Words similar to fbn
Example sentences for: fbn
How can you use “fbn” in a sentence? Here are some example sentences to help you improve your vocabulary:
4%) exon skipping mutations, and 4 other mutations, as listed in the Human Gene Mutation Database (HGMD, http://archive.uwcm.ac.uk/uwcm/mg/search/127115.html) [ 4 ] and reported more recently [ 5 ] . Although the FBN1 gene, including three alternatively spliced 5' untranslated exons [ 6 ] extends over 235 kb of genomic DNA in chromosome band 15q21.
The MFS phenotype is the result of mutations in FBN1, a large gene composed of 65 exons encoding the 350 kD fibrillin-1 protein that is the major constituent of microfibrils in the extracellular matrix (reviewed in [ 3 ] ). To date, 201 unique FBN1 mutations have been identified, including 70 (34.
To determine whether the low value for synthesis was due to reduced mutant transcript levels, we made use of the Rsa I restriction site polymorphism in the FBN1 3'UTR for which the patient is heterozygous.
For example, exon-skipping mutations in the central region of the gene, exons 24-32, cause severe phenotypes or neonatal presentations [ 8 ] . But there are exceptions, only four of the many other mutations in this region cause severe phenotypes, while one mutation predicted to lead to skipping of exon 24 was found in a patient with classic MFS [ 5 ] . In contrast, most cysteine substitutions cause classic MFS with a high frequency of lens dislocation, although some patients in our study did not meet the Ghent criteria for diagnosis of MFS [ 9 ] . Amino-acid substitutions not disrupting disulfide bonds may be associated with fibrillinopathies other than MFS, although mutations in the calcium-binding consensus sequence have been reported in individuals with classic MFS [ 5 10 11 12 ] . It is clear from the studies reported so far, that genotype-phenotype correlations are not straight-forward for FBN1 mutations.
The FBN1 mutation detection rate for individuals with clinically diagnosed MFS is currently about 75% when the gene is completely screened with a DNA-based PCR amplification protocol of individual exons [ 15 26 ] . Genomic deletions such as the ones reported here are not a frequent cause of human disease and would be missed by this approach.
Loading...