Module 1 - Overview and History

Question 1

• Scientific study of heredity
• Study of genes and inheritance in living organisms
• Inherited traits and their variations
• Started in 19th Century

Answer 1

Genetics

Question 2

Study of heredity of man

Answer 2

Human Genetics

Question 3

Study of human genetic variation of medical significance

Answer 3

Medical Genetics

Question 4

Five Groups of Medical Genetics

Answer 4

Clinical Genetics
Molecular Genetics
Biochemical Genetics
Genetic Counseling
Cytogenetics

Question 5

Provides diagnostic services for individuals at risk of genetic disorder

Answer 5

Clinical Genetics

Question 6

Giving advice or orientation to the relatives of a recorded genetic disorder case

Answer 6

Genetic Counseling

Question 7

Tackles different molecules behind how a person would get a genetic disorder

Answer 7

Molecular Genetics

Question 8

Biochemical events involved in genetic disorders

Answer 8

Biochemical Genetics

Question 9

• Study of (inheritance in relation to structure and funtion of) chromosomes.
• Testing samples of tissue, blood or bone marrow to look for chromosomal changes

Answer 9

Cytogenetics

Question 10

Passing of genetic factor from one generation to the next

Answer 10

Heredity

Question 11

Latin root of Heredity, ‘hereditat’ means…

Answer 11

Inheritance

Question 12

• An organized package of DNA found in the nucleus of the cell.
• Consists of DNA and Protein (histones)

Answer 12

Chromosome

Question 13

Human Chromosome:

Answer 13

• 46, 23 pairs

- 22 autosomes and 1 pair of sex chromosome

Question 14

• Basic physical unit of inheritance.
• Instructions for protein production
• Passed from parent to offspring which carries information of specific traits

Answer 14

Gene (20K Genes arranged in one chromosome)

Question 15

Causes of mutation

Answer 15

(1) Cell division error
(2) Exposure to ionizing radiation
(3) Exposure to mutagens
(4) Infection by viruses [HPV - Cervical Cancer]

Question 16

Types of Mutation

Answer 16

Somatic and Germ-line

Question 17

Mutation that occurs on the 22 pairs of body cells

-Not passed on

Answer 17

Somatic Mutation

Question 18

Mutation that occurs on the sex cells

-Transferrable to offspring

Answer 18

Germ-line Mutation

Question 19

A group of organisms that share genetic heritage thus able to interbreed and create an offspring

Answer 19

Species

Question 20

Process by which organisms change over time

Answer 20

Evolution

Question 21

Three components of evolution

Answer 21

(1) Common ancestor
(2) Gradual change/time
(3) Natural selection

Question 22

Process that results adaptation which causes changes to its genotype; Causes adaptation.

Answer 22

Natural Selection

Question 23

Specific characteristic of an organism

- Determined by genes + environment

Answer 23

Trait

Question 24

Genetic contribution of a trait

Answer 24

Genotype

Question 25

Outward expression of the Genotype

Answer 25

Phenotype

Question 26

A trait produced by the effect of a gene or an allele

Answer 26

``` Monogenic Trait (Follows Mendelian inheritance) ```

Question 27

A trait whose phenotype is influenced by more than one gene and the environment; also called multifactorial.

Answer 27

Polygenic Trait

Question 28

- Any trait that can be passed down progeny. | - Categoric trait that segregates in accordance with a single-locus genetic system (specific area of a chromosome)

Answer 28

Mendelian Trait

Question 29

-One or two or more versions of a gene

Answer 29

Allele | People inherit one allele for each autosomal gene from each parent

Question 30

- A genetic condition where an individual inherits the same alleles for a particular gene from both parents. - Both alleles at a locus are the same

Answer 30

Homozygous (BB or bb)

Question 31

- Inherited different forms of a particular gene from each parent. - Both alleles at a locus are different

Answer 31

Heterozygous (Bb)

Question 32

Arab Physician that first described Hemophilia as a genetic disorder

Answer 32

Albucasis

Question 33

- Austrian cytologist and professor of anatomy - Published chromosome illustrations on 1882 - termed chromatin (stainable portion of nucleus) and mitosis

Answer 33

Walther Flemming

Question 34

Introduced the term 'chromosome' (colored body) | - dye fuchsin stained thread-like structure in the nucleus

Answer 34

Heinrich Wilhelm Gottfried Waldeyer