Quantification of CFTR IVS8(T) splice variants in CAVD patients
نویسندگان
چکیده
منابع مشابه
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results in a wild-type transcript and one without exon 9. Little is known about expression of the CFTR gene i...
متن کاملMethods and platforms for the quantification of splice variants' expression.
The relatively limited number of human protein encoding genes highlights the importance of the diversity generated at the level of the mRNA transcripts. As alternative RNA splicing plays a key role in mediating this diversity, it becomes critical to develop the tools and platforms that will deliver quantitative information on the specific expression levels associated with splice isoforms. This ...
متن کاملQuantification of splice variants using real-time PCR
A reliable and robust method for measuring the expression of alternatively spliced transcripts is an important step in investigating the significance of each variant. So far, accurate quantification of splice variants has been laborious and difficult due to the intrinsic limitations of conventional methods. The many advantages of real-time PCR have made this technique attractive to study its ap...
متن کاملNovel MUC1 splice variants contribute to mucin overexpression in CFTR-deficient mice.
A cystic fibrosis (CF) mouse expressing the human mucin MUC1 transgene (CFM) reverted the CF/Muc1(-/-) phenotype (little mucus accumulated in the intestine) to that of CF mice expressing mouse Muc1, which exhibited increased mucus accumulation. Western blots and immunohistochemical analysis showed that the MUC1 protein was markedly increased in CFM mice in which it was both membrane bound and s...
متن کاملO-48: Heterogenous Spectrum of CFTR GeneMutations in Indian Patients with CongenitalAbsence of Vas Deferens
Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2010
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(10)60058-6