Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia / 대한생식의학회지

Objective@#Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. @*Methods@#We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. @*Results@#The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). @*Conclusion@#These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

Identification of a novel compound heterozygous mutation in BBS12 in an Iranian family with bardet-biedl syndrome using targeted next generation sequencing

Bardet-Biedl syndrome [BBS] is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. This disorder is genetically heterogeneous. Until now, a total of nineteen genes have been identified for BBS whose mutations explain more than 80% of diagnosed cases. Recently, the development of next generation sequencing [NGS] technology has accelerated mutation screening of target genes, resulting in lower cost and less time consumption. Here, we screened the most common BBS genes [BBS1-BBS13] using NGS in an Iranian family of a proposita displaying symptoms of BBS. Among the 18 mutations identified in the proposita, one [BBS12 c.56T>G and BBS12 c.1156C>T] was novel. This compound heterozygosity was confirmed by Sanger sequencing in the proposita and her parents. Although our data were presented as a case report, however, we suggest a new probable genetic mechanism other than the conventional autosomal recessive inheritance of BBS. Additionally, given that in some Iranian provinces, like Khuzestan, consanguineous marriages are common, designing mutational panels for genetic diseases is strongly recommended, especially for those with an autosomal recessive inheritance pattern

[Correlation of helicobacter pylori vac A s, m region genotypes with different gastrodoudenal diseases in east Azerbaijan patients]

Gastric adenocarcinoma has been considered as an infectious disease since 1994, when the Helicobacter pylori [H. pylori] infection categorized as a definite class I human carcinogen. H. pylori uses extensive numbers of virulence factors to overcome host defence mechanisms. One independent H. pylori factor that plays an important role in determining H.pylori pathogenesis is vacuolating cytotoxin A[vacA].The purpose of this study was to investigate the frequency of vacA Genotypes, and also its association with disease outcome in infected patients. Antral gastric biopsy materials were collected from 88 patients with different gastroduodenal diseases. Genotyping of the VacA alleles were determined by PCR methods. Of 64 H.pylori positive patients, 38 were classified as gastritis, 11 as peptic ulcer, and 15 as gastric adenocarcinoma. Four Vac A genotypes were observed, including 20 [22.7%] for s1/m2 [with frequency of relatively equal in all groups], 12 [13.6%] for s1m1 [with the highest frequency in gastric adenocarcinoma and peptic ulcer], 7 [7.95%] for s2m2 [with the highest frequency in gastritis] and 3 [3.4%] for s2m1 [with the highest frequency in peptic ulcer]. In this study, no significant relationship was observed between the different genotypes of the vacA and the clinical outcome. Gastric adenocarcinoma also showed significant association with age and gender