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Screening of Two Neighboring CFTR Mutations in IranianInfertile Men with Non-Obstructive Azoospermia

View Article: PubMed Central - PubMed

ABSTRACT

The genetic association between cystic fibrosis transmembrane conductance regulator(CFTR) gene mutations and male infertility due to congenital bilateral absence of vasdeferens (CBAVD) is well established. Mutant CFTR, however may also be involved inthe etiology of male infertility in non-CBAVD cases. The present study was conductedto estimate the frequency of ∆I507 and ∆F508 CFTR gene mutations in Iranian infertilemales. We undertook the first study of association between these CFTR mutations andnon-obstructive azoospermia in Iran.In this case-control study, 100 fertile healthy fathers and 100 non-obstructive azoospermia’smen were recruited from Isfahan Infertility Center (IIC) and Sari Saint Mary’s Infertility Center,between 2008 and 2009. Screening of F508del and I507del mutations wascarried out by the multiplex-ARMS-PCR. Significance of differences in mutation frequenciesbetween the patient and control groups was assessed by Fisher’s exact test. TheΔF508 was detected in three patients. However there are no significant association wasfound between the presence of this mutated allele and infertility [OR=9.2 (allele-based)and 7.2 (individual-based), P=0.179]. None of the samples carried the ΔI507 mutation.Altogether, we show that neither ΔI507 nor ΔF508 is involved in this population of Iranian infertile males with non-obstructive azoospermia.

No MeSH data available.


Related in: MedlinePlus

Detection of ΔF508 CFTR mutation in infertile men by using multiplex-ARMS-PCR. The amplification products of normal primers sets are shown here (N). M indicates the amplification products by IFM and DFM primers. The resulted amplified fragments for a normal and ΔF508 mutant are shown here. Sample I is a wild homozygote, sample II is a mutant homozygote (ΔF508) and sample III is a heterozygote (ΔF508). Fragment sizes are in the base pairs (bp). Marker; 50 bp DNA ladder. N-I; Normal primer sets for sample I, M-I; Mutant primer sets for sample I, N-II; Normal primer sets for sample II, M-II; Mutant primer sets for sample II, N-III; Normal primer sets for sample III, and M-III; Mutant primer sets for sample.
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Figure 2: Detection of ΔF508 CFTR mutation in infertile men by using multiplex-ARMS-PCR. The amplification products of normal primers sets are shown here (N). M indicates the amplification products by IFM and DFM primers. The resulted amplified fragments for a normal and ΔF508 mutant are shown here. Sample I is a wild homozygote, sample II is a mutant homozygote (ΔF508) and sample III is a heterozygote (ΔF508). Fragment sizes are in the base pairs (bp). Marker; 50 bp DNA ladder. N-I; Normal primer sets for sample I, M-I; Mutant primer sets for sample I, N-II; Normal primer sets for sample II, M-II; Mutant primer sets for sample II, N-III; Normal primer sets for sample III, and M-III; Mutant primer sets for sample.

Mentions: Wild-allele specific primers (DFN and FC primers) and ΔF508 mutant-allele specific primers (DFM and FC primers) produce 173 bp and 170 bp fragments, respectively. Amplification of sequence by wild-allele specific primers (IFN and RC primers) and ΔI507 mutant-allele specific primers (IFM and RC) give 123 bp and 120 bp fragments, respectively (Fig .2).


Screening of Two Neighboring CFTR Mutations in IranianInfertile Men with Non-Obstructive Azoospermia
Detection of ΔF508 CFTR mutation in infertile men by using multiplex-ARMS-PCR. The amplification products of normal primers sets are shown here (N). M indicates the amplification products by IFM and DFM primers. The resulted amplified fragments for a normal and ΔF508 mutant are shown here. Sample I is a wild homozygote, sample II is a mutant homozygote (ΔF508) and sample III is a heterozygote (ΔF508). Fragment sizes are in the base pairs (bp). Marker; 50 bp DNA ladder. N-I; Normal primer sets for sample I, M-I; Mutant primer sets for sample I, N-II; Normal primer sets for sample II, M-II; Mutant primer sets for sample II, N-III; Normal primer sets for sample III, and M-III; Mutant primer sets for sample.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5134755&req=5

Figure 2: Detection of ΔF508 CFTR mutation in infertile men by using multiplex-ARMS-PCR. The amplification products of normal primers sets are shown here (N). M indicates the amplification products by IFM and DFM primers. The resulted amplified fragments for a normal and ΔF508 mutant are shown here. Sample I is a wild homozygote, sample II is a mutant homozygote (ΔF508) and sample III is a heterozygote (ΔF508). Fragment sizes are in the base pairs (bp). Marker; 50 bp DNA ladder. N-I; Normal primer sets for sample I, M-I; Mutant primer sets for sample I, N-II; Normal primer sets for sample II, M-II; Mutant primer sets for sample II, N-III; Normal primer sets for sample III, and M-III; Mutant primer sets for sample.
Mentions: Wild-allele specific primers (DFN and FC primers) and ΔF508 mutant-allele specific primers (DFM and FC primers) produce 173 bp and 170 bp fragments, respectively. Amplification of sequence by wild-allele specific primers (IFN and RC primers) and ΔI507 mutant-allele specific primers (IFM and RC) give 123 bp and 120 bp fragments, respectively (Fig .2).

View Article: PubMed Central - PubMed

ABSTRACT

The genetic association between cystic fibrosis transmembrane conductance regulator(CFTR) gene mutations and male infertility due to congenital bilateral absence of vasdeferens (CBAVD) is well established. Mutant CFTR, however may also be involved inthe etiology of male infertility in non-CBAVD cases. The present study was conductedto estimate the frequency of ∆I507 and ∆F508 CFTR gene mutations in Iranian infertilemales. We undertook the first study of association between these CFTR mutations andnon-obstructive azoospermia in Iran.In this case-control study, 100 fertile healthy fathers and 100 non-obstructive azoospermia’smen were recruited from Isfahan Infertility Center (IIC) and Sari Saint Mary’s Infertility Center,between 2008 and 2009. Screening of F508del and I507del mutations wascarried out by the multiplex-ARMS-PCR. Significance of differences in mutation frequenciesbetween the patient and control groups was assessed by Fisher’s exact test. TheΔF508 was detected in three patients. However there are no significant association wasfound between the presence of this mutated allele and infertility [OR=9.2 (allele-based)and 7.2 (individual-based), P=0.179]. None of the samples carried the ΔI507 mutation.Altogether, we show that neither ΔI507 nor ΔF508 is involved in this population of Iranian infertile males with non-obstructive azoospermia.

No MeSH data available.


Related in: MedlinePlus