Rapid antibody test for fragile X syndrome

R Willemsen; S Mohkamsing; B de Vries; D Devys; A van den Ouweland; J L Mandel; H Galjaard; B Oostra

doi:10.1016/s0140-6736(95)90979-6

Rapid antibody test for fragile X syndrome

Lancet. 1995 May 6;345(8958):1147-8. doi: 10.1016/s0140-6736(95)90979-6.

Authors

R Willemsen¹, S Mohkamsing, B de Vries, D Devys, A van den Ouweland, J L Mandel, H Galjaard, B Oostra

Affiliation

¹ Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands.

PMID: 7723547
DOI: 10.1016/s0140-6736(95)90979-6

Abstract

Fragile X syndrome is the most common known cause of inherited mental retardation. Identification of patients and carriers of fragile X syndrome is usually done with a DNA test system but we have developed a rapid antibody to identify fragile X patients. This non-invasive test requires only 1 or 2 drops of blood and can be used for screening large groups of mentally retarded people and neonates for fragile X syndrome.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Antibodies, Monoclonal
DNA / genetics
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / blood
Fragile X Syndrome / diagnosis*
Fragile X Syndrome / genetics
Genetic Carrier Screening
Heterozygote
Humans
Male
Nerve Tissue Proteins / blood
RNA-Binding Proteins / blood

Substances

Antibodies, Monoclonal
FMR1 protein, human
Nerve Tissue Proteins
RNA-Binding Proteins
Fragile X Mental Retardation Protein
DNA