4.1 -4.3 Textbook Flashcards

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1
Q

What is a zygote

A

A fertilized egg cell

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2
Q

Blastocyst

A

Four days of zygote development. It’s a hallow ball of cells surrounding an inner cluster of cells

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3
Q

When the inner cells of the blastocyst divide___________________

A

They begin to specialize

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4
Q

Trait

A

Characteristic of organism, ex hair colour, sound of voice.
Some we inherit, some we acquire

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5
Q

What was the misconception on where/what genetic material is.

A
  • Proteins
  • proteins have similar properties to DNA bcuz some genes code for proteins by determining the amino acid sequence
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6
Q

Genes

A

Units of inherited info that carries a code for specific traits or functions

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7
Q

Chromatin

A
  • very long fibres that contain DNA
  • combo of proteins & DNA
  • very thin & usually visible with light microscope
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8
Q

When was DNA discovered?

A

Mid 1900

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9
Q

Chromosome is a __________

A

One long condensed DNA molecule contain hundreds or thousands of genes

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10
Q

A human body cell contains enough DNA to stretch about _________

A

2m in length.

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11
Q

Histones

A

Protein that the DNA in chromatin is tightly coiled around

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12
Q

Nucleosome

A

Bead like structure formed by the DNA and histone packages

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13
Q

X-ray crystallography

A
  • Technique that uses x-rays to determine the geometry or arrangement of atoms in a molecule.
  • Rosalind Franklin used it in 1950s to determine a form of a spiral of helix
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14
Q

Who came up with the DNA model

A

Using Franklin’s work, Scientists James Watson and Francis Crick modelled DNAs structure

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15
Q

Nucleotides

A

DNA consists of a long chain of subunits

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16
Q

3 parts of nucleotides

A
  • a ring-shaped sugar called deoxyribose
  • a phosphate group
  • a nitrogen base (aka base): a single or double ring of carbon and nitrogen atoms.
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17
Q

4 types of nucleotides in Dna, differing in only nitrogenous bases. What are the 4 bases

A

Pyrimidines:Single ring structures—>thymine (T) & cytosine (C)
Purines: larger & double-ring structures—>Adanine (A) & Guanine (G)

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18
Q

What are covalent bonds are used for?

A

Nucleotides are joined to
one another by covalent bonds that connect the sugar of one nucleotide
to the phosphate group of the next. This repeating pattern of sugar-phosphate is called the sugar-phosphate backbone

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19
Q

“complementary” bases & hydrogen bonds

A

Adenine (A) & thymine (T) = 2 hydrogen bonds; guanine (G) & cytosine (C) = 3 hydrogen bonds

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20
Q

The cell prepares for cell
division by

A

increasing its protein supply, creating more cytoplasmic organelles, and growing in size

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21
Q

In animal cells, cytokinesis occurs along a ________

A

cleavage furrow

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22
Q

Telomere

A

Every time a eukaryotic cell’s DNA replicates, the ends of each
chromosome lose a small amount of DNA. However, chromosomes have
protective end caps called telomeres. Telomere DNA does not contain
information for making proteins. When a cell’s DNA replicates, the
telomeres shorten slightly, but the chromosomes will not lose essential
information if enough telomere DNA remains. With successive rounds of
cell division, the telomeres eventually become too short, and cells can no
longer divide. The ability to replace telomere DNA allows some cells to
divide frequently.

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23
Q

What cells don’t divide

A

Red blood cells & Brain cells

24
Q

HeLa cells

A

Cervical cancer cells from Henrietta Lacks (died 1951)

25
Q

metastasize

A

cancer cells spread into other tissues or organs of the body

A malignant tumour displaces normal tissue as it grows.

26
Q

skin cells divide every

A

few days

27
Q

Highly specialized muscle cells divide. T or F

A

F

28
Q

Single celled organisms usually only undego_____

A

mitosis

29
Q

what does the presence of a nucleolus indicate?

A

The presence of the nucleolus, a dark-staining region of the nucleus,
indicates that the cell is actively making proteins.

30
Q

a karyotype

A

, a display of all the chromosomes in a diploid cell of an individual in homologous pairs from largest pair to smallest

Notice that each of chromosome in a pair are near twins that resemble
each other in size and shape. You inherit one chromosome of each pair from each parent

31
Q

sexual reproduction

A

The process in which two parents provide genetic material in order to
produce offspring

32
Q

A developmental disability

A

is a lifelong disability due to mental or
physical impairment. Developmental disabilities can be caused by social,
environmental, or physical factors. Some of the physical factors include
abnormalities in genes or chromosome numbers.

33
Q

Trisomy

A

is a condition
in which an individual has three copies of a particular chromosome.

34
Q

Patau
syndrome

A
  • Trisomy 13
  • Affects approximately 1 in 16 000 live births.
    -severe intellectual
    disability and physical abnormalities. Individuals have heart defects, brain or spinal cord abnormalities, small or poorly developed eyes, extra fingers and/or toes, a cleft lip,
    and weak muscle tone.
  • Only 5 –10% of babies survive past their first year.
35
Q

Edwards
syndrome

A

-Trisomy 18
- Affects approximately 1 in 5000 live births.
- severe intellectual disability and low birth weight; a small, abnormally shaped head; a small jaw
and mouth; clenched fists; heart defects; and other organ abnormalities.
- Only 5 –10% of
babies survive past their first year.

36
Q

Down
syndrome

A
  • Trisomy 21 or translocation between chromosome 14 or 21
  • Affects approximately 1 in 800 live births.
  • a mild to moderate intellectual and developmental disability, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.
  • live till mid age
  • below av height
  • heart and immune system defects
37
Q

Klinefelter
syndrome

A
  • XXY
  • Affects approximately 1 in 500 to 1 in 1000 males.
  • affects male sexual
    development and results in small testes that do not produce enough testosterone.
    The shortage of testosterone can lead to breast enlargement, reduced facial and body
    hair, and infertility.
  • Some affected boys are very shy and/or have learning disabilities.
  • Testosterone injections help treat the condition.
38
Q

Carrier testing

A

can determine if an individual carries a
copy of a mutation that his or her children could inherit.

39
Q

Cystic fibrosis

A

Can be carrier disease: causes debilitating disease of the lungs and digestive system.
- due to base pair changes

40
Q

Tay-Sachs disease

A

Can be carrier disease: most common
among French Canadians and certain Jewish populations, attacks an
infant’s nervous system and results in death by five years of age.
- due to base pair changes

41
Q

presymptomatic (predictive)
testing

A

A person with a family history of a genetic condition may want
to undergo genetic testing to find out his or her risk of developing the
condition

42
Q

Diagnostic genetic testing

A

used to confirm a diagnosis
when symptoms for a particular genetic condition are present.

43
Q

Diagnostic genetic testing: Slurred speech and shaking, for example, are symptoms of many unrelated conditions, including _____

A

Huntington’s disease

44
Q

Prenatal testing

A

used to detect small-scale
mutations or chromosomal alterations in a fetus

45
Q

________ and _________are two genetic conditions that are often screened
for using prenatal genetic testing

A

Spina bifida & Down Syndrome

46
Q

Spina bifida

A

is a birth defect
that involves the incomplete development of the spinal cord and
may result in a protrusion from an opening in the spine.

47
Q

Amniocentesis

A
  • prenatal screening procedure performed
    between weeks 14 and 20 of pregnancy
  • inserting a needle into the mother’s uterus and extracts some of the amniotic fluid that surrounds the fetus.
  • The fetal cells are tested for genetic disorders, through karyotyping or biochemical tests
48
Q

Chorionic villus sampling (CVS)

A
  • Prenatal testing
  • Chorionic villi are fingerlike projections that
    protrude from the tissue surrounding the fetus.
  • extracts a small sample of chorionic villi by inserting a narrow, flexible tube into
    the mother’s uterus.
  • conducted as early as the
    8th week of pregnancy,
49
Q

Newborn screening

A
  • detect some genetic disorders at birth through
    simple tests performed in hospitals
  • Often by drawing blood from newborn feet
50
Q

phenylketonuria (PKU)

A

newborns are
screened for phenylketonuria (PKU).
- inherited disorder that
results in the inability of children to break down the naturally occurring
amino acid phenylalanine. - lead to severe developmental delays.
- the detection of this condition in a newborn can prevent retardation.
- A diet low in phenylalanine is usually
sufficient to prevent the onset of developmental delays

51
Q

Turner Syndrome

A
  • Missing copy of chromosome X (nondisjunction-X_)
  • 1 in 2500 births
  • 96-98% do not survive to birth
  • Sterile female
  • No menstruation or breast development
    Range of ailments (heart, thyroid)
  • Broad shoulders and neck
52
Q

Wolf–Hirschhorn syndrome

A
  • Deletion in chromosome 4
  • 1 in 95,900 births
  • Distinct facial characteristics
  • Growth restrictions,
  • Intellectual delays
53
Q

Charcot-Marie-Tooth Disease

A
  • Duplication on chromosome 17
  • 1 in 2500 births
  • Weakness of the foot and lower leg muscle
  • Foot deformities
54
Q

4 reasons why we undergo mitosis

A
  • Embryonic development
  • tissue growth
  • tissue repair
  • replacing old/dead cells
55
Q

Prader-Willi syndrome

A
  • deletion in chromosome 15
  • developmental delays
  • learning & behaviour disabilities
  • obesity
  • sex glands produce no hormone
  • short stature