L138ins Variant of the CFTR Gene in Russian Infertile Men

(1) Introduction: Pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic (CF, 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due to congenital bilateral aplasia of vas deferens (CBAVD, 277180) male patients. The L138ins (c.413_415dup; p. (Leu138dup)) is a mild variant that relatively common among CF-patients Slavic populations. frequency this Russian infertile men has not been sufficiently studied; (2) Materials Methods: sample consisted 6033 men. patients were tested for 22 populations pathogenic IVS9Tn-polymorphic locus intron 9. Molecular-genetic studies performed using amplified fragment length polymorphism (AFLP-PCR), multiplex ligation-dependent probe amplification (MLPA), nested PCR (for analysis locus); (3) Results: detected 3.9% most frequent F508del CFTRdele2.3(21kb), accounted 61.0% 7.1% variants, respectively. was 17 (0.28%) individuals: one them homozygous, 10 heterozygous, 6 compound-heterozygous (F508del/L138ins, n = 4; L138ins/N1303K, 1; L138ins/5T, 1). Two CF-causing 8 patients, including 7 compound heterozygous F508del/N1303K, 2184insA/E92K, 3849+10kbC>T/E92K, 1) homozygous (L138ins/L138ins). found out 16 (43.75%) chromosomes six these variant, F508del, identified five them, 5 (31.25%) chromosomes. allele (AF) be 0.0014.; (4) Conclusions: third after CFTRdele2.3(kb)