Journal of Andrology
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Published-Ahead-of-Print February 21, 2007, DOI:10.2164/jandrol.106.002337

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Molecular Study of (TG)m(T)n Polymorphism in Iranian Males with Congenital Bilateral Absence of the Vas Deferens

Ramin Radpour *, Hamid Gourabi , Mohamad Ali Sadighi Gilani , and Ahmad Vosough Dizaj

* To whom correspondence should be addressed. E-mail: rradpour{at}royaninstitute.org.

Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. Nearly 75% of men with CBAVD have at least one detectable common CFTR mutation. The different alleles at the (TG)m(T)n polymorphic loci at the 30 end of the human CFTR intron 8 determine the efficiency of exon 9 splicing. To study the CFTR gene mutations and (TG)m(T)n polymorphism in Iranian CBAVD patients with presumed low cystic fibrosis (CF) frequency, and to better understand the complex regulation of exon 9 splicing between our studied population, we analyzed CFTR mutations and (TG)m(T)n polymorphism in 112 Iranian CBAVD and 7 CUAVD males from Iran with 84 fertile males as control. Moreover, we compared the rate of CFTR transcripts with exon 9 (9+) with reduction of the (T)n repeat in our studied population. Our study showed that the 5T mutation revealed a high frequency in our patients. The longer of (TG)m polymorphic tract increases the proportion of exon 9 deletion (9-) transcripts, but only when activated by the 5T allele. The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD in Iranian population. We also observed the highest level of the exon 9+ splicing efficiency between the tested samples with the TG12T7 allele, which represents the most common IVS8 allele in the general population. Our results support the idea that a putative role of the (T)n repeat is to distance the TGm repeat from the 30 splice site, and the different alleles at the Tn locus affect the efficiency by which the splice acceptor consensus sequence is recognized.


Key words: Reproductive Genetics • CBAVD • CFTR • IVS8-5T • congenital bilateral absence of the vas deferens • male infertility




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R. Radpour, H. Gourabi, M. A. S. Gilani, and A. V. Dizaj
Correlation Between CFTR Gene Mutations in Iranian Men With Congenital Absence of the Vas Deferens and Anatomical Genital Phenotype
J Androl, January 1, 2008; 29(1): 35 - 40.
[Abstract] [Full Text] [PDF]


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