Multiplex Allele-Specific Fluorescent PCR for Haplotyping the IVS8 (TG)m(T)n Locus in the CFTR Gene
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چکیده
منابع مشابه
Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.
BACKGROUND Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)(m) locus influences the penetrance of the (T)(5) allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens (CBAVD) or other CFTR-related disorders (CFT...
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...
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 کاملDevelopment of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis has been implemented for Cystic Fibrosis (CF) carrier screening, and molecular diagnosis of CF and congenital bilateral absence of the vas deferens (CBAVD). Although poly-T allele analysis in intron 8 of CFTR is required when a patient is positive for R117H, it is not recommended for routine carrier screening. The...
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this thesis is based upon the works of samuel beckett. one of the greatest writers of contemporary literature. here, i have tried to focus on one of the main themes in becketts works: the search for the real "me" or the real self, which is not only a problem to be solved for beckett man but also for each of us. i have tried to show becketts techniques in approaching this unattainable goal, base...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2008
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2008.103259