CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
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چکیده
منابع مشابه
CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy...
متن کاملLung disease associated with the IVS8 5T allele of the CFTR gene.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients w...
متن کاملIntragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that prod...
متن کاملRapid detection of cystic fibrosis transmembrane conductance regulator gene IVS8 5T variant by real-time PCR.
with specific marker proteins in routine laboratories , in which nephelometric instrumentation is frequently available but manpower is limited and the expert knowledge required to interpret proteinuria is lacking. improved pyrogallol red-molybdate method for determining total urinary protein. Urinary protein as measured with a pyrogallol red-molybdate complex, manually and in a Hitachi 726 auto...
متن کاملSimple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene.
BACKGROUND The 5T allele of the polyT tract located within intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a variant that in trans with a severe CFTR mutation can result in normal phenotype, congenital bilateral absence of vas deferens (CBAVD), or mild cystic fibrosis. The 5T allele has been associated with the skipping of exon 9, a process that seems to be in...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.4.297