Phenylthiocarbamide taste perception as a possible genetic association marker for nutritional habits and obesity tendency of people.

Ability to taste Phenylthiocarbamide (PTC) a bitter molecule, is usually used to know the heritable characteristic in both genetic and physiological studies. So far, no research has yet attested whether PTC blindness relation with obesity and some nutrition behaviors of human. This study is the first attempt on a large scale to examine PTC sensitivity in healthy and overweight people in Turkish population to define in the perception of bitter senses which is associated with nutrition habits, body mass index, age, gender, and to be in stable weight. PTC taste perception was measured by tasting PTC solution filtered in a paper. The results showed that tasters were significantly more frequent (81,8%) than nontasters (18,2%) in all population. A higher proportion of nontasters were observed in the quite fat individual group (BMI >40kg/m(2)). Alterations explained these differences in basic taste sensitivity, age, gender, BMI, individuals' family obesity situations, vegetarian nourishment. Increased frequency of nontasters allele is evident with obesity condition. This could be due to lack of preference for nutrition among nontasters. So the phenotypic variation in PTC sensitivity is genetic in origin; it may represent an association with obesity, dietary habits, regular weight, gender, and age.

Combined point mutations in codon 12 and 13 of KRAS oncogene in prostate carcinomas.

Prostate cancer is a common malignancy that develops by structural mutation(s) and/or other genetic alterations in specific genes.The G to T transversions in codon 12 and C to T transitions in codon 13 of KRAS proto-oncogene are predominant point mutations that occur in about 20% of different cancers in human. In the current study it was aimed to investigate the prevalence and predictive significance of KRAS mutations in patients with prostate carcinomas. In a total of 30 fresh tumoural tissue specimens were investigated in patients with prostate carcinoma. All tumoural specimens were histo-pathologically diagnosed and genotyped for codon 12, 13 KRAS point mutations by reverse hybridisation and direct sequencing methods. KRAS mutations were found in 12 (40%) samples with 29 samples deriving from adenocarcinomas and 1 sample was small cell prostate carcinoma. In 1 (3.44%) sample codon 12 was found to be mutated and in 2 (6.8%) samples codon 13 and in 9 (31%) samples combined codon 12 and 13 were found to be mutated particularly in higher grade of tumoural tissues. Our study, based on representative collection of human prostate tumours, indicates that combined mutations in codons 12 and 13 KRAS are relatively infrequent and most commonly occur in prostate carcinomas.

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.

The 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.

Epigenetic inactivation of tumor suppressor SFRP2 and point mutation in KRAS proto-oncogene in fistula-associated mucinous type anal adenocarcinoma: report of two cases.

The secreted frizzled-related proteins (SFRPs) genes are unmethylated in normal colorectal mucosa tissue but aberrant methylation profiles can be detected in colorectal cancer (CRC), adenomas, and in aberrant crypt foci. The aim of the current study was to clarify whether SFRP2 methylation and K-ras structural mutation in fecal DNA can be found in stool and tumoral tissues of individuals with fistula-associated mucinous type anal adenocarcinomas (MTAA).Two man patients (68 and 56 years old) were treated for anorectal fistula in the surgical department. Patients were evaluated for clinical findings, tumoural tissue samples were examined histopathologically and DNA from fecal and tumoral tissue samples were isolated. K-ras mutation and promoter hypermethylation of SFRP2 gene in tumoral tissues were assessed by methylation-specific PCR based stripAssay hybridisation technique (Me-PCR) and compared to the healthy controls. Fecal and tumoural tissue samples from both patients were found to be fully hypermethylated profiles for SFRP2 gene and combined point mutations were detected in codon 12 and 13 of K-ras proto-oncogene. The current results showed that the combined effects of somatic mutations in K-ras and epigenetic alterations in SFRP2 genes may play an active role in the development of mucinous type anal adenocarcinoma.