- , , ә ұқ қ ң Қ- ә қ Ө- ә қ қғ қғ.
6.7.5. қ ұқ:
6.7.5.1. ұқ қ ң - ә.
6.7.5.2. қ , ң ң.
6.7.5.3. . ҳ ә ә.
6.7.5.4. ғ .
6.7.5.5. қ ө ғ.
6.7.5.6. -қ ңң ә, ә .
6.7.5.7. өң қ, құқққ .
6.7.5.8. ұқ қ ң -ғ әң ә қ әң ө.
6.8. қ:
6.8.1. қ ұқ:
6.8.1.1. қ ң , ң .
қ ү ү ө:
Ққ | ғ | |
-қ ә ң қ ғ қ қ ңң ғ ә | - , | Clinico-genealogical method - method based on analysis of pedigree of patients family aiming revealing genetic nature of disease |
ұғ,ә қ | , , , | -person, from whom begins drawing up pedigree, as a rule it is sick man |
-ғ-қ | Siblings brothers and sisters | |
қ ә қ ң ә | , | Cytogenetic method method of diagnosis of chromosomal diseases based on the analysis of patients karotype |
қ ә -ұқ қ ң ұ қ ә | Biochemical method method of diagnosis genetic forms of metabolic diseases | |
қ-қ ә -Қ ә | - , | Molecular-genetic methods - methods based on the analysis of DNA |
(-) - құғ ө қ қ ә ғ | (-) - () | Genodiagnosis (DNA-diagnosis) - methods using for detection of changes in the structure of genome (gene) |
-ң ә ұқ қ ғ ғ ғ қ ә | - , , , | Direct methods of DNA-diagnostics methods used in cases where the is known gene responsible for the occurrence of a genetic disease |
-ң ә қғ ғ қ ғ ғ Қ ә ү ә | - - , , , , , , - | Indirect methods of DNA-diagnosis methods used if gene, the damage of which leads to disease is not identified, but only localized in particular chromosome, or when the methods of direct DNA diagnostics fail |
қ ң ұқ қ ә ң ң қ қ қғ ә ң ү ө қ өң ү | - , , | Genetic counseling - specialized type of medical care of patients and their relatives with genetic pathology aiming to prevent birth of children with inherited or congenital disorder |
ғ - ү ғғ ғ қ ғ ң қ қ . | - , | Preimplantation diagnosis -diagnosis of genetic diseases of a human embryo before implantation into the uterus, before the beginning of pregnancy |
ғғ ү ә қ ө қ ә | Prenatal diagnosis methods of diagnosis of genetic disorders in pregnant women | |
- ұқң қ, ң ғ ә ү ә, қ ұқғ қ қ | - , , , , | Alpha-fetoprotein - fetal protein found in the blood of the fetus, newborn, pregnant women and in amniotic fluid. |
ұқ қ ң қ өң ә қ (ғ ), қң ғ ә (100%) ө | (100%) () , | Neonatal screening screening (analysis) of newborns based on testing of all (100%) newborns in population aiming early (preclinical) diagnosis, treatment and prevention of development of clinical signs of disease |
Құ: ғ қ ..
|
|
|
|
15-ә қ