Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. The aim of this retrospective study was to investigate novel gene variants and evaluate the utility of whole-exome sequencing in patients with retinitis pigmentosa.

Objective: The current study aimed to retrospectively evaluate different diag- nostic approaches for the array genetic analysis of the cases from all trimester fetal loss in the medical genetics clinic between 2016 and 2017. The Quantitati- ve Fluorescent Polymerase Chain Reaction(QFPCR) test was performed on 50 samples, and aneuploidy was detected in 11 samples as a result of the test, and the array-CGH was performed when 39 QF-PCR resulted in normal test results. Under this purpose, we aimed to analyze and determine the possible copy num- ber variation(CNV), gene deletions, and/or duplications involved in embryonic cell division, tissue differentiation, intended.Materials and methods: DNA isolation from cases of this retrospective study was completed using the PureLink Genomic DNA isolation kit. DNA samples were then genoty - ped for molecular etiological reasons by oligonücleotid microarray -CGH method (aCGH , 60 K ISCA design , Agilent , Germany ). Hybridized probe correlations of the case and reference DNAs were evaluated with databases (Database of Genomic Variants Analysis ) used in genomic variation analysis in terms of 54 functional genes CNVs associated with intrauterine losses.Results: CNV was detected in 30 (77%) of 39 fetal samples analyzed within the scope of the research. Fifty-five percent of CNVs were found to be duplication (55%) and forty-five percent were deletions (45%). As a result of the evaluation, deletion was detected in 19 (35%) of 54 genes, duplication was detected in 26 (48%), while in 3 (6%) both deletion and duplication were detected. Although CNV detected in autosomal chromosomes (chromosome 1, 2, 3, 4, 5, 7, 8, 10, 12, 13, 14, 15 and 20), CNV was established the most common in X chromosome. In our study, CNVs associated with COX7B, ZIC1, MECP2, FMR1, HOXD13, JAG1, MSX2, NEXN, and SIX3 genes were found to be more frequent in terms of fetal loss etiology.Conclusions: Based on our experience, the array-CGH method can be used to investigate the etiology of the normal results of QF-PCR in cases of fetal loss. The array CGH method will be preferred more and more due to the ease of application and the data obtained. When we look at the literature, it is seen that there is not enough research on array CGH about fetal loss and more studies are needed to increase the experience in this field.

AMAÇ: JAK2V617F mutasyonu pozitifliği kronik miyeloproliferatif neoplazilerin (KMPN) tanısı için ana kriterdir. Mutasyon yükünün belirlenmesi çoğu moleküler laboratuvarda standart bir tanı prosedürü haline gelmiştir, ancak KMPN tanısı için bir sınır değer belirtilmemektedir. Burada, JAK2V617F mutasyon yükü düşük ve yüksek olan miyeloproliferatif neoplazi ön tanılı hastaların klinik ve hematolojik parametreler açısından karşılaştırılması amaçlandı. GEREÇ VE YÖNTEM: Sağlık Bilimleri Üniversitesi Antalya Eğitim ve Araştırma Hastanesi tıbbi genetik kliniğinde 2019 - 2021 yılları arasında JAK2V617F mutasyonu pozitif olan 95 hasta retrospektif olarak analiz edildi. BULGULAR: Allel yükü düşük (≤%3) olan 46 hastanın %64'ü KMPN fenotipine sahipken, yüksek allel yükü (>%3) olan 49 hastanın %100'ü KMPN fenotipine sahipti. Her iki grup arasında eritrosit sayısı, hemoglobin düzeyi, ortalama eritrosit hacimleri arasında istatistiksel bir fark bulunmazken; lökosit, nötrofil ve trombosit yüksekliği JAK2V617F allel yükü >%3 olan grup lehine istatistiksel olarak anlamlı bulundu (p=0.007; p<0.001; p%3 olan tüm hastalara KMPN tanısı konulmuştur; bu nedenle, bu sınırın üzerindeki bir mutasyon yükü, miyeloproliferatif bir hastalığın varlığın göstergesi olarak kabul edilebilir. Düşük allel yüklü JAK2V617F mutasyonuna yaklaşımı tanımlamak için standardize edilmiş moleküler yöntemlerle prospektif olarak incelenen daha büyük hasta gruplarına sahip çalışmalara ihtiyaç vardır.

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) Case2: Ten-week embrio of 34-year-old female, infertile for ten years before and this is her first pregnancy after IVF, revealed the deletion of POM121,POM121C and ZP3 genes with the same array-CGH platform. Conclusion: We have evaluated the deletion of two consecutive genes -UPK3B and ZP3- in the genome by array-CGH analysis. Early abortion or infertility due to triploidic, tetraploidic embryos or uniparental disomy, resulting in a change in the structure of the zona pellucida with the mutations of ZP3 gene, may occur. Also mutations of UPK3B gene may cause abortion or infertility due to endometrial origin with defective function of the urothelium membrane proteins. ICSI could be a good choice for ZP3 deficient infertile woman and if PGS choosen without ICSI, uniparental disomia should be excluded. 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) Case2: Ten-week embrio of 34-year-old female, infertile for ten years before and this is her first pregnancy after IVF, revealed the deletion of POM121,POM121C and ZP3 genes with the same array-CGH platform. Conclusion: We have evaluated the deletion of two consecutive genes -UPK3B and ZP3- in the genome by array-CGH analysis. Early abortion or infertility due to triploidic, tetraploidic embryos or uniparental disomy, resulting in a change in the structure of the zona pellucida with the mutations of ZP3 gene, may occur. Also mutations of UPK3B gene may cause abortion or infertility due to endometrial origin with defective function of the urothelium membrane proteins. ICSI could be a good choice for ZP3 deficient infertile woman and if PGS choosen without ICSI, uniparental disomia should be excluded.

Background: Only a limited number of studies have investigated CFTR mutation status in non-obstructive infertile men. The aim of the present study was to evaluate the presence, frequency, and spectrum of CFTR mutations in infertile men diagnosed with non-obstructive oligozoospermia and azoospermia. Methods: A total of 98 infertile men were included in this study. Based on semen analysis according to the 2021 World Health Organization (WHO) criteria, patients were classified into two groups: severe oligozoospermia and azoospermia. All patients had normal karyotype results and were negative for Y chromosome microdeletions. CFTR gene analysis was performed using both direct sequence analysis and multiplex ligation-dependent probe amplification (MLPA). Statistical analyses were carried out with SPSS version 22.0 (IBM Corp., Armonk, NY, USA). A p value < 0.05 was considered statistically significant. Results: Among the study population, 31 patients (48.1%) had non-obstructive severe oligozoospermia and 67 patients (51.9%) had non-obstructive azoospermia. In total, 25 distinct CFTR mutations were identified in 27 patients (27.5%). The most frequent variant was IVS8-5 T (n = 3). Missense variants were the most common mutation type. Additionally, an exon 2 deletion was detected in one azoospermic patient by MLPA. No significant difference in CFTR mutation frequency or zygosity status (heterozygous vs. homozygous) was observed between the two groups. Conclusion: Our findings suggest that all men with non-obstructive infertility should be screened for CFTR mutations. Comprehensive testing combining CFTR sequence analysis with MLPA provides a more accurate genetic evaluation compared to limited mutation screening.

Objective: The aim of this study is to determine whether there is a genetic predisposition in young patients with transitional cell carcinoma (TCC) of the bladder. Material And Methods: Data were collected from a total of 652 patients who underwent transurethral resection of bladder tumor (TUR-BT) between January 2010 and January 2021. Seven patients under the age of 40, non-smokers, and without occupational predisposing factors to urinary tract TCC were included in the study. Age, body mass index (BMI), sex, occupation, and five-year follow-up were collected retrospectively. A total of 403 cancer-related genes were analyzed from the patients’ blood samples. The Clinical Exome Sequencing test was used to identify genetic mutations. Results: Six of the patients were male and one patient was female. The mean age and BMI were 31.42 ± 2.12 (22-39) years and 21.72 ± 33.14 (22-27.7) kg/m2, respectively. None of the patients had a first-degree relative with urinary tract TCC. Of all the patients, only one patient had a deletion of exons 1 to 17 in the breakpoint cluster region gene. Conclusion: Genetic predisposing factors in young bladder TCC have not been clearly identified. Although our study included a limited number of patients, our results showed no genetic predisposition in young patients with bladder TCC without family history of bladder cancer. To evaluate the exact relationship, prospective randomised controlled trials with larger numbers of patients are needed.