TY - JOUR
T1 - Rapid antibody test for diagnosing fragile X syndrome
T2 - A validation of the technique
AU - Willemsen, Rob
AU - Smits, Arie
AU - Mohkamsing, Serieta
AU - Van Beerendonk, Hetty
AU - De Haan, Anton
AU - De Vries, Bert
AU - Van Den Ouweland, Ans
AU - Sistermans, Erik
AU - Galjaard, Hans
AU - Oostra, Ben A.
PY - 1997/3
Y1 - 1997/3
N2 - To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is 'perfect' for males, whereas the results are less specific for females.
AB - To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is 'perfect' for males, whereas the results are less specific for females.
UR - http://www.scopus.com/inward/record.url?scp=17544386437&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s004390050363
DO - https://doi.org/10.1007/s004390050363
M3 - Article
C2 - 9050914
SN - 0340-6717
VL - 99
SP - 308
EP - 311
JO - Human genetics
JF - Human genetics
IS - 3
ER -