Taner Karakaya

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Objective: Structural Y chromosome abnormalities such as; DAZ, AZF and sY152 deletion play a key role in the genetic etiology of male infertility. Here we used comparable techniques to determine the characteristics of Y chromosome microdeletions and/or duplications in an infertile man in the current report. Methods: In the diagnosis of the current case, we used and compared different well optimised techniques such as; standard cytogenetic C and GTG banded karyotypes, flourescence in-situ hybridization (FISH), QF-PCR, a multiplex fragman PCR analysis for standarized of eigth sequence-tagged site (STS) and microarray comparative genomic hybridization (aCGH) methods for detection of Y chromosome duplications and microdeletions. Results: In the current thirty-year-old infertile male report, we present a detailed molecular-cytogenetic characterization of an individual with mosaicism involving an isodicentric Y chromosome and some phenotypic features. He was in tall stature, microtestis, delayed speech and increased gonadotropins (levels) [(FSH(20 miU/ ml, N:1.5-12,5), LH(15.3 miU/ml, N:1.8-9) and prolactin (15 ng/ml, N:4-16)] and azoospermia clinically. He was identified mos46,X,idic(Y)(pter->q12::q12->pter) (92)/45,X(8) karyotype after comparable refine genetic methods. SRY, SHOX and amelogenin genes were duplicated and AZF, C band positive region of q arm were deleted in the current azoospermic male. Conclusion: The comparable multiplex QF-PCR, karyotyping and microArray-CGH techniques are capable to detect all structural Y chromosome anomalies in diagnosis and prior to artificial reproduction techniques (ART) in male infertility. Correspondence to: Ozturk Ozdemır, Faculty of Medicine, Department of Medical Genetics, Canakkale Onsekiz Mart University, 17100, Canakkale, Turkey, Tel: +90 286 2180018/2107, E-mail: ozdemir615@yahoo.com

The GJB2 gene mutation profiles in hearing ımpaired patients from Western Turkey, Canakkale

It is reported that 60% of congenital bilateral sensorineural hearing loss is caused by genetic factors, and half of hearing loss at a later stage is due to a single gene mutation. In this study; it is aimed to investigate the hearing loss molecular etiology of GJB2 gene mutations in patients with hearing loss. Forty-six patients who had 90 decibels and above-bilateral sensorineural hearing loss were included. DNAs of the patients were isolated from peripheral blood-EDTA samples. By using PCR primers, specific for the 1st and 2nd GJB2 gene regions, changes in the selected gene regions were investigated by DNA sequence analysis. When 46 patients with hearing loss (5 female, 41 male) were examined, pathological variation was found in 6 patients (13%) and any variation was found in 11 patients (24%). Mutations detected in the cases include heterozygous 35delG (a frameshift mutation in GJB2), heterozygous V153I and V27I (missense mutations in GJB2); and the homozygous H100P variation. No mutation was detected in the 1st exon of GJB2 gene. In the second exon of GJB2 gene; heterozygous 35delG mutation in 2 patients (4.3%), the heterozygous V27I mutation in 2 patients (4.3%), the heterozygous V153I mutation in 2 patients (4.3%) and homozygous H100P alteration in 33 patients (71.7%) were found. The variation we most frequently observed in cases following GJB2 gene sequencing was homozygous H100P alteration; This variation was assessed as polymorphism (71.7%). However, in order to determine if this variation might be related to hearing loss, it was planned to determine the presence of the H100P alteration in control group with complete healthy hearing. Correspondence to: Prof. Fatma Sılan, Canakkale Onsekiz Mart University, Faculty of Medicine, Department of Medical Genetics, 17100, Canakkale, Turkey, Tel: +90 286 2180018/2107, E-mail: fsilan@yahoo.com

Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?

Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by ZP3(Zona pellucida3) gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. UPK3B(Uroplakin 3B), a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b(UPK1B), one of the major conserved urothelium membrane proteins. We herein report two cases presenting with the deletions encompassing POMZP3, UPK3B, ZP3, POM121 and POM121C genes. Case1: 25-year-old female presented to our clinic with recurrent pregnancy loss. After clinical and cytogenetic evaluation, which all of them do not feature, she was diagnosed as the deletion of POMZP3 and UPK3B genes with the array-CGH platform. (Agilent SurePrintG3 HumanCGH 60K) ‡ ‡ ‡ ‡ ‡ ‡