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Öğe 8q22.3 q24.23 duplication in a patient with oral frenulum and normal intellectual development(BIOMED CENTRAL LTD, 2017) Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Sezgin, Ilhan…Öğe Adult height in Turkish patients with Turner syndrome without growth hormone treatment(TURKISH J PEDIATRICS, 2008) Bereket, Abdullah; Turan, Serap; Elcioglu, Nursel; Hacihanefioglu, Seniha; Memioglu, Nihal; Bas, Firdevs; Bundak, Rueveyde; Darendeliler, Feyza; Guenoez, Huelya; Saka, Nurcin; Ercan, Oya; Arslanoglu, Ilknur; Isgueven, Pinar; Yildiz, Metin; Can, Sule; Oezerkan, Ebru; Coker, Mahmut; Darcan, Suekran; Oezkan, Behzat; Orbak, Zerrin; Oeztas, Sitki; Palanduez, Suekrue; Sezgin, Ilhan; Atabek, Emre; Erkul, Ibrahim; Erdogan, GuerbuezSpontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of non-growth hormone (GH)-treated Turkish patients with TS. One hundred ten patients with TS (diagnosed by karyotype) who reached AH (no growth in the previous year, or bone age > 15 years) without receiving GH treatment were included in the study. The average AH was found to be 141.6 +/- 7.0 cm at the age of 22.9 +/- 6.2 years, which is 18.4 cm below the population average and 16.4 cm below the patients' mid-parental heights. Bone age at start of estrogen replacement was 12.3 +/- 1.3 year. Karyotype distribution of the patients was 45X (43%), 4SX/46XX (16%), 4SX/46xi (12%), 45XiXq (10%) and others (19%). When the patients were evaluated according to their karyotype as 45X and non-45X, no significant difference in AH was observed (142.4 +/- 6.9 cm vs 140.9 +/- 7.1 cm, respectively). Adult height of non-GH-treated Turkish TS patients obtained in this study was comparable to that of other Mediterranean populations, but shorter than that of Northern European patients. Karyotype does not seem to affect AH in TS.Öğe Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population(Aves, 2020) Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin, Meryem; Bagci, GokhanObjective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey. Materials and Methods: A total of 27 patients who were diagnosed with ADPKD were included in this study. Their mean age and body mass indices were determined. The gene variants were analyzed by targeted next-generation sequencing method. Results: In 17 (64.3%) of the 27 patients, the variants were detected in PKD1 and/or PKD2 genes. There were 13 patients (48.1%) with PKD1 gene variants and 5 (18.5%) with PKD2 gene variants. Of the 17 patients, 1 had both PKD1 and PKD2 gene variants. We observed that 16 patients with ADPKD (66.6%) had hypertension, and liver cysts were detected in 9 (33.3%) patients. Conclusion: PKD1 gene mutations were found in a significant number of patients with ADPKD, and hypertension is a frequently observed finding in them. In some patients, liver cysts may accompany the clinical picture of ADPKD. Our findings provide important insights for the genetic counseling of these patients.Öğe ANGIOTENSIN CONVERTING ENZYME (ACE) GENE POLYMORPHISM AND BUERGER'S DISEASE(JOHN WILEY & SONS INC, 2009) Ozen, Filiz; Kocak, Nadir; Ozdemir, Ozturk; Sezgin, Ilhan…Öğe Associations of fractalkine receptor (CX3CR1) and CCR5 gene variants with hypertension, diabetes and atherosclerosis in chronic renal failure patients undergoing hemodialysis(SPRINGER, 2016) Bagci, Binnur; Bagci, Gokhan; Huzmeli, Can; Sezgin, Ilhan; Ozdemir, OzturkWe aimed to investigate the associations of fractalkine receptor (CX3CR1) V249I, T280M and CCR5-59029 A/G gene polymorphisms in chronic renal failure (CRF) subjects undergoing hemodialysis and to evaluate possible associations of these polymorphisms with hypertension (HT), diabetes mellitus (DM) and atherosclerosis (AS). A total of 225 CRF subjects undergoing hemodialysis and 201 healthy controls were enrolled in the study. CRF subjects were divided into three major subgroups according to comorbidities including HT (n = 127), DM (n = 65) and AS (n = 33). Genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. The II genotype and I allele frequencies of CX3CR1 V249I polymorphism were found significantly more frequent in CRF subjects, CRF subjects with DM and CRF subjects with AS compared with controls (p < 0.05 for all comparisons). G allele frequency of CCR5 polymorphism was found significantly more prevalent in CRF subjects with DM than that of controls. Further, GG genotype and G allele frequencies of CCR5 polymorphism were significantly more prevalent in CRF subjects with AS compared with controls (p < 0.05). We also explored these polymorphisms among CRF subjects with and without following comorbidities: HT, DM, AS. We found significant association between CRF subjects with HT and without HT in terms of genotype and allele frequencies of V249I polymorphism (p < 0.05). CX3CR1 T280M polymorphism was not found significantly different in none of the comparisons. These data demonstrate possible associations between CX3CR1 V249I and CCR5-59029 A/G polymorphisms and/or HT, DM and AS in CRF subjects.Öğe C, G and Restriction Endonuclease (Alu I, Nhe I, Hae III, Mbo I, Hinf I) Banding of the Chromosomes in Chalcalburnus tarichi (PALLAS 1811) Endemic to Lake Van(2003) Gül, Süleyman; Çolak, Ahmet; Sezgin, Ilhan; Kalo?lu, BertalKaryotype analysis was performed in Chalcalburnus tarichi specimens by investigating the number and structures of their chromosomes. The fish used in this study were caught with fishing nets from Lake Van and taken to the laboratory. The fish were injected i.p. with 0.01 ml/g body weight doses of a 0.6% solution of a colchicine for 190 min. As a result of the metaphase investigation we determined that C. tarichi had 2n = 50 chromosomes. Their karyotypes were determined to be composed of 8 metacentric, 5 submetacentric and 12 acrocentric chromosome pairs. We were unable to identify any sex-related chromosomes in this species. C. tarichi chromosomes were treated with 5 restriction endonucleases stained with Giemsa and examined for banding patterns. The enzymes Alu I revealed banding patterns similar to the C-bands produced by treatment with barium hydroxide. The enzymes Hae III, Hint I, Nhe I and Mbo I revealed banding patterns similar to those of G-bands. The restriction endonucleases markedly reduced the extent of Giemsa staining.Öğe CCR2 Polymorphism in Chronic Renal Failure Patients Requiring Long-Term Hemodialysis(JAPAN SOC INTERNAL MEDICINE, 2011) Sezgin, Ilhan; Koksal, Binnur; Bagci, Gokhan; Kurtulgan, Hande Kucuk; Ozdemir, OzturkObjective A number of chemokines and chemokine receptors are produced by intrinsic renal cells as well as by infiltrating cells during renal inflammation. The CCR2 chemokine receptor mediates leukocyte chemoattraction in the initiation and amplification phase of renal inflammation. The polymorphism, CCR2-V64I, changes valine 64 of CCR2 to isoleucine. We aimed to determine the frequency of CCR2-V64I polymorphism in patients with chronic renal failure requiring long-term hemodialysis. Methods and Patients The PCR-based restriction fragment length polymorphism (PCR-RFLP) technique was used to assess the gene frequencies of CCR2-641 in CRF patients (n=210) and healthy controls (n=139) in the current study. Results The frequencies of the CCR2 genotype were 0.68 for V/V, 0.28 for V/I, and 0.4 for I/I in the CRF patients and 0.81 for V/V, 018 for V/I and 0.1 for I/I in healthy controls. The distribution of the CCR2-V64I mutant genotype was significantly different between subjects with CRF and healthy control subjects (X2=7.197 and p=0.027). Conclusion We found that the CCR2-V64I polymorphism was significantly high in CRF patients. In addition to the contribution to disease pathogenesis, it was recently found that chemokines have therapeutic importance in chronic renal failure. The frequency of CCR2-V64I and other chemokine and chemokine receptor polymorphisms in renal pathologies must be further investigated in larger study populations and in different renal diseases.Öğe CRUCIAL ROLE OF PARENTAL MTHFR GENE POLYMORPHISM INVOLVED IN HOMOCYSTEINE/METABOLISM IN DOWN SYNDROME(WILEY-BLACKWELL, 2009) Kocak, Nadir; Ozen, Filiz; Kesli, Recep; Sezgin, Ilhan; Ozdemir, Ozturk…Öğe Dental Findings in Cornelia De Lange Syndrome(YONSEI UNIV COLL MEDICINE, 2009) Toker, Aslihan Soyal; Ay, Sinan; Yeler, Hasan; Sezgin, IlhanCornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.Öğe Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis(SPRINGER LONDON LTD, 2017) Huzmeli, Can; Candan, Ferhan; Bagci, Gokhan; Alaygut, Demet; Yilmaz, Ali; Gedikli, Asim; Bagci, Binnur; Timucin, Meryem; Sezgin, Ilhan; Kayatas, MansurPrimary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 +/- 13.4 (range 18-69), 35 of patients were female and 29 of patients were male. Of the 64 patients, 17 were mesangial proliferative glomerulonephritis (MsPGN), 15 were IgA nephropathy (IgAN), 12 were membranous glomerulonephritis (MGN), 11 were focal segmental glomerulosclerosis (FSGS), three were membranous proliferative glomerulonephritis (MPGN), three were immune complex glomerulonephritis (ICGN), two were minimal change disease (MCD), and one was IgM nephropathy (IgMN). MEFV gene mutation was detected in 35.9% (23) of these patients. The most frequently detected mutations were E148Q and M694V. Twelve cases (18.75% of GN patients) with MEFV gene mutation were diagnosed as FMF phenotype I. The frequency of MEFV gene mutation was detected at a high rate of 35.9%. Further studies with larger populations are needed to clarify the importance of these mutations on clinical progression of glomerulonephritis.Öğe Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers(SPRINGER, 2011) Ozdemir, Ozturk; Sezgin, Ilhan; Kurtulgan, Hande Kucuk; Candan, Ferhan; Koksal, Binnur; Sumer, Haldun; Icagasioglu, Dilara; Uslu, Atilla; Yildiz, Fazilet; Arslan, Sulhattin; Cetinkaya, Selma; Citli, Senol; Oztemur, Zekeriya; Kayatas, MansurThe Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.Öğe Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia(K Faisal Spec Hosp Res Centre, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Ozdemir, Ozturk; Kilicgun, Hasan; Aydemir, Didem S.; Baser, Burak; Sezgin, IlhanBACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with El 480, V726A and R761 H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group.Öğe The protective effect of MCP-1-2518 A > G promoter polymorphism in Turkish chronic renal failure patients requiring long-term hemodialysis(SPRINGER, 2015) Bagci, Binnur; Bagci, Gokhan; Candan, Ferhan; Ozdemir, Ozturk; Sezgin, IlhanMonocyte chemoattractant protein-1 (MCP-1) plays a major role in the pathogenesis and progression of different types of human renal disease. Therefore, in this study, we aimed to investigate the effect of MCP-1 gene -2518 A > G promoter polymorphism in chronic renal failure (CRF) patients requiring long-term hemodialysis. The study population consisted of 201 adult CRF patients requiring long-term hemodialysis and 194 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping of MCP-1 -2518 A > G polymorphism in the CRF patients and healthy controls. There were statistically significant differences in terms of genotypic (chi (2) = 12.69, p = 0.02) and allelic (chi (2) = 5.72, p = 0.02) frequencies of MCP-1 -2518 A > G between CRF patients and control subjects. According to our results, in the patient group MCP-1 -2518 AA genotype frequency was significantly higher than that of control group. On the other hand, heterozygous AG genotype frequency in the control group was significantly higher than that of the study group. Three different main disease subgroups of CRF (hypertension, diabetes mellitus, and atherosclerosis) patients were also evaluated, and significant associations were found between hypertension (genotype: chi (2) = 9.28, p = 0.01; allele: chi (2) = 6.00, p = 0.01), atherosclerosis (genotype: chi (2) = 5.37, p = 0.02; allele: chi (2) = 4.13, p = 0.04), and distributions of MCP-1 -2518 A > G genotypes and alleles. However, no significant association was found between diabetes mellitus and distributions of MCP-1 -2518 A > G genotype and allele frequencies (genotype: chi (2) = 2.37, p = 0.3; allele: chi (2) = 1.88, p = 0.17). Current data show that MCP-1 -2518 AA genotype may cause susceptibility to CRF, while G allele may have a protective effect against development of CRF. In addition, MCP-1 -2518 AA genotype seems to associate with CRF originated from hypertension and atherosclerosis in our study population.Öğe Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion(BIOMED CENTRAL LTD, 2015) Kurtulgan, Hande Kucuk; Ozer, Leyla; Yildirim, Malik Ejder; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Akkus, Nejmiye; Sezgin, IlhanBackground: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Case Presentation: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. Conclusions: Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000bp)x3.Öğe Role of MTHFR gene polymorphisms, serum tissue inhibitor of metalloproteinases-1, thymus chemokine-1 and thrombospondin-1 in endometrial cancer(E-CENTURY PUBLISHING CORP, 2016) Yildirim, Malik Ejder; Kilicgun, Hasan; Kurtulgan, Hande Kucuk; Karakus, Savas; Ersan, Serpil; Bakir, Sevtap; Sezgin, IlhanThe aim of this study was to evaluate the relationship between the MTHFR gene variants (677 C -> T and 1298 A -> C), serum tissue metalloproteinases inhibitor (TIMP-1), thrombospondin-1 (TSP-1), thymus chemokine-1 (TCK-1) levels and endometrial cancer. Sixty women were chosen from endometrial cancer patients and fifty-six women without any systemic disease were included as the control group. MTHFR C677T and A1298C MTHFR polymorphisms and their allele frequencies were evaluated with strip assay (Reverse hybridization method). Serum tissue inhibitor of metalloproteinases-1, thymus chemokine-1, and thrombospondin-1 levels were measured with the enzyme-linked immunosorbent assay (ELISA). Genotypic distribution and allelic frequencies of MTHFR C677T polymorphism were not associated with endometrial cancer (P>0.05). But, genotypic distribution and allelic frequencies of MTHFR A1298C polymorphism were strongly associated with endometrial cancer (P = 0.047 and P = 0.024). On the other hand, tissue inhibitor of metalloproteinases-1, thrombospondin-1, and thymus chemokine-1 levels were strongly associated with endometrial cancer (P = 0.001, P = 0.02, and P = 0.001 respectively). These results indicate that genotypic distribution and allelic frequencies of MTHFR A1298C polymorphism, tissue inhibitor of metalloproteinases-1, thrombospondin-1 and thymus chemokine-1 may be the prognostic markers in endometrial carcinoma.Öğe The Role of the CCR2 Gene Polymorphism in Abdominal Aortic Aneurysms(SAGE PUBLICATIONS INC, 2011) Katrancioglu, Nurkay; Manduz, Sinasi; Karahan, Oguz; Yilmaz, Mehmet Birhan; Sezgin, Ilhan; Bagci, Gokhan; Berkan, OcalObjective: Chronic inflammation play an important role on abdominal aortic aneurysms (AAA) formation. Chemokine receptor-2 (CCR2) is involved in regulation of the inflammatory response. However, relation between CCR2 polymorphism and AAA formation in human has not yet been investigated. In this study, we aimed to investigate the relationship between AAA and CCR2-V64I gene polymorphism. Methods: In this study, 100 consecutive patients with AAA and 138 individuals with normal aortic diameter were included. CCR2-V64I gene polymorphism were analyzed by PCR-RFLP technique. Genotype distribution and allele frequencies of CCR2-V64I gene polymorphism in patients with AAA and healthy subjects were compared. Results: CCR2 heterozygote V64I polymorphism and allele frequency were more frequently observed in the AAA group (p = 0.01, p = 0.004). Significant relationship was observed between CCR2 V64I polymorphism (OR:2.31, 95% CI:1.19-4.46, p = 0.01) and presence of AAA in multivariate regression analysis. Conclusion: The present study, showed us a relationship between CCR2-V64I polymorphism and AAA.Öğe THE ROLE OF THE CCR2 GENE POLYMORPHISM IN ABDOMINAL AORTIC ANEURYSMS(KARGER, 2010) Katrancioglu, Nurkay; Manduz, Sinasi; Karahan, Oguz; Sezgin, Ilhan; Bagci, Gokhan; Berkan, Oecal…Öğe The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas(Aves, 2019) Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; Sezgin, IlhanOBJECTIVES: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for cases who were found to have mutation, and to contribute to decrease the frequency of mutant allele in the next generation and plan treatment and rehabilitation with early diagnosis. MATERIALS and METHODS: The study included 53 unrelated cases that were diagnosed with congenital NSHL between June 2009 and March 2010. Multiplex ligation-dependent probe amplification method was used for genotyping of GJB2, GJB3, and GJB6 gene mutations. RESULTS: Heterozygous 35delG variant was determined in 1,9% (n=1) of cases, homozygous 35delG in 15.1% (n=8), heterozygous IVS1+1G>A mutation in 1.9% (n=1), compound heterozygous in 3.8% (n=2), and homozygous IVS1+1G>A variant in 3.8% (n=2). None of the cases had mutation in GJB3 and GJB6 genes. Mutated allele frequencies in the present study were found to be 17.9% for 35delG and 6,6% for IVS1+1G>A. CONCLUSION: The present study showed that 35delG mutation is the most common variant in the Sivas region, and that IVS1+1G>A mutation should be investigated in hearing loss. Another result of the present study was that genetic analyzes would allow early diagnosis of hearing impairments particularly when infants whose parents have consanguinity do not pass the newborn hearing screening.Öğe The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study(Elsevier Masson, Corp Off, 2019) Yildirim, Malik Ejder; Karakus, Savas; Kurtulgan, Hande Kucuk; Baser, Burak; Sezgin, IlhanObjective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey. Materials and medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study. Chromosome analysis was performed after the preparation of lymphocyte culture with the standard method. Karyotype analyses were supported by FISH and aCGH studies. Results: Total 26 chromosome abnormalities (8.7%) were found in the couples (19 females and 7 males). Fifteen cases (57.7%) were structural anomalies and eleven cases (42.3%) were numerical chromosomal aberrations. We detected 5 balanced translocations (33.3%), 4 Robertsonian translocations (26.7%), 3 inversions (20%), 2 duplications (13.3%) and one deletion (6.7%) among the structural anomalies. Mosaic monosomy X in five cases (45.4%), the combination of mosaic monosomy-trisomy X in three cases (27.3%), the combination of mosaic monosomy-trisomy and tetrasomy X in two cases (18.2%) and mosaic pentasomy X in only one individual (9.1%) were encountered as numerical chromosome aberrations. 19 cases had heterochromatic changes or other chromosomal variations (satellite increments and inv9). Conclusion: Chromosome analysis in couples with recurrent miscarriage is necessary for possible preimplantation genetic diagnosis. As well as numerical and structural chromosome abnormalities, some chromosomal variations (heterochromatin and satellite increments etc.) may also contribute to recurrent miscarriages. Numerical chromosomal abnormalities are often associated with sex chromosomes and usually seen in females. (C) 2019 Elsevier Masson SAS. All rights reserved.Öğe VEGF, sVEGFR-1 and Endostatin Serum Levels and VEGF Polymorphisms in Recurrent Aphthous Stomatitis(DERMAN MEDICAL PUBL, 2016) Yuce, Salim; Bagci, Binnur; Bagci, Gokhan; Dogan, Mansur; Koc, Sema; Sezgin, Ilhan; Candan, Ferhan; Uysal, Ismail OnderAim: Recurrent aphthous stomatitis (RAS) is one of the most frequent diseases of the oral mucosa, characterized by chronic, painful, recurrent, and necrotizing ulcerations. The precise etiology and pathogenesis of RAS have not been clarified. Therefore. we aimed to investigate serum levels of VEGF. sVEGFR-1, and endostatin as well as the frequencies of VEGF +936 C/T and -1154 C/A single nucleotide polymorphisms (SNPs) in Turkish patients with recurrent aphthous stomatitis. Material and Method: Forty-two patients with RAS (24 minor RAS and 18 major RAS) and 37 healthy subjects were included in the study. Serum levels of VEGF, sVEC FR-1, and endostatin were measured using the ELISA method. VEGF +936 C/T and-1154 C/A SNPs were determined by the PCR-RFLP method. Results: The mean serum level of VEGF was found higher in bearing CC genotype of +936 CFI SNP compared with CT genotype (639.5 +/- 309.1 vs 442.1 +/- 197.8: p = 0.032). VEGF-1154 GA genotype was found to be more frequent in patients with minor RAS and GG genotype was more frequent in patients with major RAS (p = 0.022). There was a significant difference between minor RAS and major RAS with regard to mean VEGF serum levels (677.1 +/- 316.7 vs 492.9 +/- 242.7; p = 0.032). Discussion: The T allele of +936 C/T SNP is associated with decreased serum VEGF level, and this decrease may have a contributory role in impaired neovascularization and re-epithelialization in the etiology and pathogenesis of RAS. Further studies are needed to determine the role of VEGF in RAS susceptibility and its clinical manifestations.
