ABCMdb

PMID: 25246892

Hojati Z, Heidari S, Motovali-Bashi M
Exon 10 CFTR gene mutation in male infertility.
Iran J Reprod Med. 2012 Jul;10(4):315-20., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Met469Ile M469I mutation was observed for the first time in Taiwanese patients. Login to comment 7 ABCC7 p.Met469Ile Objective: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation. Login to comment 8 ABCC7 p.Met469Ile The correlation and association between M469I mutation with infertility was investigated in this study. Materials and Methods: one hundred ten patients (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study. Login to comment 9 ABCC7 p.Met469Ile M469I mutation was detected using RFLP-PCR. Login to comment 10 ABCC7 p.Met469Ile This technique was completely designed for M469I genotyping, for the first time in our study. Login to comment 14 ABCC7 p.Met469Ile M469I mutation was observed only in patients group. Login to comment 16 ABCC7 p.Met469Ile Conclusion: The M469I mutation has only been observed in Exon 10 CFTR gene of infertile patients, not in the control group. Login to comment 18 ABCC7 p.Met469Ile This indicates a strong association between the M469I mutation and male infertility. Therefore, this is a CF-causing CFTR mutation that could be considered as a cause of infertility. Login to comment 51 ABCC7 p.Asn1303Lys The association between some of these CFTR mutations and male infertility have already been detected like ƊF508, M470V, ƊI507, N1303K (11-13). Login to comment 53 ABCC7 p.Met469Ile Here, a procedure based on PCR was designed for rapid detection of M469I mutation. Login to comment 73 ABCC7 p.Met469Ile The location of the M469I mutation was also determined in this exon. Login to comment 77 ABCC7 p.Met469Ile The polymorphism that produced by the M469I mutation also does not produce any cut site for the NdeI. Login to comment 79 ABCC7 p.Met469Ile The amplification of exon 10 will produce a fragment that contains an NdeI cut site, if there is no M469I mutation in this region. Login to comment 80 ABCC7 p.Met469Ile In the presence of M469I CFTR mutation and infertility Iranian Journal of Reproductive Medicine Vol. 10. Login to comment 85 ABCC7 p.Met469Ile RFLP-PCR The region in proximity of the M469I mutation was amplified by specific designed primers (Table I), using Ependorf PCR machine (Germany). Login to comment 88 ABCC7 p.Met469Ile Statistical analysis Three GG, GT, TT genotypes for M469I polymorphism was studied here by RFLP technique. Login to comment 90 ABCC7 p.Met469Ile ABCC7 p.Met469Ile Results The PCR was carried out using the isolated DNA as template and designed primers, CF- M469I-F and CF-M469I-R. Login to comment 97 ABCC7 p.Met469Ile So this azoospermia patient carries two non-identical alleles, including one T that indicates the M469I mutated allele and one G that indicates the normal or wild type allele. Login to comment 101 ABCC7 p.Met469Ile The M469I mutation was studied here by RFLP-PCR. Login to comment 119 ABCC7 p.Met469Ile M469I SNP detection in exon 10 of CFTR gene using RFLP-PCR reaction. Login to comment 120 ABCC7 p.Met469Ile ABCC7 p.Met469Ile A set of specific designed primers (CF-M469I-F and CF-M469I-R) were used for amplification of some part of exon 10 of the CFTR gene. Login to comment 125 ABCC7 p.Met469Ile I heterozygote infertile patient (GT: M469I), II uncut PCR product, III a normal homozygote GG person. Login to comment 128 ABCC7 p.Met469Ile M469I mutation that occurs in NBD1 was observed for the first time in Taiwanese patients in 2005. Login to comment 129 ABCC7 p.Met469Ile They included 36 CBAVD patients in their study; one of them was detected to have M469I mutation. Login to comment 147 ABCC7 p.Met469Ile The purpose of this study was investigation of the existence of M469I mutation in Iran's population. Login to comment 149 ABCC7 p.Met469Ile Here we screened one hundred azoospermia infertile male for the existence of the M469I mutation. Login to comment 154 ABCC7 p.Met469Ile When M469I mutation occurs in nucleotide binding domain of CFTR gene, it damages the normal structure of transmembrane protein. Login to comment 156 ABCC7 p.Met469Ile This indicates a strong association between the M469I mutation and male infertility. Login to comment 159 ABCC7 p.Met469Ile So M469I could be used in genetic counseling and pre-implantation genetic detection, to prevent from further fertility recurrence in successive generations. Login to comment