The effects of daylight exposure on melatonin levels, Kiss1 expression, and melanoma formation in mice.

Aim: 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.

Methods: New-born mice (n=96) were assigned into the blind group or daylight group.

Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6.

Introduction: This study aimed to analyze the genotypic characteristics of Friedreich's ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar ataxia considering both clinical and electrophysiological findings.

Methods: The study included 129 indexed cases, who applied to the neurology department and were diagnosed with hereditary cerebellar ataxia through clinical, laboratory, and electrophysiological findings, and 15 sibling patients who were diagnosed through family scanning (144 cases in total); their genetic analyses were also performed. Detailed physical and neurological examinations, pedigree analyses, electroneurography, evoked potentials, cerebral-spinal magnetic resonance imaging, and echocardiographic analyses were performed for all cases.

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.

Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features.

Suppression of the tumorigenicity of B-16V melanoma cells via lysozyme gene.

Objective: The aim of this study was to evaluate the effects of lysozyme on the tumorigenicity of B-16V melanoma cells.

Methods: After performing a series of molecular biology applications, including mRNA isolation, reverse transcriptase polymerase chain reaction, restriction digestions and ligations, recombinant pHM6 vector harboring mouse lysozyme gene (pHM6mLys) was constructed. B-16V melanoma cells were transfected with plasmid DNAs (pHM6 and pHM6mLys).

Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers.

Charcot-Marie-Tooth (CMT) is a common inherited peripheral neuropathy with a prevalence of 1 in 2,500. CMT has two distinct forms (CMT1 and CMT2) that can be identified electrophysiologically. A 1.

Polymorphisms in the tumor necrosis factor-alpha gene in Turkish women with pre-eclampsia and eclampsia.

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.

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.

Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS10-11g-->a splicing mutation in 27/46 (58.

The sister-chromatid exchange and acetylcholine esterase enzyme levels among patients with insecticide intoxication in the Cukurova region, Turkey.

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.

GAA repeat polymorphism in Turkish Friedreich's ataxia patients.

Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repeat polymorphism in 80 Turkish SCA patients and 38 family members of 11 typical FRDA patients were reported.

Use of enzyme-linked immunosorbent assay for detection of natural leishmania infections in phlebotomine sand flies from southeastern Turkey.

In total, 320 phelebotomine sand flies from Alibozlu (Osmaniye), Kizyusuflu (Osmaniye), and Sanliurfa in southeastern Turkey were tested for the detection and identification of Leishmania in vector sand flies by enzyme-linked immunosorbent assay with species-specific monoclonal antibodies. We used monoclonal antibodies that recognize both Leishmania tropica and Leishmania major, and a monoclonal antibody specific only to L. tropica.

Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Cukurova region (Turkey).

Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease characterized by recurrent fever, serositis and arthritis. The disease is highly prevalent in Mediterranean basin populations. Recently, the gene responsible for FMF (MEFV) was cloned and at least 40 MEFV gene mutations have been identified.

Artificial bloodfeeding of Anopheles sacharovi on a membrane apparatus.

Anopheles sacharovi, the main human malaria vector in Turkey, has been maintained in our laboratory by feeding on anesthetized rabbits for about 20 years but it is a difficult species to colonize and bloodfeed. To eliminate the need for keeping and using live rabbits to supply blood meals, artificial bloodfeeding methods with suitable membrane apparatus were investigated. The feeding apparatus designed by the World Health Organization and 3 other types designed by us (for feeding on preserved human blood) were tested.

Detection of knockdown resistance mutations in Anopheles sacharovi (Diptera: Culicidae) and genetic distance with Anopheles gambiae (Diptera: Culicidae) using cDNA sequencing of the voltage-gated sodium channel gene.

The knockdown resistance (kdr) mutation in the voltage-gated sodium channel gene (VGSCG), an important resistance mechanism against pyrethroids, was studied in Anopheles sacharovi Favre. It was found that the specific primers Agd1 and Agd2 used for polymerase chain reaction (PCR) amplification of Anopheles gambiae Giles VGSCG also amplified this genomic region in An. sacharovi.

An epidemicity of Paederus species in Cukurova region.

Two hundred four patients (117 females, 87 males; age range: 3-80 y) were admitted to our facility between May 1995 and June 1997 and studied to determine the endemicity of the Paederus species, which has been increasing for the last 6 years (especially in May and June) in the Cukurova region of southern Turkey. Clinically, infection with the Paederus species mimics contact dermatitis, herpes zoster, bullous impetigo, and phytophotodermatitis. Definitive diagnosis is made by historical and clinical findings.