FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample

Genetic Testing and Molecular Biomarkers
Pavel Romero-EspinozaPatricio Barros-Núñez

Abstract

Molecular diagnosis of fragile X syndrome (FXS) is carried out by Southern blot or polymerase chain reaction-Southern analysis; however, these procedures are expensive and time consuming, making it impractical for mass screening programs. Willemsen et al. developed and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of fragile X mental retardation protein (FMRP) in peripheral lymphocytes from normal individuals and its absence in male patients with FXS. The diagnostic power of this antibody test is perfect for men, whereas the results are less specific for women. Validation of this procedure has been achieved mainly in the Caucasian population, but no reports including Latin American individuals have been published. To test this procedure, expression of FMRP in peripheral lymphocytes was achieved both in Mexican FXS patients and normal men and was compared with the molecular analysis of the CGG repetitive sequences of the FMR1 gene. The results of the antibody test, which measure the FMRP expression, entirely correlated with the molecular tests using polymerase chain reaction on DNA modified. Sensitivity and specificity of the test and the positive and negative predictive values w...Continue Reading

References

Apr 1, 1992·American Journal of Medical Genetics·I TejadaA Boué
Apr 1, 1992·American Journal of Medical Genetics·S J KnightY Nakahori
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
May 6, 1995·Lancet·R WillemsenB Oostra
Oct 5, 1996·Lancet·R WillemsenB A Oostra
Jun 1, 1997·Journal of Inherited Metabolic Disease·A T Hoogeveen, B A Oostra
Jul 25, 1998·Journal of Medical Genetics·B B de VriesM F Niermeijer
Dec 18, 1998·Human Genetics·B B de VriesR Willemsen
Jun 12, 1999·American Journal of Human Genetics·R WillemsenB A Oostra
Aug 14, 1999·Human Mutation·I PanagopoulosP Aman
Nov 15, 2000·American Journal of Medical Genetics·E TunçbilekR Willemsen
Nov 24, 2001·Brain Research Bulletin·B BardoniJ L Mandel
Jul 11, 2002·Human Genetics·Rob WillemsenBen A Oostra
Jul 5, 2003·Journal of Medical Genetics·B B A de VriesR Willemsen
Jul 25, 2003·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·F J Ramos, R Willemsen
Nov 1, 2003·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·M Rifé SolerM Milà Recasens
May 19, 2005·Journal of Clinical Laboratory Analysis·M Shyla RavindranShiny Babu
Jun 14, 2005·Archives of Medical Research·Mónica Alejandra Rosales-ReynosoPatricio Barros-Núñez
Jul 14, 2007·Genetic Testing·Mónica Alejandra Rosales-ReynosoPatricio Barros-Núñez
Apr 10, 2008·European Journal of Human Genetics : EJHG·Kathryn B GarberStephen T Warren
Feb 24, 2009·Biochimica Et Biophysica Acta·Ben A Oostra, Rob Willemsen
May 23, 2009·The Journal of Molecular Diagnostics : JMD·Christine IwahashiPaul J Hagerman
Jul 8, 2009·Pediatrics·Eriel Wallace Hayes, Reuben Matalon
Nov 7, 2009·Journal of Biomedicine & Biotechnology·Ching-Cherng TzengHui-Ting Chang

❮ Previous
Next ❯

Citations

May 31, 2018·Experimental and Therapeutic Medicine·Zhengyou MiaoXia Liu

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.