Tunçbilek Ergül, Ozgüç Meral
Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2007 Oct-Dec;49(4):353-9.
Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing factor to the high incidence of some rare autosomal recessive diseases. Hemoglobinopathies are an important health problem, and Turkey also has one of the highest incidences of phenylketonuria in the world. Training and education in medical genetics, established as a specialty since 1972, play an important role in the setting of genetic services and meeting public health problems. Prenatal and preimplantation diagnosis is available for a variety of fetal diseases.
土耳其是世界上人口最多的国家之一，且人口结构年轻化。在过去25年里，近亲结婚率约为20%至25%。多项研究表明，高近亲结婚率可能是某些罕见常染色体隐性疾病高发的一个促成因素。血红蛋白病是一个重要的健康问题，土耳其也是世界上苯丙酮尿症发病率最高的国家之一。自1972年起作为一个专业设立的医学遗传学培训和教育，在提供遗传服务及解决公共卫生问题方面发挥着重要作用。对于多种胎儿疾病都可进行产前诊断和植入前诊断。
