Genetics

Question 1

branch of medical science which studies genes and pattern of inheritance of diseases

Answer 1

genetics

Question 2

greek “gene” means

Answer 2

to become/grow into

Question 3

the first person to use the term genetics in describing heredity and biological inheritance.

Answer 3

william bateson

Question 4

“father of modern genetics”

experimented with pea plants

Answer 4

gregor mendel

Question 5

the transmission of familial
elements from one generation to the next.

Answer 5

inheritance

Question 6

basic unit of genetic information.

determine the inherited characters; functional subunit of DNA and contain
instruction for making protein.

Answer 6

gene

Question 7

storage units of genes

structure within the cell that deliver the genetic material as DNA

Answer 7

chromosomes

Question 8

a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life.

Answer 8

DNA

Question 9

encodes the genetic information

Answer 9

molecule

Question 10

collection of genetic information

Answer 10

genome

Question 11

a diagrammatic
representation of
diseases history in a
family up to 3rd degree
relative

Answer 11

genetic pedigree

Question 12

human cell contains

___# pairs of chromosome.
___# pairs of autosomal.
___# pair sex chromosomes

Answer 12

23 # pairs of chromosome.
22 # pairs of autosomal.
1 # pair sex chromosomes

Question 13

___# of chromosomes inherited from mother.

___# of chromosomes inherited from mother.

Answer 13

23 # from mother
23 # from father

Question 14

sex chromosome for female __

Answer 14

XX

Question 15

sex chromosome for male

Answer 15

XY

Question 16

means abnormal
gene which can not perform its
function in proper way.

Answer 16

mutant gene

Question 17

individual who is known to have disease

Answer 17

affected individual

Question 18

individual who appear normal

but has one copy of mutant gene

Answer 18

carrier individual

Question 19

a process by which and individual at risk of an inherited disorde are advised of the consequences and nature of the disorder in order to prevent or avoid it

Answer 19

genetic counseling

Question 20

(5) aims of genetic counseling

Answer 20

to provide the family with complete and accurate information about genetic disorders by:

1. promoting informed decisions of involved
   family members
2. clarifying the family’s options available treatment and prognosis
3. explaining alternatives to reduce the risk of
   genetic disorders
4. decreasing the incidence of genetic disorders
5. reducing the impact of the disorders

Question 21

(4) function of genetic counselling session

Answer 21

1. provide information
2. available solution
3. help person to understand and cope with condition
4. testing the risk of recurrence

Question 22

(8) indications for genetic counseling

Answer 22

1. hereditary disease in a patient or family
2. birth defects
3. mental retardation
4. advanced maternal age
5. early onset of cancer in family
6. miscarriages
7. malformations (Klinefelter syndrome)
8. tendency to develop a neurologic conditions (trisomy 13 & 18 syndrome, CRI-DU-CHAT syndrome, turner syndrome, fragile X syndrome, down syndrome)

Question 23

(4) information conveyed in genetic counselling

Answer 23

1. magnitude of risk of occurrence or
   recurrence
2. impact of disease on patient and family
3. modification of disease impact or risk
4. anticipated future development

Question 24

(5) components of genetic counseling process

Answer 24

1. contracting
2. information gathering
3. physical examination
4. risk assessment
5. education about genetic condition

Question 25

(3) steps of genetic counselling

Answer 25

1. diagnosis 2. prognosis 3. treatment

Question 26

(6) diagnosis includes

Answer 26

1. predictive testing 2. pre-symptomatic testing 3. carrier testing 4. pre-natal diagnosis 5. pre-implantation studies 6. newborn screening

Question 27

(4) aspects of prognosis

Answer 27

1. how long a person with the disorder is likely to live (life expectancy) 2. signs and symptoms worsen (and how quickly) or are stable over time 3. quality of life, such as independence in daily activities 4. potential for complications and associated health issues

Question 28

treatment varies by

Answer 28

depending on the specific disease

Question 29

a genetic counselor shoud be:

Answer 29

1. post-graduates health professionals with a graduate diploma or Master's in genetic counseling. 2. a team of physician, nurse and social worker who undergone special training in genetic counseling 3. engage themselves in research activities related to the field of medical genetics & genetic counseling

Question 30

(4) roles of genetic counselors

Answer 30

1. provide genetic information. 2. counselling skills, including their ability to empathically connect with their patients 3. Uses non-directive counseling method to provide the best service to those who need them 4. to develop a mutual relationship with the client

Question 31

(3) nurse as a genetic counselor

Answer 31

1. important role in follow up, clarifying information, providing continuous support to the grieving process as appropriate 2. helps to decrease the risk of transmitting the disorder 3. discuss along with genetic counselor and family members on alternative arrangement as adoption, artificial insemination, surrogate pregnancy, prenatal diagnosis with selective abortion, prenatal treatment, curative treatment ,gene-therapy and fetal surgery

Question 32

(4) genetic counselling ethics

Answer 32

1. respect the right of individual (autonomy) 2. non- directive approach 3. keep privacy of individual and family 4. maintain the communication between counsellor and his client

Question 33

a search in apparently normal population for individual with abnormal genes which increase their risk or their offspring of being affected by a disease.

Answer 33

genetic screening

Question 34

(4) types of genetic screening

Answer 34

1. carrier identification 2. prenatal diagnosis 3. newborn screening 4. forensic screening (paternity test

Question 35

(3) factors to consider in genetic screening

Answer 35

1. many diseases have genetic root 2. genetic screening is an essential issue in most stages of the life. 3. aim is to bridge the gap for people between genetic field complexity and their life