Molecular Genetic Testing Linkage Analysis

Localization of the SMA critical region allowed linkage analysis as the first genetic test. Informative linkage markers have been listed.[20] Linkage analysis remains an important tool in certain clinical settings.[3,21]

At least one of the factors underlying the variable phenotype of SMA is the SMN2 copy number. Individuals with type III SMA have, on average, more copies of SMN2 than individuals with type II or type I SMA,[13-16] and likely express more full-length SMN protein from SMN2. The number of SMN2 copies correlates with longer survival.[15] Mouse models of SMA also show dosage effects of SMN2 in rescuing SMA symptoms.[17] However, other modifying factors must exist as SMN2 copy numbers of the three SMA types overlap.

Various small intragenic mutations have also different effects on SMA phenotype. In in vitro experiments, G279V (836G>T) and Y272C (815A>G) caused a severe impairment of oligomerization, whereas S262I

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment