Gene variability

Charcot-Marie-Tooth disease and other inherited neuropathies AD, AR or X-linked PMP-22, P0, connexin-32 and other genes Variable degrees of myelin deficiency specific for the PNS see text 1,28-30... 

TBXA2R gene variability may also contribute to interindividual differences in the efficacy of pharmaceutical agents that act on this system. A positive association between a polymorphism in the TBXA2R gene and risk of asthma, atopy, and the aspirin-intolerant... 

Doege KJ, Coulter SN, Meek LM, Maslen K, Wood JG. A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population. J Biol Chem 1997 272 13974-13979. 

Several silk fibroin genes have been cloned and sequenced and they all show a similar sequence pattern variable domains at the N- and C-termini flank a large region of repetitive short sequences of alternating poly-Ala (8 to 10 residues) and Gly-Gly-X repeats (where X is usually Ser, Tyr, or Gin). This middle region varies in length and may comprise up to 800 residues. 

The observation of dependent variable values (in functional experiments this is cellular response) as they happen (i.e., as the agonist or antagonist binds to the receptor and as the cell responds) is referred to as real time. In contrast, a response chosen at a single point in time is referred to as stop-time experimentation. There are certain experimental formats that must utilize stop-time measurement of responses since the preparation is irreparably altered by the process of measuring response. For example, measurement of gene activation through reporter molecules necessitates lysis of the cell. Therefore, only one... 

Myoclonic epilepsy with ragged-red fibers (MERPF) is a rare syndrome which shows clear maternal inheritance and a variable clinical pattern including progressive myoclonus, cerebellar ataxia, dementia, and muscle weakness. It is associated with an A-to-G transition at position 8344 of the tRNA Lys gene in the mtDNA. The mutation is heteroplasmic and produces similar multicomplex deficiencies as are seen in KSS. 

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