Advices for Life

Genetic Studies

December 01, 2016 00:09

Genetic studies

In recent years there has been an increase in the proportion of hereditary diseases in the general structure of diseases.In this regard, the role of genetic research in medical practice.Without medical genetics knowledge is impossible to effectively diagnose, treatment and prevention of hereditary and congenital diseases. Hereditary predisposition is probably inherent in virtually all dise...

October 12, 2016 23:19

Analysis of restriction fragment length polymorphisms

Extensive use of various restriction endonucleases for analysis of chromosomal DNA revealed a huge variation in the human genome.Even small changes in the regulatory regions and encoding structural genes can lead to the termination of a certain protein synthesis or loss of its function in the human body that usually affects the phenotype of the patient.However, approximately 90% of the huma...

October 11, 2016 23:17

Diagnosis of syndromes caused by aberrations of autosomes

Karyotyping - the main method of diagnosis of these syndromes.It should be noted that the methods for detecting chromosome segmentation accurately identify patients with specific chromosomal abnormalities, even in cases where the clinical manifestations of these abnormalities are minor and malospetsifichny.In severe cases karyotyping may be supplemented by hybridization in situ . Down syn...

October 11, 2016 23:17

Diagnosis of syndromes caused by aberrations of sex chromosomes

Sex in humans is determined by a pair of chromosomes - X and Y. The female cells contain two chromosomes X, in the cells of men - one X chromosome and the Y chromosome Y. One - one of the smallest in a karyotype, only a few genes are found in itnon-sex regulation.Chromosome X, on the other hand, one of the largest in the group, contains hundreds of genes, most of which have nothing to do wi...

October 11, 2016 23:17

Diagnosis of multifactorial diseases

Many of the phenotypic characteristics of human controlled a large number of genes.Each of these genes is independent of the others.The likelihood that an individual will receive a lot of genes acting in the same direction is small.A certain contribution to the normal distribution of genes by environmental factors contribute.In most cases, the variability of phenotypic characteristics in a ...

October 11, 2016 23:17

Diagnosis of monogenic disorders

Monogenic defects (deterministic single gene) were more frequent than chromosome.Diagnosis of disease usually begins with a review of clinical and biochemical data, the pedigree of the proband (the person who first identified the defect), the type of inheritance.Monogenic diseases can be autosomal dominant, autosomal recessive and X-linked types of inheritance.Currently it identified over 4...

October 11, 2016 23:17

Genetic Screening

Genetic testing can be used in the event of risk of occurrence of a genetic disorder in the family.Such testing is acceptable only in the case where the structure is well understood genetic inheritance disorders, therapy can be effective and implemented robust, reliable, highly sensitive, specific and harmless methods of analysis.The predominance of a certain generation should be high enoug...

October 11, 2016 23:17

Molecular diagnosis of prostate cancer

history biomarker diagnosis of prostate cancer (PCa) has three quarters of a century.In his studies, ABGutman et al.(1938) noted a significant increase in the activity of acid phosphatase serum of men with metastatic prostate cancer.Later it was developed more accurate method of determining prostatspetsifichnoy subfraction acid phosphatase (PAP).Despite the low sensitivity and specificity (...