ABSTRACT
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.
Subject(s)
Cytoskeletal Proteins/genetics , Familial Mediterranean Fever/genetics , Mutation , Alleles , DNA Mutational Analysis/methods , Familial Mediterranean Fever/diagnosis , Genotype , Humans , Mutation Rate , Pyrin , TurkeyABSTRACT
This study was designed to determine the possible asssociation between selected FAS and FASLG polymorphisms and Hepatitis B virus (HBV) infection. FAS-670 G/A, FAS-1377 G/A, FASLG-844 T/C and FASLG IVS2nt-124 A/G polymorphisms were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). A total of age and sex matched 108 controls and a hundred chronic HBV patients were recruited to conduct a case-control study. FAS-670 polymorphism was associated with chronic HBV infection (P = 0.03) FAS-1377 GG, GA and AA genotypes among the cases (90%, 5% and 5%, respectively) were significantly different from those among the controls (68%, 31.5% and 5.6%; P = 0.00). FASLG-844 allele distribution was similar between the groups (P = 0.17) but TC genotype (67.3%) was frequent in chronic HBV patients, while CC genotype was found significantly higher (29.6%) in controls. No association between FASLG IVS2nt-124 polymorphism and chronic HBV infection could be identified (P = 0.55). FAS-670 polymorphism is associated with chronic HBV infection, while FASLG IVS2nt-124 A/G polymorphism is not. The FAS-1377G/A and FASLG-844 T/C genotypes are likely to play a substantial role in HBV infection. Further studies evaluating polymorphisms in other genes related with apoptosis are needed to elucidate the role of genetic variation in HBV infection.
Subject(s)
Fas Ligand Protein/genetics , Genetic Predisposition to Disease/genetics , Hepatitis B, Chronic/genetics , Polymorphism, Single Nucleotide , fas Receptor/genetics , Adult , Aged , Alleles , Case-Control Studies , Female , Gene Frequency , Genotype , Hepatitis B virus/physiology , Hepatitis B, Chronic/virology , Host-Pathogen Interactions , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment LengthABSTRACT
Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.
Subject(s)
Abnormalities, Multiple/genetics , Cataract/congenital , Consanguinity , Hypogonadism/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Optic Atrophy/genetics , rab3 GTP-Binding Proteins/genetics , Cataract/genetics , Child, Preschool , Cornea/abnormalities , Female , Humans , Infant , Male , Pedigree , TurkeyABSTRACT
The use of mobile telephones has rapidly increased worldwide as well as the number of mobile phone base stations that lead to rise low level radiofrequency emissions which may in turn have possible harm for human health. The national radiation protection board has published the known effects of radio waves exposure on humans living close to mobile phone base stations. However, several studies have claimed that the base station has detrimental effects on different tissues. In this study, we aimed to evaluate the effects of mobile phone base stations on the micronucleus (MN) frequency and chromosomal aberrations on blood in people who were living around mobile phone base stations and healthy controls. Frequency of MN and chromosomal aberrations in study and control groups was 8.96 +/- 3.51 and 6.97 +/- 1.52 (p: 0.16); 0.36 +/- 0.31 and 0.75 +/- 0.61 (p: 0.07), respectively. Our results show that there was not a significant difference of MN frequency and chromosomal aberrations between the two study groups. The results claim that cellular phones and their base stations do not produce important carcinogenic changes.
Subject(s)
Blood Cells/radiation effects , Cell Phone , Chromosome Aberrations , Environmental Exposure/adverse effects , Micronuclei, Chromosome-Defective , Microwaves/adverse effects , Adult , Biomarkers , Case-Control Studies , Female , Humans , Male , TurkeyABSTRACT
Here, we describe a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 15q13 is segregating. The fragile site was present in nine members of a three-generation family and expressed spontaneously in a high proportion of the metaphases varying from 88 to 95% under standard culture conditions in all the carriers. This didn't change under folate deficiency.
