BACKGROUND: About 10% of infertilities with obstructive @entity3893 are congenital and caused by @entity1577 gene mutations. @entity68214 mutation was observed for the first time in Taiwanese @entity1 . This mutation not only causes @entity1577 , but also may be the origin of @entity249 too. OBJECTIVE: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of @entity68214 mutation. The correlation and association between @entity68214 mutation with @entity249 was investigated in this study. MATERIALS AND METHODS: one hundred ten @entity1 (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study. @entity68214 mutation was detected using RFLP-PCR. This technique was completely designed for @entity68214 genotyping, for the first time in our study. Amplification of the region surrounding the mutation in exon 10 of @entity5174 gene was then performed. RFLP analysis was carried out using the NdeI restriction enzyme. RESULTS: All genomic DNA samples were genotyped successfully. @entity68214 mutation was observed only in @entity1 group. Therefore, genotype containing mutant allele (GT) has been detected only in the @entity1 group. There was no significant correlation between GT and TT genotypes with @entity249 (p=0.437). CONCLUSION: The @entity68214 mutation has only been observed in Exon 10 @entity5174 gene of @entity249 @entity1 , not in the control group. This mutation causes congenital bilateral absence of vaz deferens and finally @entity249 . This indicates a strong association between the @entity68214 mutation and @entity4810 . Therefore, this is a @entity1577 -causing @entity5174 mutation that could be considered as a cause of @entity249 .

Exon 10 @entity5174 gene mutation in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity249 :: ('MESH:D007246', 'Disease') :: ['infertility', 'infertile'] @entity5174 :: ('1080', 'Gene') :: ['CFTR'] @entity4810 :: ('MESH:D007248', 'Disease') :: ['male infertility'] @entity68214 :: ('p|SUB|M|469|I', 'ProteinMutation') :: ['M469I'] @entity1577 :: ('MESH:D003550', 'Disease') :: ['CF'] @entity3893 :: ('MESH:D053713', 'Disease') :: ['azoospermia']
@entity4810 :: (MESH:D007248,Disease) :: ['male infertility']
