ABSTRACT. Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA) rearrangements. To investigate the etiology of decreased sperm fertility and motility of sperm and to develop an appropriate therapeutic strategy, the molecular basis of these defects must be elucidated. In this study, we aimed to reveal the relationships between the genetic factors including sperm mtDNA mutations, Y chromosome microdeletions, and sperm parameters that can be regarded as candidate factors for male infertility. Thirty men with a history of infertility and 30 fertile men were recruited to the study. Y chromosome microdeletions were analyzed by multiplex PCR. Mitochondrial genes ATPase6, Cytb, and ND1, were amplified by PCR and then analyzed by direct sequencing. No Y chromosome microdeletions were detected in either group. However, a total of 38 different nucleotide substitutions were identified in the examined mitochondrial genes in both groups, all of which are statistically non-significant. Fifteen substitutions caused an amino acid change and 12 were considered novel mutations. As a conclusion, mtDNA mutations and Y chromosome microdeletions in male infertility should be examined in larger numbers in order to clarify the effect of genetic factors.

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SummaryObesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be and to remain physically inactive also behaviors such as food and beverage preferences and nutrient intake may at least partially genetically determined. Consequently, besides environment, genetic factors may also contribute to the level of physical activity and eating behaviors thus effect obesity. Therefore the aim of this study is to investigate the effect of various gene mutations on obesity, physical activity levels and eating behavior phenotypes. One hundred patients and 100 controls were enrolled to the study. Physical activity levels were measured with an actical acceloremeter device. Eating behaviors were evaluated using Three-Factor Eating questionnaire (TFEQ). Associations between eating behavior scores and physical characteristics were also evaluated. The information about other obesity risk factors were also collected. Mutations were investigated with PCR, direct sequencing and RealTime PCR. rs1051168, rs8050146 22778C > T mutations were found statistically significant in patients, rs1121980 was found statistically significant in controls. 21 mutations were found in MC4R and near MC4R of which 18 of them are novel and 8 of them cause amino acid change. In addition, it was found that, some obesity related factors and questions of TFEQ are associated with various investigated gene mutations. Any relation between gene mutations and physical activity levels were not detected. It is thought that, due to the genotype data and eating behaviors, it may be possible to recommend patients for proper eating patterns to prevent obesity. V C 2016 IUBMB Life, 68(10):806-816, 2016

Obeziteyle ilişkili beslenme alışkanlıklarının araştırılmasında yeni bir yöntem "Üç faktörlü beslenme anketi" Amaç: Literatürde TFEQ "Three-factor eating questionnaire" olarak bilinen anket, bireylerin beslenme alışkanlıklarını ölçmektedir. Bu çalışmada, grubumuz tarafından «Üç Faktörlü Beslenme Anketi» adıyla Türkçeye çevrilmiş olan anketin geçerlik ve güvenirliğinin kanıtlanarak ülkemizde kullanımının sağlaması amaçlanmaktadır. Yöntemler: Vücut kitle indeksi 30'un üzerinde olan 50 obez hasta, vücut kitle indeksi 25-30 arasında olan 50 fazla kilolu kişi ve 18'den büyük 25'ten küçük olan 50 sağlıklı birey çalışmaya dahil edilmiştir. Tüm bireylerin yaş, cinsiyet, bel çevresi, kilo, boy ve vücut kitle indeksi değerleri kaydedilmiş ve bireylere anket uygulaması gerçekleştirilmiştir. Bulgular: İstatistiksel analizler sonucunda anketin güvenirliğinin yüksek olduğu tespit edilmiştir. Ek olarak, anketin kişilerin bilinçli olarak yemek yemelerini kısıtlama derecesini, kontrolsüz olarak yemek yeme seviyesini ve duygusal oldukları anlardaki yemek yeme derecesini ölçmenin yanında, açlığa duyarlılık seviyesini de ölçtüğü tespit edilmiştir. Sonuç: Anketin Türkçe versiyonu, beslenme alışkanlıklarının incelenmesi amacıyla ülkemizde diğer araştırmacılar tarafından kullanılabilir. Anahtar sözcükler: Üç Faktörlü Beslenme Anketi, obezite, beslenme alışkanlıkları ABS TRACTA new method in investigation of obesity-related eating behaviors 'three-factor eating questionnaire' Objective: TFEQ "Three-factor eating questionnaire » evaluates eating behaviours of individuals. In this study, it was aimed to provide the usage of this questionnaire, which was translated into Turkish and named as «Üç Faktörlü Beslenme Anketi» by verifying the validity and reliability. Methods: Fifty obese patients with a body mass index greater than 30, 50 overweight individuals with a body mass index between 25 and 30, and 50 healthy individuals with a body mass index smaller than 25 were recruited to the study. Age, gender, waist circumference, weight, height and body mass index values were recorded and the questionnaire was filled up by all individuals. Results: Reliability of the questionnaire was found to be high. In addition, it was detected that, besides the evaluation of cognitive restraint of eating, disinhibition of eating control and emotional eating, the questionnaire also evaluates susceptibility to hunger. Conclusion: Turkish version of the questionnaire could be used for the investigation of eating behaviours by other researchers in our country.

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