On the other hand, it was found that the minimum eigenvector of the tensor points to a low-density causative body and that the dip of the minimum eigenvector closely follows the dip of the reverse fault.
A summary of other causative point mutations in the remaining six patients, as well as age and symptoms at onset, familiarity, associated symptoms and Neuropathy Symptom Score, Neuropathy Deficit Score, Neuropathy Impairment Score lower limbs grading for all 13 patients are given in Table 1.
In contrast, the process of gene identification is far more laborious in forward genetic screens since a causative (usually point) mutation must be identified amongst the entire genome.
Since 2013, a genetic test for the Warmblood Fragile Foal Syndrome Type 1 (WFFS), interrogating the causative point mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLor1, or lysyl hydroxylase 1) gene, has become available.
Sanger sequencing of genomic DNA from the B502 ESC clone identified causative point mutations of both genes.
Recently, whole-exome deep sequencing has accelerated our ability to find the causative point mutations, resulting in the discovery of novel and sometimes unexpected genes.
Positional cloning and candidate gene sequencing localized the causative point mutations within the genes coding for natriuretic peptide receptor C (NPR-C) and filamin b (FLNB), respectively.
Until now, >120 causative point mutations have been described, with substitution of valine by methionine at position 30 (Val30Met) being the most frequent (Buxbaum and Tagoe, 2000; Hund et al., 2001; Reilly, 2005).
The first of these, tg SOD1 G93A, carries an ALS-causative point mutation resulting in a glycine to alanine substitution at residue 93 (Gurney et al., 1994).
From Fig. 4a, it is found that the maximum eigenvector of the gravity gradient tensor points to a high-density causative body if the body is embedded in the low-density medium.
