Physiopathology of a heredity



To diseases with inheritable predisposition relate:

1. Allergy, Diabetus mellitus, peptic ulcer

2. Albinism

3. Traumatic illness

4. phenilketonuria

5. syndrome Klainfelter’s

 

Inheritable illnesses caused by a pathological mutation for development of which the specific influence of environment is necessary:

1. Idiopathic hypertensia

2. Insufficiency of glucose -6- phosphatdehydrogenase in erythrocytes and as a consequence - hemolytic anemia, inheritance of pathological hemoglobin

3. Hemophilia

4. Thrombotic syndrome

5. hemorrhagic syndrome

 

Specify the basis of twin method of study of inheritable diseases:

1. Comparison of occurrence of attributes monozygotic twins with dizygotic, comparison of occurrence of attributes in monozygotic couples among themselves

2. Results of analysis of twins in general populations

3. Analysis of occurrence of diseases in general population

4. Analysis of spontaneous mutagenesis in population

5. study of genealogy

 

Specify the phenocopies of inheritable diseases:

1. Congenital blurred lens transmitted by recessive type

2. Congenital blurred lens in child mother of which was exposed to ionizing radiation

3. phenilketonuria

4. Phenyl-pyruvic oligophrenia

5. Polydactylia

 

Gametic mutations are:

1. Mutations arising in any cells

2. Mutation in germinal and sex cells

3. Mutations arising in embryogenesis

4. Mutation in somatic cells

5. mutations at a level of one chromosome

 

Specify what inheritable diseases exhibit in newborns:

1. Fish-skin disease, polydactylia

2. Chorea Gettington’s

3. Gout

4. Schizophrenia

5. phenilketonuria

 

Specify to what category of diseases hemophilia relates:

1. Shows in childhood

2. Shows for the first time in mature age

3. Shows already in newborn period

4. Arises in elderly age

5. Shows in senile age

 

To mutagenic factors relate:

1. Ionizing radiation, pesticides

2. Mechanical influence

3. High temperature

4. Infrared rays

5. low barometric pressure

 

Translocation at a level chromosome is:

1. Transmission of a part of a chromosome in other part of the same chromosome

2. Transmission of a part of chromosome on another chromosome

3. doubling of separate chromosomes

4. Fall out of a separate part of chromosome

5. Turning over of a part of chromosome

 

Specify inheritable diseases expressing on morphological level:

1. phenilketonuria

2. Galactosemia

3. Daltonism

4. Syndactylia, achondroplasia

5. hemophilia

 

Name inheritable diseases expressing on biochemical level:

1.alkaptonuria, phenilketonuria, galactosemia

2. Achondroplasia

3. Syndactylia

4. syndactylias

5. achondroplasias

 

Dominant gene is:

1. Gene determining illness, not expressed at the presence of its allele

2. expresses weakly

3. Gene bound with X-chromosome

4. a gene which will be expressed in subsequent generation

5. A gene which will not be expressed in subsequent generation

 

Diseases are inherited by dominant type:

1. phenilketonuria

2. Brachydactyly, chorea Gettington’s

3. microcephalia

4. Albinism

5. galactosemias

 

By recessive type the diseases are transmitted:

1. Albinism, microcephalia

2. Multiple neurofibromatosis

3. Achondroplasia

4. Brachydactyly

5. multiple chorea

 

Specify at what mode of inheritance there is a hidden heterozygous carriage of mutant gene:

1. dominant

2. Sex-linked

3. Recessive

4. semi-dominant

5. congenital illnesses

 

Mutation leading to development of a pathology and are transferred from generation to generation:

1. Induced

2. Somatic

3. Spontaneous

4. Gametic

5. translocation

 

Diseases caused by abnormal composition of sex chromosomes:

1. Syndrome Klainfelter’s, syndrome Shershevsky-Terner

2. Daltonism

3. Pigmentary retinitis

4. Inheritable chicken blindness

5. Illness Daun’s(mongolism)

 

Specify a hyvesselhesis which now is most correctly reflects the mechanism of development of inheritable diseases:

1. One gene - one enzyme

2. One gene – one attribute

3. Gene - enzyme-attribute

4. Gene - enzyme-biochemical reaction - attribute

5. One enzyme - one biochemical reaction - attribute

 

To biological mutagenes relate:

1. Virus of smallpox, rubella, epidemic parotitis

2. Metabolic products

3. Pesticides, herbicides

4. Ionizing radiation

5. mechanical influences

 

To моnogenic inheritable diseases (enzymopathy) relate:

1. Syndrome Shershevsky-Terner

2. Achondroplasia, galactosemia

3. Daun’s disease

4. Syndrome Klainfelter’s

5. idiopathic hypertensia

 

Specify features, characteristic for inheritable diseases:

1. Permanent, as a rule progress

2. In dynamics of their development are expressed protective-adaptive phenomenon

3. result in convalescence

4. Always result in destruction of an organism

5. fall into category of pathological processes

 

The most adequate methods of revealing of illness Daun’s are:

1. genealogy

2. twin study

3. Study of a karyotype, cytologic

4. Biochemical

5. Study of sex chromatin

 

Specify the most adequate method of revealing phenilketonuria:

1. twin study

2. cytologic

3. Biochemical

4. genealogy

5. Method of revealing of sex chromatin

 

The most adequate method of revealing of syndrome Shershevsky-Terner is:

1. Biochemical

2. twin study

3. examination of sex chromatin, buccal test

4.examination of a karyotype

5. genealogy

 

What from the given physical factors have mutagenic action:

1. Low temperature

2. Ultraviolet rays, X-ray

3. Action of small accelerations on the ground

4. Electrical current

5. high barometric pressure

 

To structural changes chromosome relate:

1. Deletion, transversion

2. Monosomy

3. Trisomy

4. Polyploidy

5. gaploidy

 

Synthesis of an enzyme is broken at phenilketonuria:

1. Oxydase of hemogentizin acid

2. phenilalaninhydroxilase

3. Tyrosinase

4. Catalase

5. Peroxidase

 

Diseases in which development the leading role belongs to inheritable factor:

1. Cretinism endemic

2. hemophilia, achondroplasia

3. Diabetus mellitus 2 types

4. Gout

5. peptic ulcers of stomach

 

Synthesis of an enzyme is broken at albinism:

1. Oxydase of homogentisic acid

2. phenilalaninhydroxilase

3. Tyrosinase

4. Catalase

5. Hydrolyzing enzyme

 

The disease in which originating plays a role hereditary factor and environment:

1. Hemophilia

2. Infectious

3. Sickle-cell anemia

4. Gout

5. Endemic cretinism

 

Inheritable diseases is:

1. The illnesses which are transferred from the parents to children and depend on damage of the genetic apparatus

2. Illnesses with which the man is born, do not depend on damage of the genetic apparatus

3. Illnesses arising in fetal life owing to illness of mother

4. Inheritable diseases

5. Phenocopy

 

To multifactorial diseases with inheritable predisposition relate:

1. phenilketonuria

2. Ischemic illness of heart, idiopathic hypertensia

3. Diabetus mellitus 2 type

4. hemophilia

5. albinism

 

Phenocopy is:

1. Any inheritable diseases

2. The diseases which are similar to inheritable but are not linked to damage of the genetic apparatus

3. Illness linked to fetal pathology

4. Constitutional anomalies

5. idiopathic hypertension

 

At treatment of hemophilia the principles are utilized:

1. Excluding therapy

2. oppressing coagulating system

3. stimulating nervous system

4. Symptomatic, replacing therapy

5. correcting immunity

 

Idiopathic hypertension, ischemic illness of heart, diabetus mellitus fall into group:

1. inheritable diseases

2. multifactor diseases with inheritable predisposition

3. Diseases which originate only under environmental factors

4. Diseases caused by a pathological mutation of genes

5. Bound with sex

 

Multifactor disease is:

1.The diseases where etiological role belongs to a pathological gene

2. diseases caused by a pathological mutation of a gene, however for their exhibition the specific influence of environment is necessary

3. Diseases where the basic etiological factor belongs to unfavorable influences of environment and realization depends from individual genetic predisposition of an organism

4. inheritable diseases

5. Diseases for which development the heredity does not play any role

 

Genomic mutations is:

1. Change of structure of separate genes

2. Change of structure of chromosome

3. Change of chromosome number in a panel which is not accompanied by changes of their structure

4. Change of structure of DNA

5. Redistribution of inheritable stuff in chromosome

 

Chromosome mutations is:

1. Change of chromosome number in a panel which is not accompanied by changes of their structure

2.Change of chromosome structure, translocation, deletion, inversion

3. changes of DNA

4. Polyploidy

5. changes of structure of one gene

 

Specify phenocopy of hereditary diseases:

1. Congenital cataract transmitted on recessive type

2. Congenital cataract in a child whose mother was treated by X-ray

3. Phenylcetonuria

4. Phenylpiro oligophrenia

5. Polydactilia

 

Translocation at a level of chromosomes is:

1. Transfer of a part of chromosome to other part of the same chromosomes

2. Transfer of a part of chromosome on other chromosome

3. Doubling of chromosomes

4. Loss of a separate part of chromosome

5. Inversion of a part of chromosome

 

Damage of genes programming synthesis of reparation enzymes of damaged genotype results in development of:

1. Ichtiosis

2. Illnesses of Down

3. Athaxia

4. Brachydictilia

5. Syndrome of Terner

 

Specify to what category of diseases hemophilia relates:

1. It is shown in the childhood

2. It is shown for the first time at mature age

3. It is shown already in the period of newborn

4. Arises at advanced age

5. It is shown at old age

 

On dominant type diseases are inherited:

1. hemophilia

2. brachydictilia

3. Trochee Gettington

4. microcephalia

5. Albinism

 

Specify with what type of inheritance latent heterozygotic carrying of a mutant gene exists:

1. Dominant

2. Linked to sex

3. Recessive

4. semidominant

5. Congenital illnesses


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