1-50 Flashcards
- How do you achieve the high mitotic activity of lymphoid cells in the cytogenetic research?
By acting with phytohaemagglutinin
- What material is the source of genomic DNA in obtaining DNA or RNA samples?
Culture of fibroblast,
Peripheral blood
Chorion,
Aminotic cells. This All and. Are correct
- Determine who and when has firstly organized the medico-genetic counseling in the world:
S.N Davindenkon in 1920
- Amniocentesis is …
Puncture of fetal bladder to take amniotic fluid with the cells of the amnion and fetus in it
- How do you achieve (during the cytogenetic method) the destruction of spindle division and stop cell division at the stage of metaphase?
By acting with a solution of colchicine
- What is the essence of the cytogenetic method in studying human heredity?
Study chromosomes with microscope
- What are the indications for the biochemical research?
The lag is physical development hepatosplenomegaly, intolerance to any food
- List the stages of medical-genetic consulting:
Diagnosis, prediction, conclusion ,recommendation
- Cordocentesis is …
Blood sampling from the umbilical vessels of a fetus for cytogenetic,molecular-genetic and biochemical analysis of blood
- What method of studying heredity used in the diagnosis of chromosomal diseases?
Cytological
- What material used for the cytological method which investigates heredity?
A scraping in oral mucosal,
Blood cells,
Skin epithelium,
Amniotic fluid, this all ans. Are correct
- What does the term “siblings” mean?
Children of one parent’s couple
- Why do you use the twin methods for studying human heredity?
To assess the relative rule of heredity and environment in the development of trait
- What proportion of children in the first generations will exhibit a dominant trait, if one parent is heterozygous with dominant allele and the other is homozygous with recessive?
50%
- What does the term “proband” mean?
The person whom conducts the study of pedigree
- Identify the characters accepted for designation in the pedigrees of female family members:
Circle
- What percentage of children will inherit the pathology, if both parents are heterozygous with dominant allele controlling hereditary disease?
75%
- What is the essence of the biochemical method?
The use of a system of qualitative and quantitative tests, which allows to catch the disturbed content of metabolic products
- What is the disadvantage of human as an object of genetic research?
All answer are correct
- Identify the hereditary disorder caused by violotation of amino acid metabolism
Phenylketonuria
- Phenylketonuria was first described by
A.fehling
- Select type of inheritance in albinism
Autosomal recessive
- Identify the hereditary disorder caused by violotation of carbohydrates metabolism
Galactosemia
- What is characteristic of Tay-Sachs disease:
Reduced activity of hexosaminidase A in the body; deposition of ganglioside in brain cells. Liver cells, spleen cells and other organs; destruction of axons in nerve cells
- Identify the hereditary disorder of connective tissue:
Marfan syndrome
- What are the typical features for patients with Marfan syndrome?
Tall , long arachnid fingers, chest deformation,flat feet, subluxation of the lens , arortic aneurysm
- Select type of inheritance in Marfan syndrome?
Autosomal dominant
- Identify the hereditary disorder caused by violotation of lipid metabolism
Tay-sachs disease
- Sickle cell anemia was first discovered by
G.Herrick
- Select type of inheritance in mucopolysaccharidosis?
Autosomal recessive
- Which of the following hereditary diseases refers to hemoglobinopathies?
Thalassemia
32.What is characteristic of mucopolysaccharidosis disease:
Violation of metabolism of acid glycosaminoglycls in the body leads to insufficiency of lysosomal enzymes
33.Which of the following hereditary diseases refers to multifactorial?
Psoriasis
34.What disease related to multifactorial diseases?
.Schizophrenia.
35.What are the typical features for patients with phenylketonuria?
Convulsive syndrome,tendency to develop dermatitis,urine and sweat of patients have a characteristic odor(mousy odor),oligophrenia.
36.Select type of inheritance in galactosemia?
Autosomal recessive.
37.Select the method of genetic predisposition to some infectious diseases such as tuberculosis:
Twin method
38.Identify chromosomal disease associated with increasing number of sex chromosomes:
Klinfelters syndrome.
39.Isochromosome is …..
CHROMOSOME WITH REPETITIVE GENETIC MATERIAL IN BOTH SHOULDERS
40.What syndrome is characterized by following symptoms: microcephaly, sloping forehead, narrow eye slits, nose defect, low-set ears and deformed, cleft lip and cleft palate, polydactyly (extra digits), heart defects, kidney defects?
Patau syndrome
41.The Cri du chat syndrome was firstly described by….?
J.Lejeune,in 1963
42.Identify the possible formula of karyotype according to the following symptoms: short, a short neck, barrel-shaped rib cage, delayed sexual development.
45,X0
43.What kind of syndrome below caused by the rearrangement in chromosome?
Wof-hirschkorn syndrome
44.What intervals of age significantly increase in childbirth the risk of chromosomal abnormalities?
Age 35- 40
45.Determine the karyotype of Klinefelter syndrome:
47,XXY
46.Determine the karyotype of Edwards syndrome:
47,XX,18+
47.Determine chromosomal disease which is associated with decreasing in the number of sex chromosomes:
Turners syndrome
48.The occurrence of ring chromosomes is…
The linkage of the two terminal deletions in both shoulders of the chromosome.
49.What syndrome are characterized by the following symptoms: slanted eyes, a round face with a flat profile, small nose, A missing nose bone, epicanthus folds, Small ears , a large tongue that may protrude from the mouth, heart defects, clinodactyly?
Down’s syndrome
50.18 trisomy was firstly described by:
Edwards, in 1960
