Baris Paksoy

The prevelance of human papillomavirus (HPV) genotypes detected by PCR in women with normal and abnormal cervico-vaginal cytology

OBJECTIVES Cervical cancer is the second most common type of cancer for women worldwide with a great proportion proved to be related to human papillomavirus (HPV) infection. As infection with HPV is the strongest risk factor for cervical neoplasia, detection of HPV genotypes in cervical and vaginal specimens of women with normal and abnormal cytology seems to be of paramount importance in cervical cancer screening. The objective of the study is to evaluate the prevalence and HPV genotypes among women with normal or abnormal Pap smear tests. MATERIAL AND METHODS This retrospective study was conducted in a tertiary care university hospital in western Turkey. A total of 201 patients in whom both HPV typing and Pap test was performed between 2012 and 2016 in our obstetrics and gynecology department were enrolled in this study. Clinical and laboratory data were obtained for all participants. Cervical smears of the patients were classified by the Bethesda system and HPV analyses were done using the polymerase chain reaction (PCR) method. RESULTS This study included 201 women, 72 of whom had normal and 129 of whom had abnormal Pap smear results. HPV DNA was detected in 91 (45.2%) of the 201 investigated women. Out of 72 patients with normal cervico-vaginal cytology, HPV positivity was detected in 35 (49%) patients, whereas 33 (35%) patients out of 94 with ASCUS , 18 (62%) patients out of 29 with LSIL and 5 (83%) patients out of 6 with HSIL had HPV positivity. Out of 35 HPV positive women that had normal pap test results, 25 (75%) were found to have high risk HPV (HR-HPV) genotypes. In women with ASCUS, LSIL and HSIL, HR-HPV genotype rates were found to be 94%, 89% and 100% respectively. The most common identified HPV types were HPV58, HPV16, HPV31, HPV33, HPV11 and HPV35. CONCLUSIONS The frequency of HPV infection was found to be higher in our study compared to previous reports. Moreover, although HR-HPV genotypes were also detected in patients with normal cervical cytology, a majority of patients with HR-HPV genotypes were associated with abnormal cervical smear cytology including high rates of atypical squamous cells of undetermined significance, low-grade squamous intraepithelial lesion, and high-grade squamous intraepithelial lesion.

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