RESUMO
Genetic analysis was carried out on the material including clinic and genealogical data about 510 patients with type 2 Diabetes Mellitus, 445 Essential Hypertension individuals, 239 abdominal obesity persons and their 1st degree relatives. It has been shown that the Essential Hypertension and abdominal obesity distribution in the population and families can be described by means of a variants polygene model with essential influence of the major genes. Gene complexes of predisposition to obesity, Essential Hypertension and Type 2 Diabetes Mellitus are independent, however, their liabilities are covered.
Assuntos
Constituição Corporal , Predisposição Genética para Doença , Síndrome Metabólica/genética , Característica Quantitativa Herdável , Adulto , Constituição Corporal/genética , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Feminino , Testes Genéticos , Genética Populacional , Humanos , Hipertensão/epidemiologia , Hipertensão/genética , Masculino , Síndrome Metabólica/epidemiologia , Obesidade Abdominal/epidemiologia , Obesidade Abdominal/genética , LinhagemRESUMO
The authors observed 149 patients with nodal goiter and 39 patients with thyroid cancer for thyroid cancer risk factors. Frequency of thyroid cancer, malignancies and thyroid gland diseases was studied in the families of the observed patients. BRAF T1796A gene mutation was identified in 50 tissue samples of thyroid cancer of the patients. It has been shown, presence in relatives thyroid cancer and malignant new growths is thyroid cancer risk factor. BRAF T1796A mutation was identified in 27% of papillary thyroid cancer samples and its identification may be used to determine this risk factor of the development of papillary thyroid cancer clinical form.
Assuntos
Adenocarcinoma Papilar/etiologia , Predisposição Genética para Doença , Bócio/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/genética , Adenocarcinoma Papilar/epidemiologia , Adenocarcinoma Papilar/genética , Feminino , Bócio/epidemiologia , Humanos , Masculino , Mutação , Linhagem , Fatores de Risco , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/etiologiaRESUMO
On genealogic data about 242 Gravers disease patients, fertility parameters of 2105 healthy and 369 Grave's disease women peculiarities of genetic determination and natural selection of disease were studied. Results of the genetic analysis have revealed conformity of Grave's disease inheritance to alternative model parameters. Homozygote penetrance within the framework of this model was 78.8%, heterozygote--17.3%. For one generation in the Kharkov area population frequency of a gene to Grave's disease predisposition increases 0.8%.
Assuntos
Predisposição Genética para Doença , Genética Populacional , Doença de Graves/genética , Seleção Genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Doença de Graves/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Linhagem , Prevalência , Ucrânia/epidemiologia , Adulto JovemRESUMO
Latent autoimmune diabetes in adults (LADA) genetic determination was studied. It has been shown that LADA is genetically independent diabetes mellitus clinical form. Its heredity predisposition is described by polygene threshold model. In this model the genetic factors play the essential role and there are non-linear genetic interactions. High amount of the common genes with type 1 and 2 diabetes mellitus in LADA liability (65.3 and 66.1%) causes peculiarities of its clinical course (presence of islet cell autoantibodies, insulin-dependency and necessity in insulin therapy).
Assuntos
Doenças Autoimunes/genética , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Modelos Genéticos , Adulto , Doenças Autoimunes/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Heterozigoto , Humanos , Núcleo FamiliarRESUMO
The genetic determination of insulin-dependent (IDDM) and non-insulin-dependent (NIDDM) diabetes mellitus and thyroid gland diseases (TGD) was carried out using clinical-genealogical data on 229 patients with IDDM, 275 patient with NIDDM, 247 patients with TGD and their relatives. Results of component decomposition showed the role of genetic factors in the determination of these diseases and the existence of interloci interaction in genetic control of IDDM and NIDDM. The genetic independence of these diseases and genetic homogeneity of NIDDM were revealed using models of Ch. Smith and T. Reich.
Assuntos
Doenças Autoimunes/genética , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Doenças da Glândula Tireoide/genética , Adulto , Envelhecimento/genética , Alelos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , FenótipoRESUMO
The pedigrees of 484 patients suffering from diabetes mellitus have been investigated. It was found that the ratio of genes inducing insulin-dependent and insulin-independent diabetes mellitus differs in the groups of patients with different forms of disease.
Assuntos
Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Adulto , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , FenótipoRESUMO
A total of 389 patients with diabetes mellitus were examined. A genetic analysis has shown a most high possibility of diabetes in the sibs of patients with type II diabetes and secondary insulin dependence. The authors put forward a hypothesis that secondary insulin dependence formation in diabetics with type II condition results from interactions of two gene complexes with a recessive effect, responsible for types I and II diabetes mellitus development. They suggest a model of age-dependent epistasis with an 'insulin-dependence' gene quantitative effect.
Assuntos
Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Adulto , Envelhecimento/genética , Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 2/fisiopatologia , HumanosRESUMO
A study of the Kharkov population revealed the effect of parent exogamy for liability of the progeny to diabetes mellitus that was more pronounced in sons than in daughters. Minimum genetic effect on the formation of diabetes mellitus concerns the group of reduced exogamy. In type I diabetes mellitus, the maximum genetic effect concerns the group of moderate exogamy, in type II diabetes--the group of elevated exogamy.
