP expression and IQ equivalent was developed using Pearson correlation.Result: We report a significant relationship between FMRP expression in hair rootsand cognitive functioning in female carriers of the fragile X full mutation (r=0.64,p=0.015) whereas in lymphocytes no significant relationship could be established(r=0.31, p= 0.281). We also reported that FMRP expression in blood smear wasrelatively higher than hair roots. We also demonstrated in our study group that IQequivalents were about 14 % in normal range, 7 % in the borderline range and 79 %in mild mental impairment range.Conclusion: Although the size of our study group was limited the results suggest thatFMRP expression in cell of hair roots has stronger correlation for cognitivefunctioning in females carrying a full mutation than FMRP expression inbloodsmears.Keywords: fragile X syndrome, females full mutation, FMRP, cognitive functioning" @default.
• W138363953 created "2016-06-24" @default.
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• W138363953 date "2009-01-01" @default.
• W138363953 modified "2023-09-27" @default.
• W138363953 title "RELATIONSHIP BETWEEN FMRP EXPRESSIONIN CELL FROM HAIR ROOTS AND BLOOD SMEARSWITH COGNITIVE FUNCTIONING IN FRAGILE XFULL MUTATION FEMALE" @default.
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