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Cytogenetics > Module 1 - Overview and History > Flashcards

Module 1 - Overview and History Flashcards

Under First Long Lecture Coverage

1
Q
  • Scientific study of heredity
  • Study of genes and inheritance in living organisms
  • Inherited traits and their variations
  • Started in 19th Century
A

Genetics

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2
Q

Study of heredity of man

A

Human Genetics

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3
Q

Study of human genetic variation of medical significance

A

Medical Genetics

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4
Q

Five Groups of Medical Genetics

A 
Clinical Genetics
Molecular Genetics
Biochemical Genetics
Genetic Counseling
Cytogenetics
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5
Q

Provides diagnostic services for individuals at risk of genetic disorder

A

Clinical Genetics

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6
Q

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

A

Genetic Counseling

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7
Q

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

A

Molecular Genetics

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8
Q

Biochemical events involved in genetic disorders

A

Biochemical Genetics

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9
Q
  • Study of (inheritance in relation to structure and funtion of) chromosomes.
  • Testing samples of tissue, blood or bone marrow to look for chromosomal changes
A

Cytogenetics

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10
Q

Passing of genetic factor from one generation to the next

A

Heredity

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11
Q

Latin root of Heredity, ‘hereditat’ means…

A

Inheritance

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12
Q
  • An organized package of DNA found in the nucleus of the cell.
  • Consists of DNA and Protein (histones)
A

Chromosome

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13
Q

Human Chromosome:

A
  • 46, 23 pairs

- 22 autosomes and 1 pair of sex chromosome

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14
Q
  • Basic physical unit of inheritance.
  • Instructions for protein production
  • Passed from parent to offspring which carries information of specific traits
A

Gene (20K Genes arranged in one chromosome)

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15
Q

Causes of mutation

A

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

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16
Q

Types of Mutation

A

Somatic and Germ-line

17
Q

Mutation that occurs on the 22 pairs of body cells

-Not passed on

A

Somatic Mutation

18
Q

Mutation that occurs on the sex cells

-Transferrable to offspring

A

Germ-line Mutation

19
Q

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

A

Species

20
Q

Process by which organisms change over time

A

Evolution

21
Q

Three components of evolution

A

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

22
Q

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

A

Natural Selection

23
Q

Specific characteristic of an organism

- Determined by genes + environment

A

Trait

24
Q

Genetic contribution of a trait

A

Genotype

25
Q

Outward expression of the Genotype

A

Phenotype

26
Q

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

A 
Monogenic Trait
(Follows Mendelian inheritance)
27
Q

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

A

Polygenic Trait

28
Q
  • 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)

A

Mendelian Trait

29
Q

-One or two or more versions of a gene

A

Allele

People inherit one allele for each autosomal gene from each parent

30
Q
  • 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
A

Homozygous (BB or bb)

31
Q
  • Inherited different forms of a particular gene from each parent.
  • Both alleles at a locus are different
A

Heterozygous (Bb)

32
Q

Arab Physician that first described Hemophilia as a genetic disorder

A

Albucasis

33
Q
  • Austrian cytologist and professor of anatomy
  • Published chromosome illustrations on 1882
  • termed chromatin (stainable portion of nucleus) and mitosis
A

Walther Flemming

34
Q

Introduced the term ‘chromosome’ (colored body)

- dye fuchsin stained thread-like structure in the nucleus

A

Heinrich Wilhelm Gottfried Waldeyer

Cytogenetics (6 decks)

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