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Özgöz, A (Ozgoz, Asuman) ; Samli, H (Samli, Hale) ; Öztürk, KH (Ozturk, Kuyas Hekimler) ; Orhan, B (Orhan, Bulent) ; Içduygu, FM (Icduygu, Fadime Mutlu) ; Aktepe, F (Aktepe, Fatma) ; Imirzalioglu, N (Imirzalioglu, Necat)
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JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
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Translate Introduction: Polymorphisms in FGFR2 are important markers for breast cancer susceptibility in the general population. CHEK2 and FGFR2 polymorphisms with known susceptibility alleles of BRCA1, BRCA2, PTEN, and TP53, can be investigated as potential modifiers of high penetrant risk alleles. Although the B7-H4 gene is highly expressed in many different tumors, there is one published study showing the association of polymorphisms with breast cancer. We aimed to investigate FGFR2 and B7-H4 polymorphisms in breast cancer in the Turkish community. Materials and Methods: In a group of 31 cases diagnosed with breast cancer and 30 healthy women with matched ages, the single-nucleotide polymorphisms (SNPs) rs1219648, rs2981582 in FGFR2 gene were identified by sequence analysis and the SNPs rs10754339, rs10801935, and rs3738414 in the B7-H4 gene were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed using SPSS. Results: Although statistically not significant, the frequency of FGFR2 heterozygous polymorphisms in the group with breast cancer was detected to be higher. In the B7-H4 SNP rs10801935, polymorphic AA, and AG genotype distributions were found in higher frequencies in the breast cancer patients. In contrast to the results of a published study, the present study shows that B7-H4 rs3738414 polymorphism GG genotype was found in higher frequency in the control group than the breast cancer group and the result was statistically significant (P=0.018). Conclusion: Larger scale studies are necessary to determine the prevalence of these polymorphisms and association with breast cancer in Turkish community, as this study is the first study performed.
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Breast cancer FGFR2 B7-H4 polymorphism
Human Papilloma Viruses and Their Genotype Distribution in Women with High Socioeconomic Status in Central Anatolia, Turkey: A Pilot Study
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Barut, MU (Barut, Mert Ulas) ; Yildirim, E (Yildirim, Engin) ; Kahraman, M (Kahraman, Mehmet) ; Bozkurt, M (Bozkurt, Murat) ; Imirzalioglu, N (Imirzalioglu, Necat) ; Kubar, A (Kubar, Ayhan) ; Çaliskan, E (Caliskan, Eray) ; Sak, S (Sak, Sibel) ; Aksu, T (Aksu, Tarik)
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MEDICAL SCIENCE MONITOR
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Translate Background: In the present study we retrospectively evaluated the results of outpatients who had an HPV analysis, and present objective evidence for the administration of preventive inoculation in our area.
Material/Methods: We retrospectively reviewed 532 outpatients who visited a single center between 2012 and 2016 and had an HPV infection analysis. The criteria for inclusion of patients with unhealthy cervix in the study were: erosion, chronic cervicitis, healed lacerations, hypertrophied cervix, and abnormal discharges from the cervix.
Results: We found that 122 out of 532 patients were infected with HPV, and the rate of multiple infections was 59.0% (72/122). HR-HPV (group 1 carcinogens HPV-16 (18.9%, 23/122), HPV-18 (13.1%, 16/122), HPV-31 (4.9%, 6/122), HPV-33 (3.3%, 4/122), HPV-35 (7.4.9%/122), HPV-39 (5.7%, 7/122), HPV-45 (5.7%, 7/122), HPV-51 (11.5%, 15/122); Group 3 LR-HPV; HPV-6 (31.1%, 38/122), HPV-11 (26.2%, 32/122), HPV-42 (9.0%, 11/122) and HPV43 (4.9%, 6/122). In terms of linear-by-linear association test, no significant statistical difference was identified between years. The P value for HPV infection rate on year basis was P>0.05.
Conclusions: In this hospital-based retrospective analysis, HPV types were found to be similar to HPV types reported in developed countries. We firmly suggest that patients should be informed about the risk of HPV infection at early ages.
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Author Keywords
Epidemiology Genotype Human Papillomavirus DNA Tests Hybridization, Genetic
Age-Related Macular Degeneration and Association of CFH Y402H and LOC387715 A69S Polymorphisms in a Turkish Population
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Soysal, Y (Soysal, Yasemin) ; Inan, ÜÜ (Inan, Umit Ubeyt) ; Küsbeci, T (Kusbeci, Tuncay) ; Imirzalioglu, N (Imirzalioglu, Necat)
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DNA AND CELL BIOLOGY
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Translate Age-related macular degeneration (AMD) is a disease with multifactorial etiology characterized by irreversible loss of central visual acuity. The discovery of susceptive single-nucleotide polymorphisms (SNPs) has progressed our understanding of AMD. Complement factor H (CFH) gene Y402H polymorphism and high-temperature requirement A-1 (HTRA1) LOC387715 gene A69S polymorphisms are the most important SNPs reported in the literature. Determination of genetic risk factors and genotype-phenotype relationship in AMD may result in rapid and cost-effective therapeutic applications for young and old population. In this study, we hypothesized a potential association between CFH gene Y402H and HTRA1 LOC387715 gene A69S polymorphism in Turkish AMD patients. In blood samples from a total of 252 individuals, 147 clinically diagnosed as AMD and the others control, polymorphic sites in CFH, Y402H (Tsp509I T/C), and HTRA1, LOC387715 A69S (FnuHI G/T), were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. There was significant difference between CFH genotypes in the AMD group, TT 21.8%, TC 48.3%, and CC 29.9%, and in the control subjects, TT 45% (p = 0.003), TC 41% (p = 0.0001), and CC 14% (p = 0.0001). Further, the A69S polymorphism of LOC387715 was investigated and found to be significantly associated with AMD. LOC387715 genotypes in the AMD group were GG 30.6%, GT 38.1%, and TT 31.3% and in the control subjects were GG 59% (p = 0.027), GT 39% (p = 0.0001), and TT 2% (p = 0.0001), respectively. We also found that Y402H C and A69S T allele were associated with AMD. This is the first study showing that Y402H and LOC387715 are associated with AMD in Turkish population.
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COMPLEMENT-FACTOR-HHTRA1 PROMOTER POLYMORPHISM GENE RISK USCEPTIBILITY VARIANT INCREASES HAPLOTYPE DRUSEN
KLOTHO and VDR Gene Polymorphisms and Clinical Phenotype in Chronic Kidney Disease Patients
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Öztürk, KH (Ozturk, Kuyas Hekimler) ; Yildiz, SH (Yildiz, Saliha Handan) ; Imirzalioglu, N (Imirzalioglu, Necat) ; Demir, S (Demir, Serap) ; Köken, T (Koken, Tulay) ; Ulu, MS (Ulu, Memnune Sena)
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GAZI MEDICAL JOURNAL
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Translate Objective: With an increasing incidence and prevalence, Chronic Kidney Disease (CKD), is a bad prognosed and high cost common public health problem. KLOTHO gene which is defined as aging suppressor gene is highly expressed in kidneys. Decreased Vitamin D receptor (VDR) activation plays a role in CKD morbidity and mortality. The aim of this study is to examine the association between CKD and polymorphisms of KLOTHO (G395A and C1818T) and VDR (Apal and Taql) genes as well as investigating the effects of these polymorphisms on different clinical phenotype of the disease.
Methods: In 104 cases diagnosed to have CKD and 104 healthy controls, KLOTHO gene G395A, C1818T polymorphisms were studied by DNA sequence analysis and VDR gene Apal and Taql polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR- RFLP) method.
Results: No statistical difference was found in genotype and allele frequencies for KLOTHO gene G395A, C1818T and VDR gene Taql polymorphisms between the groups. VDR gene Apal polymorphism was found to be significantly higher in the patient group than in the control group (p=0.018).
Conclusion: Our results demonstrated that VDR gene Apal polymorphism may be related to CKD and may be a risk factor for the development of the disease.
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Author Keywords
Chronic Kidney Disease KLOTHO VDR Polymorphism
A 10.46 Mb 12p11.1-12.1 Interstitial Deletion Coincident With a 0.19 Mb NRXN1 Deletion Detected by Array CGH in a Girl With Scoliosis and Autism
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Soysal, Y (Soysal, Yasemin) ; Vermeesch, J (Vermeesch, Joris) ; Davani, NA (Davani, Nooshin Ardeshir) ; Hekimler, K (Hekimler, Kuyas) ; Imirzalioglu, N (Imirzalioglu, Necat)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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Translate We present a 12-year-old girl with de novo karyotype 46, XX, del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466Mb interstitial deletion on 12p11.1 -> 12p12.1 a 0.191Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions. (C) 2011 Wiley-Liss, Inc.
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Author Keywords
interstitial deletion chromosome 12parray CGHNRXN1 (neurexin-1) autism developmental disorders scoliosis
Characterization of Double Ring Chromosome 4 Mosaicism Associated With Bilateral Hip Dislocation, Cortical Dysgenesis, and Epilepsy
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Soysal, Y (Soysal, Yasemin) ; Balci, S (Balci, Sevim) ; Hekimler, K (Hekimler, Kuyas) ; Liehr, T (Liehr, Thomas) ; Ewers, E (Ewers, Elisabeth) ; Schoumans, J (Schoumans, Jacqueline) ; Bui, TH (Bui, The-Hung) ; Içduygu, FM (Icduygu, Fadime Mutlu) ; Kosyakova, N (Kosyakova, Nadezda) ; Imirzalioglu, N (Imirzalioglu, Necat)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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Translate We present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell-lines; the karyotype was 46,XY,r(4)[83]/45,XY, -4[6]/47,XY,r(4),+r(4)[5]/48,XY,r(4),+r(4),+dic r(4)[1]/46,XY[5]. The patient is a 20-month-old male who was the first pregnancy of nonconsanguineous parents. The baby was delivered at term with a birth weight of 1,700g (<3rd centile) and a length of 46 cm. The baby had feeding difficulties and vomiting problems. He started walking at age 2 years and delayed language was observed. Facial appearance was normal, but the ears were large with abnormal structure. The hands showed bilateral clinodactyly of the 5th fingers. He had mild mental retardation, and epilepsy. Analysis of chromosomes showed 46,XY,r(4)(::p16.3 -> qter::)[67]/46,XY,r(4;4)(::p16.3 -> qter::p16.3 -> qter::) [2]/46,XY[3] by multicolor banding (MCB) technique. Array CGH delineated the size of the terminal deletion as 900 kb in 4p16.3. The Wolf-Hirschhorn critical region was preserved even though our patient had mild mental and motor retardation. While the mosaicism of the ring 4 could affect the phenotype, the deleted 900 kb distal deletion and clinical features of the patient may provide further insight into characteristic phenotype of the 4p- related syndromes. (C) 2009 Wiley-Liss, Inc.
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Author Keywords
ring chromosome 4 mosaicism Wolf-Hirschhorn syndrome (WHS) hip dislocation epilepsy multicolor banding (MCB) array CGH analysis
A Case with Mosaic Ring Chromosome 18
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Samli, H (Samli, Hale) ; Özgöz, A (Ozgoz, Asuman) ; Içduygu, FM (Icduygu, Fadime Mutlu) ; Hekimler, K (Hekimler, Kuyas) ; Sivaci, Y (Sivaci, Yasar) ; Imirzalioglu, N (Imirzalioglu, Necat)
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GAZI MEDICAL JOURNAL
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Translate The classical mode of ring chromosome formation is by break forming in both arms of the affected chromosome, fusion of the breaking points and loss of the distal fragments. Ring chromosome of the chromosome 18 is relatively common among ring chromosomes and the rate of having typical clinical sings of 18p and 18q sydromes vary related to the length of the deletion in 18p and 18q. Ring 18 phenotype is characterised by growth retardation, mental retardation and nonspecific abnormalities, also facial dysmorphism and malformations may be observed. Our case referred with congenital malformation, motor mental retardation (MMR), short stature, high palate, pectus excavatus was evaluated genetically. GTL banding and FISH methods were performed for the metaphase plaques obtained from peripheral lymphocytes cultered for 72 hours. The karyotype of the case was detected to be 46, XX, r(18)[25]/46, XX[75] and confirmed by FISH analysis.
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Author Keywords
Ring chromosome 18 chromosome analysis abnormality
Prothrombotic Gene Polymorphisms in Young Patients with Cerebrovascular Accident
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Özturk, KH (Ozturk, Kuyas Hekimler) ; Özgaz, A (Ozgaz, Asuman) ; Içduygu, FM (Icduygu, Fadime Mutlu) ; Soysal, Y (Soysal, Yasemin) ; Küsbeci, ÖY (Kusbeci, Ozge Yilmaz) ; Imirzalioglu, N (Imirzalioglu, Necat)
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JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
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Translate Aim: Cerebrovascular diseases are complex multifactorial disorders showing an increased incidence with increasing age and affected by genetic and environmental factors. Although risk factors for cerebrovascular diseases include age, sex, lineage, hypertension, diabetes mellitus, hypercholesterolemia; in young cerebrovascular patients below age 45, genetic factors may also contribute to the etiology. In this retrospective study, prothrombotic gene polymorphisms which are thought to be related with formation of disease in young adults with cerebrovascular accident (CVA) were investigated. Material and Method: In the current study, Methylenetetrahydropholate Reductase (MTHFR) C677T and A129C; Prothrombin (Factor II) G20210A; Factor V Leiden G1691A prothrombotic gene polymorphisms were evaluated for 43 young patients under the age of 45 with cerebrovascular accident history. Result: For 43 young patients with cerebrovascular incident history, the frequency of following polymorphisms were determined as follows; MTHFR C677T polymorphism heterozygous frequency is 46.1%, homozygous frequency is 9.3%; MTHFR A1298C polymorphism heterozygous frequency is 39.47%, homozygous frequency is 26.31%; Prothrombin polymorphism heterozygous and homozygous frequency is 2.3%; FactorV Leiden polymorphism heterozygous frequency is 9.3%. Discussion: After evaluation the experimental results, we believe that MTHFR gene C677T and A1298C polymorphisms might be risk factors in CVAs. It was observed that cigarette usage, hypertension and existence of family story in addition to these polymorphisms increase the available risk.
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Author Keywords
Cerebrovascular Accident Genetic Polymorphisms Methylenetetrahydrofolate Reductase
Modulator Effects of the Methylenetetrahydrofolate Reductase C677T Polymorphism on Response to Vitamin B12 Therapy and Homocysteine Metabolism
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Sensoy, N (Sensoy, Nazli) ; Soysal, Y (Soysal, Yasemin) ; Kahraman, A (Kahraman, Ahmet) ; Dogan, N (Dogan, Nurhan) ; Imirzalioglu, N (Imirzalioglu, Necat)
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DNA AND CELL BIOLOGY
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Translate In this study, our aim was to investigate the association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on the vitamin B12 therapy response in 95 patients with vitamin B12 deficiency and 92 healthy control subjects using vitamin B12, plasma total homocysteine (tHcy), and folate as the main measure of outcome. MTHFR C677T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism techniques. There were no differences in the distribution of MTHFR genotypes in the cases versus the controls. Mean concentrations of plasma tHcy and B12 vitamin were 18.84 mu M and 142.47 pg/mL in patients with TT (10.5%) genotypes. Furthermore, mean concentrations of B12 vitamin after cobalamin therapy were 697.62, 656.64, and 488.76 pg/mL in patients with the CC, CT, and TT genotypes, respectively. The MTHFR 677 TT genotype has decreasing effect in B12 vitamin and increasing effect in tHcy. In comparison with the patients having CC and CT genotypes, patients with the TT genotype had a lower response to vitamin B12 therapy.
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FOLIC-ACID NUTRITIONAL-STATUS TURKISH PATIENTS PLASMA FOLATE B-VITAMINS MUTATION GENE
SURGERY FOR ACUTE ABDOMEN AND MEFV MUTATIONS IN PATIENTS WITH FMF
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Samli, H (Samli, Hale) ; Içduygu, FM (Icduygu, Fadime Mutlu) ; Özgöz, A (Ozgoz, Asuman) ; Akbulut, G (Akbulut, Goekhan) ; Hekimler, K (Hekimler, Kuyas) ; Imirzalioglu, N (Imirzalioglu, Necat)
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ACTA REUMATOLOGICA PORTUGUESA
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Translate Objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients.
Patients and Methods: A total of 159 patients were referred to our department with a diagnosis of FME Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied.
Results: Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently.
Conclusions: The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group.
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Author Keywords
FMF Acute abdomen Genetic mutations
Y Chromosome Microdeletions in 34 Cryptorchidism Patients
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Imirzalioglu, N (Imirzalioglu, Necat) ; Kibar, Y (Kibar, Yusuf) ; Çoban, H (Coban, Hidayet) ; Soysal, Y (Soysal, Yasemin) ; Dayanc, M (Dayanc, Murat)
Edited by
Sumbayev, VV (Sumbayev, VV) ; Pica, A (Pica, A) ; Luh, SP (Luh, SP) ; Lim, HK (Lim, HK) ; Natori, K (Natori, K) ; Meshitsuka, S (Meshitsuka, S)
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PROCEEDINGS OF THE WORLD MEDICAL CONFERENCE
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Translate Purpose: In this study, the molecular analysis of Y chromosome in 34 cryptorchidism patients was studied.
Methods: Thirty-four cryptorchid children who underwent orchidopexy were included in this study. Peripheral blood sample of 34 patients was collected and Y chromosome microdeletions were detected by PCR amplification of the Y chromosome specific genes and sequence tagged sites.
Results: Among cryptorchid patients, 19 were affected by bilateral and 15 by unilateral maldescent. Four patients (11.7%) showed a deletion of one or more STS. The prevalence of Y chromosome microdeletions was greater in patients with a history of bilateral cryptorchidism (3 of 19, 15.8%) than that observed in those with unilateral cryptorchidism (1 of 15, 6.7%).
Conclusions: It is important to undergo sperm cryopreservation for assisted reproduction in these patients and the diagnosis of AZF microdeletion should be offered to the couples undergoing assisted reproduction, since it is possible to transmit the genetic anomaly to the male offspring.
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Author Keywords
Cryptorchidism microdeletion Y chromosome PCR
Analysis of PTEN Gene Mutations in a Turkish Patient with Cowden Syndrome
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Soysal, Y (Soysal, Yasemin) ; Tate, G (Tate, Genshu) ; Polat, C (Polat, Coskun) ; Polat, N (Polat, Nevriye) ; Aktepe, F (Aktepe, Fatma) ; Sivaci, Y (Sivaci, Yasar) ; Imirzalioglu, N (Imirzalioglu, Necat)
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GENETIC TESTING AND MOLECULAR BIOMARKERS
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Translate Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN gene has importance in accurate diagnosis. This article presents a female patient with classic features of the syndrome and gives the result of first PTEN mutation analysis result in a Turkish CS patient. The patient, who suffered from trichilemmomas, papillomatous lesions, lipomas, thyroid lesions, gastrointestinal hamartomas, and fibrocystic disease of the breast, is consistent with the diagnostic criteria of CS. The exons and intron/exon boundaries of the PTEN gene were analyzed by polymerase chain reaction and direct sequencing. We analyzed the clinical features and DNA in a Turkish patient with CS. We found a single-nucleotide substitution in the splicing acceptor site of intron 5 of the PTEN gene (IVS5-2A > C). It is not clear whether which types of PTEN mutations are responsible for particular phenotypes. This germline PTEN mutation, IVS5-2A -> C, has been reported once before, but the clinical features differ from our patient. Also, this is the first reported PTEN mutation from Turkey.
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DISEASE MULTIPLE HAMARTOMA BREAST-CANCER GROWTH-FACTOR POLYPOSIS SPECTRUM
A Five Month Old Girl with Deletion in 5th Chromosome: Cri du Chat Syndrome
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Sen, TA (Sen, Tolga Altug) ; Melek, H (Melek, Hamide) ; Köken, R (Koken, Reflit) ; Imirzalioglu, N (Imirzalioglu, Necat)
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GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
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Translate This five month-old girl was admitted to our clinic due to failure to thrive. On physical examination, her weight, length and head circumference was below the 3rd percentile, she had blond hair, facial dysmorphism and high arched palate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the help of high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made.
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Author Keywords
Cat cry chromosome 5 deletion hypotonia failure to thrive
Investigating the in vitro effect of taurine on the infant lymphocytes by sister chromatid exchange
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Ergun, MA (Ergun, Mehmet Ali) ; Soysal, Y (Soysal, Yasemin) ; Kismet, E (Kismet, Erol) ; Akay, C (Akay, Cemal) ; Dundaroz, R (Dundaroz, Rusen) ; Ilhan, MN (Ilhan, Mustafa N.) ; Imirzalioglu, N (Imirzalioglu, Necat)
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PEDIATRICS INTERNATIONAL
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10.1111/j.1442-200X.2006.02205.x
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Translate Taurine (2-aminoethane sulphonic acid) is normally present in most mammalian tissues and the most abundant free amino acid in lymphocytes. It participates in various important physiological activities including modulation of the functioning of the central nervous system, cell proliferation, viability and prevention of oxidant-induced injury in many tissues. Its levels in human milk are very high which may be the most important difference from cow's milk. In contrast, an inverse association between breast-feeding and carcinogenesis in childhood or later in life has been suggested by several studies.
The study group consisted of eight healthy infants. Peripheral blood was collected and lymphocytes were cultured with either Taurine or Mitomycin C (MMC). Sister chromatid exchange in lymphocytes of the infants were calculated.
Statistical differences were found between untreated and MMC-treated lymphocytes, untreated and MMC plus taurine-treated lymphocytes, and between MMC and MMC plus taurine-treated lymphocytes (P = 0.012).
The results indicated that taurine plays a protective role in MMC-induced sister chromatid exchange in human lymphocytes. The authors suggest that the high levels of taurine found in human milk may induce protecting effects from breast-feeding against DNA damage and malignancy.
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Author Keywords
mitomycin C sister chromatid exchange taurine
The Importance of Results of MEFV Gene Analysis in Cases Prediagnosed as "Familial Mediterranean Fever"
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Yalçinkaya, E (Yalcinkaya, Emre) ; Güran, S (Guran, Sefik) ; Nas, BG (Nas, Burcu Gulay) ; Dursun, A (Dursun, Ahmet) ; Imirzalioglu, N (Imirzalioglu, Necat)
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ERCIYES MEDICAL JOURNAL
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Translate Purpose:ln this study we aimed to determine 'familial mediterranean fever locus" MEFV gene mutation in cases with a prediagnosis of familial mediterraneati fever (FMF).
Material and methods: MEFV mutations reported as being frequently seen (M680I, M69417, 17726,4 and E148Q) were analyzed with PCR amplification kit (PRONTOTAI FMF Basic, Savyon Diagnostic Ltd.) on 83 cases who were suspected of having FAIR
Results: in 29 out of 83 cases, no mutations were observed whereas in 54 (65%) out of 83 cases, mutations in MEFV locus were observed. In 14 cases (%17), homozygote mutation of one locus was fbund M680I/M6801 homozygote mutation was observed in four eases and M694 V/M694 V homozygote mutation in ten cases. These results demonstrate that M694 V and M680I (these mutations are suggested to have more serious clinic patterns) mutations are seen.frequently in our country. Forty cases (48%) had heterozygote mutations in MEFV gene. Seven out of 40 cases had compound heterozygote mutations (M6801/A1694V mutations in 2 cases, 11694V/V7 26A mutations in three cases, El 480/M694 V mutations in one case, and 1116801/V726A mutations in one case).
Conclusion: Our results represent a high carrier rate of mutations in MEFV gene in our country. Today, genetic analysis of MEFV gene is an important diagnostic criteria of FAIR disease.
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Author Keywords
Familial Mediterranean Fever Marenostrin Mutation