Purpose: The iam of this study was to investigate the genotype and allele frequencies of osteoporosis related candidate genes, VDR and COL1A1 and their relationship between biochemical and anatomic ...parameters in patients with postmenopausal osteoporosis and healthy women in the Cukurova region of Turkey.Materials and Methods: Eighty-four postmenopausal osteoporotic patients and fourty-five controls were recruited after obtaining informed consent. Four polymorphic restriction sites (ApaI, TaqI, BsmI and FokI) for the VDR gene and two polymorphic restriction sites (Sp1 and -1997G/T) for the COL1A1 gene were examined. All subjects were genotyped employing polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results: The frequencies of VDR and COL1A1 polymorphism genotypes, alleles and haplotypes were not statistically significant between patients and controls. The VDR gene BsmI, ApaI and TaqI polymorphisms, and the COL1A1 -1997G/T and Sp1 polymorphisms had a strong linkage disequilibrium. The most common haplotypes were “BAt” for patients and “baT” for controls in the VDR gene, the “TG” haplotype (also “TS”) was the most common in two groups for COL1A1 gene.Conclusion: The VDR and COL1A1 gene polymorphisms play key roles in osteoporosis susceptibility and BMD in postmenopausal women. Our findings may imply that polymorphisms of the VDR and COL1A1 genes were not associated with low BMD or fractures in postmenopausal Turkish women.
Amaç: Çalışmamızda, Çukurova bölgesinde, postmenopozal osteoporozlu hastalarda ve sağlıklı kadınlarda osteoporoz ile ilişkili aday genlerden VDR ve COL1A1 gen polimorfizmlerinin genotip ve allel sıklıkları ile biyokimyasal ve anatomik değişkenler arasındaki ilişkinin araştırılması amaçlanmıştır.Yöntem: Seksen dört postmenopozal osteoporotik hasta ve kırk beş kontrol bilgilendirilmiş onam alındıktan sonra çalışıldı. VDR geni için dört polimorfik restriksiyon alanı (ApaI, TaqI, BsmI ve FokI) ve COL1A1 geni için iki polimorfık restriksiyon alanı (Sp1 ve -1997 G / T) incelendi. Tüm çalışma grubu polimeraz zincir reaksiyonu-restriksiyon fragman uzunluğu polimorfizmi (PCR-RFLP) kullanılarak genotiplendirildi.Bulgular: Hastalar ve kontroller arasında VDR ve COL1A1 polimorfizm genotipleri, allel ve haplotip sıklıkları istatistiksel olarak anlamlı değildi. VDR geni için BsmI, ApaI ve TaqI polimorfizmleri ve COL1A1 geni için -1997G/T ve Sp1 polimorfizmleri arasında güçlü bir bağlantı vardır. VDR geninde en yaygın haplotipler, hastalar için “BAt” ve kontroller için “baT”, COL1A1 geni için “TG” haplotipi (aynı zamanda “TS”) her iki grupta da görülmüştür.Sonuç: VDR ve COL1A1 gen polimorfizmleri postmenopozal kadınlarda osteoporoza yatkınlık ve BMD'de anahtar rol oynar. Bulgularımız, VDR ve COL1A1 genlerinin polimorfizmlerinin postmenopozal Türk kadınlarında düşük BMD veya kırıklarla ilişkili olmadığını düşündürmektedir.
Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in ...Turkish population is aimed.
Material and Methods: 23 unrelated phenylketonuria patients (46 alleles) who are living in Cukurova region, Turkey were investigated.First, all exons were screened by using DHPLC method then the direct sequencing technique and ARMS methods were used to analyze mutation suspected samples.
Results: IVS10-11g→a splicing mutation in 27 alleles (58.7%), R261Q mutation in 7 alleles (15.2%) and E178G, P281L, R243X, R243Q, R408W, Y386C mutations, all in a frequency of 2/46 (4.3%) is found.
Conclusion: The arginine amino acid, accounting for 68.4% of changes in exon sites 7 and 12, where R243X, R243Q, R261Q and R408W mutations occur, is thought to be important for amino acid changes in phenylalanine hydroxylase gene among phenylketonuria patients in Çukurova region. Single-base mutations like IVS10-11g→a and P281L could be detected with an accuracy of 100% by the use of specifically designed primers by authors according to ARMS technique and it is relatively cheaper and requesting less technical equipment.
Amaç: Osteoporoz, kemik mineral yoğunluğunun (KMY) azalmasına bağlı olarak kemik mikromimarisinin bozulması ile ortaya çıkan multifaktöriyel bir hastalıktır. Kemik mineral yoğunluğunu etkileyen ...birçok çevresel faktör bilinmesine rağmen genetik yapının osteoporoz patogenezi ile ilişkisi son zamanlarda incelenmiş ve kemik kütlesi üzerine etkisi olan 150 kadar aday genin varlığı rapor edilmiştir. Ancak bu etkinin dereceleri ile genler ve çevresel faktörlerin etkileşimleri halen net değildir. Bu çalışmada, lomber omurga ve femur boynu KMY değerleri ve osteoporozla ilgili önemli kriterler ile ERa geni XbaI, Pvull polimorfizmleri arasındaki ilişkinin araştırılması amaçlanmıştır.
Materyal ve M et od: Bu çalışmaya 73 osteoporotik ve 34 osteoporozu olmayan (kontrol) toplam 107 postmenopozal kadın alındı. Osteoporozla ilgili kriterler ve lomber omurga ve femur boynu KMY değerleri ile polimeraz zincir reaksiyonu (PCR) ve restriksiyon parça uzunluk polimorfizmi (RFLP) tekniklerini kullanarak belirlenen ERa geni XbaI, PvuII polimorfizmleri arasındaki ilişki araştırılmıştır. Hasta ve kontrollerle ilgili araştırma verileri, çeşitli laboratuvar testleri ve standardize sorgulama formlarından elde edilmiştir.
Bulgular: Osteoporotik ve osteoporotik olmayan kadınlar arasında XbaI ve Pvu II polimorfizmlerinin genotip, allel ve haplotip frekansları bakımından anlamlı bir fark bulunmamıştır. XbaI polimorfizminde kontrollerde minor allel “X” alleli (G nükleotiti) (MAF=0,457) iken hastalarda “x” alleli (A nükleotiti) (MAF=0,467) olmuş, PvuII polimorfizminde, kontrolde minor allel “P” (C nükleotiti) (MAF=0,485) iken hastalarda ”p” alleli (T nükleotiti) (MAF=0,418) olmuştur. Pvu II polimorfizmi ile boyun - lomber KMY arasında xx genotipli hastalarda femur boyun KMY ortalama değerinin, XX ve Xx genotipine sahip bireylerden daha yüksek olduğu (p=0,05), kontrol grubunda ise önemli bir farkın olmadığı bulunmuştur. PvuII polimorfizminde ise hasta ve kontrollerin femur boyun-lomber KMY değerleri arasında hiçbir fark saptanmamıştır. Aile osteoporoz öyküsü bakımından PP, Pp ve pp genotipleri arasında kontrollerde önemli bir fark yok iken (p=0,31), hasta grubundaki fark önemli (p=0,04) olup en yüksek osteoporoz öyküsü PP genotipinde (%85,7) bulunmuştur. Hasta grubunda, Xxpp genotipine sahip olan bireylerden, günde 15 dakika ve üzeri güneşe maruz kalanların, gün içinde hiç güneşe maruz kalmayanlara göre lomber KMY değerlerinin yüksek olduğu saptanmış (p=0,01), kontrol grubunda ise bir fark bulunmamıştır. Osteoporozla ilgili incelenen diğer kriterlerin hiçbirisi ile XbaI, Pvull polimorfizmleri arasında ilişki bulunamamıştır.
Sonuç: Osteoporotik hastalarda x ve p allel frekansları daha düşük ve genotipi xx olan hastaların da femur boyunlomber KMY değerleri daha yüksektir. Xbal polimorfizmi genotipleri bakımından hasta ve kontroller arasındaki fark anlamlı olmasa bile, yüksek KMY değeri ile ilişkili olan “x” allelinin hastalarda düşük kontrollerde yüksek olmasının önemli olduğu düşünülebilir.
The genetic background predisposing pregnant women to pre-eclampsia/eclampsia (PE/E) is still unknown. The aim of the current study was to investigate whether there is an association between the ...TNF-alpha-308 and 850 polymorphisms and PE or eclampsia. In this study, 40 cases of eclampsia, 113 cases of PE and 80 normotensive control cases were genotyped for the TNF-alpha-G-308A and C-850 polymorphisms. At position 308, the replacement of Guanine with Adenosine was denoted as TNF2. We found a significant difference between the TNF2 allele frequencies of the eclamptic, pre-eclamptic and normotensive controls. TNF2 (AA) polymorphism frequency was significantly higher among the eclamptics and pre-eclamptics (control : 5%, PE : 13.3%, E : 12.9%). A significantly different genotype distribution of C-850T polymorphism was observed between the PE/E and control groups, with the frequency of the variant TT genotype being significantly reduced in the preeclamptics (PE : 17% ; E : 17.5%) when compared with the control group (24.3%). We have demonstrated an association between TNF-alpha polymorphisms and pre-eclampsia susceptibility. However, it is not known whether C-850T polymorphism has a functional effect on the TNF-alpha gene. In addition, it was not possible to determine whether this polymorphism promotes the progression from PE to eclampsia because of no statistically significant difference between eclampsia and the controls.
Purpose: Osteoporosis is a multifactorial disease characterized by a decrease bone mineral density (BMD) and micro-architectural deterioration of bone structure. Although several environmental ...factors are known to have influences on BMD, genetic contribution to the pathogenesis of osteoporosis has recently been recognized. The existence of about 150 candidate genes which have effects on bone mass was reported but the degree of these effects and interaction of genes and environment are presently unclear. In this study, it was aimed to investigate any relationship between BMD values of lomber vertebra and femoral neck, osteoporosis-related criteria and ERα gene XbaI, PvuII polymorphisms. Material and Methods: We evaluated the relationship between the osteoporotic factors and ERα gene XbaI, PvuII polymorphisms in 107 postmenopausal women (73 osteoporotic as study group and 34 non-osteoporotic as a control group) by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technics. Data about the osteoporosis-related factors about all subjects were either based on the laboratory analyses and results of a standardized questionnaire. Results: The distributions of genotype, allele and haplotype frequencies of both XbaI and PvuII polymorphisms were not significantly different between osteoporotic and control group. In control group of XbaI polymorphism, minor allel was "X" (nucleotide G) with the frequency MAF=0,457 but in osteoporotic women it was "x" (nucleotide A) with MAF=0,467 and in control group of PvuII polymorphism, minor allele was "P" (nucleotide C) (MAF=0,485) and in osteoporotic women it was "p" (nucleotide T) (MAF=0,418). In patients xx genotypes of XbaI polymorphism had significantly higher femoral neck-lomber average BMD value than XX and Xx genotypes (p=0,05) while no significant difference was found among control genotypes. PvuII genotypes showed no differences for femoral neck-lomber BMD values both in patients and controls. For the family history of osteoporosis, PP, Pp and pp genotypes did not significantly differ in controls but differences among patient genotypes were significant reaching the highest ratio (% 85.7) in PP genotypes (p=0,04). Xxpp genotyped patients who exposed to sun over 15 minutes per day had higher BMD values than in patients who had no sun exposure (p=0.01) but there was no difference in control group. None of the other criteria related to osteoporosis was found to be associated with XbaI, PvuII polymorphisms. Conclusion: Osteoporotic women have higher femoral neck-lomber BMD values for xx genotypes but all osteoporotic women have lower x and p allele frequencies. Although there was an insignificant difference for XbaI genotypes between patients and controls, less occurrence of \"x\" allel associated with higher BMD values in patients may be of some clinical diagnostic importance.
To determine how daylight exposure in mice affects melatonin protein expression in blood and Kiss1 gene expression in the hypothalamus. The second aim was to assess the relationship between skin ...cancer formation, daylight exposure, melatonin blood level, and kisspeptin gene expression level.
New-born mice (n=96) were assigned into the blind group or daylight group. The blind group was raised in the dark and the daylight group was raised under 12 hours light/12 hours dark cycle for 17 weeks. At the end of the 11th week, melanoma cell line was inoculated to mice, and tumor growth was observed for 6 weeks. At the end of the experiment, melatonin level was measured from blood serum and Kiss1 expression from the hypothalamus.
The blind group had significantly higher melatonin and lower Kiss1 expression levels than the daylight group. Tumor volume was inversely proportional to melatonin levels and directly proportional to Kiss1 expression levels. Tumor growth speed was lower in the blind than in the daylight group.
Melatonin and Kiss1 were shown to be nvolved in tumor suppression. They were affected by daylight and were mutually affected by each other.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain, regulation of gonadotropin secretion and sexual interest in adults. Our goal is to determine the ...developmental mRNA expression patterns of aromatase, estrogen receptor alpha (Esr1) and progesterone receptor (Pgr) in the fetal mouse brain at different times of gestation. Methods: Female mice were mated with fertile males and checked for vaginal plug the next day to confirm successful mating (vaginal plug=day 1 of pregnancy). At gestational days 9-12-15-17-19-21 pregnant mice were sacrificed and fetal brains were removed and mRNAs were isolated and reverse transcribed into cDNAs. In order to evaluate mRNA expression levels, real time PCR was performed employing primers for Cyp19a1, Esr1 and Pgr genes. Results: In our studies, Esr1 and Pgr mRNA expression levels peaked at day 9 and returned to normal adult levels at around day 17-18. Cyp19a1 mRNA expression peaked at day 14-16 along with a drastic decrease in Esr1 and Pgr mRNA expression levels and then returned to normal adult levels around the time of delivery. Conclusion: Cyp19a1 expression in the fetal brain launches around gestational day 11-12 and peaks around gestational day 14-16 and fall back to normal adult levels at around gestational day 19-20. It has been recently reported that Esr1 and Pgr both mediate Cyp19a1 mRNA expression in the mouse brain. Together with these previous reports, our findings may imply that both Esr1 and Pgr possibly play a role in the developmental regulation of aromatase in the fetal mouse brain. Cukurova Med J 2013; 38(2.000): 174-180
This study included 45 patients with intentional insecticide intoxication and 21 with accidental intoxication who were treated at the First-Aid and Emergency Department of Balcali Hospital at the ...Faculty of Medicine in the Cukurova University, Adana, Turkey, while the control group consisted of 25 people selected from university personnel known to be healthy. Patients with a history of X-ray exposure in the last 6 months or of any virus disease as well as continuous drug users and smokers were excluded, leaving a total of 49 patients. Acetylcholine esterase (Pseudocholinesterase) enzyme (AchE), sister-chromatid exchanges (SCE), the mitotic index (MI), and the replication index (RI) were evaluated. Blood samples were cultured for SCE evaluation and sera separated for AchE levels. Insecticide exposure was generally intentional for suicide in adolescents and at older ages, but accidental for children. AchE levels were found to be significantly lower in organophosphorus (OP) and carbamated (CB) insecticide poisoning groups in comparison with the control group (p<0.001), while the pyrethroid (PY) group was not statistically different for the AchE effect (p>0.05). SCE was found to be significantly higher in OP and CB groups (p<0.001), while the PY and control groups were statistically similar for SCE levels (p>0.05). This study showed an increase in SCE in response to orally ingested insecticides. These findings indicate that insecticide exposure results in cell abnormalities, with resulting impediments to the division and replication of cells, as suggested by MI decreases and RI increases, while the speed of the division cycles of stimulated cells increases.
Amaç: Çalışmamızda, Çukurova bölgesinde, postmenopozal osteoporozlu hastalarda ve sağlıklı kadınlarda osteoporoz ile ilişkili aday genlerden VDR ve COL1A1 gen polimorfizmlerinin genotip ve allel ...sıklıkları ile biyokimyasal ve anatomik değişkenler arasındaki ilişkinin araştırılması amaçlanmıştır.Yöntem: Seksen dört postmenopozal osteoporotik hasta ve kırk beş kontrol bilgilendirilmiş onam alındıktan sonra çalışıldı. VDR geni için dört polimorfik restriksiyon alanı (ApaI, TaqI, BsmI ve FokI) ve COL1A1 geni için iki polimorfık restriksiyon alanı (Sp1 ve -1997 G / T) incelendi. Tüm çalışma grubu polimeraz zincir reaksiyonu-restriksiyon fragman uzunluğu polimorfizmi (PCR-RFLP) kullanılarak genotiplendirildi.Bulgular: Hastalar ve kontroller arasında VDR ve COL1A1 polimorfizm genotipleri, allel ve haplotip sıklıkları istatistiksel olarak anlamlı değildi. VDR geni için BsmI, ApaI ve TaqI polimorfizmleri ve COL1A1 geni için -1997G/T ve Sp1 polimorfizmleri arasında güçlü bir bağlantı vardır. VDR geninde en yaygın haplotipler, hastalar için “BAt” ve kontroller için “baT”, COL1A1 geni için “TG” haplotipi (aynı zamanda “TS”) her iki grupta da görülmüştür.Sonuç: VDR ve COL1A1 gen polimorfizmleri postmenopozal kadınlarda osteoporoza yatkınlık ve BMD'de anahtar rol oynar. Bulgularımız, VDR ve COL1A1 genlerinin polimorfizmlerinin postmenopozal Türk kadınlarında düşük BMD veya kırıklarla ilişkili olmadığını düşündürmektedir.
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