Words similar to fbn
Example sentences for: fbn
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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 blots were hybridized successively with the three overlapping long-range RT-PCR fragments covering the FBN1 coding region, that were generated from a normal cDNA template as described above.
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.
Genomic DNA and total RNA were extracted from fibroblast cultures established from skin biopsies as described [ 14 ] . Long-range RT-PCR amplification of FBN1 cDNA fragments and restriction enzyme digestions were performed as previously reported [ 8 ] . Fragments migrating abnormally in agarose gel electrophoresis were excised, purified with the QIAquick Gel Extraction Kit (QIAGEN) and directly sequenced with fluorescent terminators on an ABI Prism 377 DNA sequencer (Perkin-Elmer).
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.
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