RESUMO
Keratoconus (KC) is a multifactorial, progressive, degenerative corneal disorder with an incidence of approximately 1 in 2,000 subjects.
Assuntos
Ceratocone/enzimologia , Superóxido Dismutase-1/metabolismo , Fatores de Transcrição/metabolismo , Humanos , Ceratocone/genética , Superóxido Dismutase-1/genética , Fatores de Transcrição/genéticaRESUMO
Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative corneal disorder, with incidence of approximately 1 per 2000 of the population. KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes which interact with environmental, genetic and/or other factors. The present report focuses on the VSX1 gene, for which there is general agreement that it is involved in KC and other corneal pathologies, and critically details the evidence for its involvement in KC.
Assuntos
Proteínas do Olho/genética , Proteínas de Homeodomínio/genética , Ceratocone/genética , HumanosRESUMO
The frequency of alpha-thalassaemia in Cyprus was determined with studies of haemoglobin Bart's in 1200 Greek Cypriot and 132 Turkish Cypriot newborn babies. Of the Greek newborns, 12.4%, and of the Turkish newborns, 6.8% had raised Hb Bart's (from 0.6% to 12.9% of the total haemoglobin) suggesting that they were carriers of either alpha-thalassaemia-1 or alpha-thalassaemia-2 genes. The findings suggest that the population of Cyprus has the highest frequencies of alpha-thalassaemia among Caucasian people.
Assuntos
Hemoglobinas Anormais/genética , Talassemia/genética , Pré-Escolar , Chipre , Frequência do Gene , Grécia/etnologia , Heterozigoto , Humanos , Recém-Nascido , Turquia/etnologiaRESUMO
Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is common in the Mediterranean area. Two individuals in this family were heterozygous for both Hb Lepore and beta thalassaemia, but they exhibited striking differences in the clinical severity and course of the disease. The data illustrate that additional environmental or genetic factors play roles in determining or modifying the pathophysiological consequences of highly specific molecular defects and, thus, their ultimate clinical phenotypes.
Assuntos
Troca Genética , Genes , Hemoglobinas Anormais/análise , Aminoácidos/análise , Criança , Chipre , Feminino , Humanos , Mutação , Linhagem , Peptídeos/análise , Talassemia/genéticaRESUMO
Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian population.
