ABSTRACT. We examined the distribution and demographic characteristics of congenital anomalies in a Turkish province for five years. The records of 63,159 live births between 2000 and 2004 were examined retrospectively. Major congenital anomalies were classified according to year, organ system, gender, family relationship, maternal age, mortality rate, and method of delivery. There were 183 cases of major birth defects among 63,159 live births, giving a prevalence of 2.9/1000. Anomalies of the central nervous system were the most common defect (31%), followed by cleft palate/lip (19%), musculoskeletal system anomalies (14%), and chromosomal anomalies (13%). Among the infants with major anomalies, 14% did not survive, 56% were delivered vaginally, and 25% were miscarried. There was a significant increase in rate of major congenital anomalies during the five-year period.

All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.

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ABSTRACT. Accumulation of hydrogen peroxide (H 2 O 2 ) and low catalase (CAT) activity have been demonstrated in the epidermis of vitiligo patients. We investigated a possible association between the CAT exon 9 (Asp-389) gene and vitiligo susceptibility in the Turkish population. Thirty-four patients with vitiligo and 49 gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by PCR-RFLP. The CAT exon 9 (Asp-389) genotype and allele frequencies of vitiligo patients did not differ significantly from those of ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (4): 4126-4132 (2011) Catalase gene polymorphisms and vitiligo 4127 healthy controls. We found no association between CAT (Asp-389) gene polymorphism and vitiligo susceptibility in Turkish vitiligo patients.

Purpose: The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey. Methods: Data were collected by questionnaire about physicians' approaches to genetics and genetic counseling. Results: A total of 60 (60.0%) of 100 physicians working in Denizli province returned a questionnaire. Physicians described "their most knowledgeable subjects" in basic genetic information as chromosome abnormalities (41.8%), in genetic disorders as xeroderma pigmentosum (80.0%), and in genetic counseling as directing the parents of and couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center (94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course. Conclusions: As a result of this study, a genetics course is planned for physicians so they can actively participate in the prevention and early diagnosis of genetic diseases. Genet Med 2007:9(2):130-135.