نتایج جستجو برای: triplet repeat primed
تعداد نتایج: 96107 فیلتر نتایج به سال:
Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the extremity muscles with CAG triplet repeat expansion in androgen receptor gene. Hirayama (HD) juvenile onset asymmetric amyotrophy hand most common males Asia. We report a patient atypical Kennedy presenting typical HD.
PURPOSE To analyze the expansion of CTG18.1 allele associated with Fuchs' corneal dystrophy (FCD) in our large cohort of late-onset FCD cases. METHODS CTG repeats within the CTG18.1 allele were estimated by short tandem repeat (STR) and triplet primed PCR (TP-PCR) assays in our large cohort of 574 late-onset FCD cases and 354 controls and large multigeneration familial cases. The age versus s...
Motivation: Over a dozen major degenerative disorders, including myototonic distrophy, Huntington's disease, and fragile X syndrome, result from unstable expansions of particular trinucleotides. Remarkably, only some of all the possible triplets, namely CAG/CTG, CGG/CCG and GAA/TTC, have been associated with the known pathological expansions. This raises some basic questions at the DNA level. W...
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The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical conditions ...
Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease mechanisms and a method for clinical diagnostic genotyping have been hindered because of the difficulty in estimating the expansion size. We found 96 repeat-primed PCR expansions: 85/2,974 in six neurodegenerative diseases c...
OBJECTIVE To determine whether GGGGCC (G4C2) repeat expansions at loci other than C9orf72 serve as common causes of amyotrophic lateral sclerosis (ALS). METHODS We assessed G4C2 repeat number in 28 genes near known ALS and frontotemporal dementia (FTD) loci by repeat-primed PCR coupled with fluorescent fragment analysis in 199 patients with ALS (17 familial, 182 sporadic) and 136 healthy cont...
Charge and spin transport properties of a clean $SNS$ Josephson junction (triplet superconductor-normal metal-triplet superconductor) are studied using the quasiclassical Eilenberger equation of Green’s function. Our system consists of two p-wave superconducting crystals separated by a Copper nano layer. Effects of thickness of normal layer between superconductors on the spin and charge current...
OBJECTIVE Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy. Indian data regarding clinical and genetic evaluat...
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