Positive Selection of a Pre-expansion CAG Repeat of the Human SCA2 Gene

Spinocerebellar ataxia type 2

“…This mutation seems to have arisen independently many times in the history of mankind, expanding over centuries (Didierjean et al, 1999), and was subject to Mendelian selection in genetically isolated populations according to haplotype and linkage disequilibrium evidence (Yu et al, 2005). As an initial mutation step, a variant CAG repeat with only one CAA interruption was documented (Choudhry et al, 2001).…”

Visuospatial and psychomotor aptitude predicts endovascular performance of inexperienced individuals on a virtual reality simulator

“…Five validated tests of VSA and psychomotor ability were chosen after an extensive literature search. 16,[19][20][21][22] It was the intention for each test to measure skills relevant to endovascular procedures (Table I; Fig 1). Each student was given written instructions about the task and a mock question to determine if the task was understood.…”

“…All tasks were timed and completed as instructed in the literature. [19][20][21] The simulator. The simulator used in the study was the Vascular Intervention Simulation Trainer (Procedicus VIST, Mentice, Gothenburg, Sweden) and has been extensively described previously.…”

Positive Darwinian selection in human population: A review

“…Research has indicated recent positive selection on haplotypes associated with the (CAG)8CAA(CAG)4CAA-(CAG)8 allele in modern Europeans [46] . Duchenne muscular dystrophy (DMD, OMIM: 300377) is a lethal X-linked excessive genetic disorder, the main clinical feature being progressive deterioration of muscle tissue, caused by a mutation of the DMD gene.…”