Nucleic acid Flashcards

(121 cards)

1
Q

He discovered a substance contained within nuclei, called “nuclein”

A

FRIEDRICH MIESCHER

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2
Q

Were identified as nucleic acids later on

A

Nuclein

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3
Q

He discovered that DNA was a polymer of nucleotides

A

Phoebus Levene (1929)

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4
Q

He stated that DNA is the main constituent of genes

A

OSWALD AVERY (1946)

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5
Q

She discovered the first pictures of DNA

A

ROSALIND FRANKLIN (1950)

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6
Q

Bacteria prove genes are DNA. TRUE OR FALSE

A

TRUE

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7
Q

They revealed the DNA structure

A

WATSON AND CRICK (1953)

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8
Q

X-ray structure confirmed double helix

A

ALEXANDER RICH (1973)

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9
Q

a branch of biology that deals with the heredity and variation of organisms

A

GENETICS

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10
Q

father of genetics

A

GREGOR MENDEL

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11
Q

a portion of DNA whose sequence of nucleotides encodes a protein that determines the characteristics of an organism

A

GENE

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12
Q

Lie in sequences along the chromosomes
and are made up of nucleic acids.

A

GENE

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13
Q

Complete set of the
genes in a cell of an
organism

A

HUMAN GENOME

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14
Q

The human genome is
made of ____________ billion
bases of DNA

A

3.2

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15
Q

Made up of two
chromatids and each chromatid contains a
sequence of DNA

A

CHROMOSOME

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16
Q

Any of the alternative
forms that one gene
can take – it could
either be dominant or
recessive

A

ALELLES (TRAITS)

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17
Q

Inherited from each
parent

A

ALELLES (TRAITS)

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18
Q

An individual‘s complete
genetic makeup

A

GENOTYPE

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19
Q

FOR EACH GENE, THE TWO ALLELES OF A
CELL MAY BE IDENTICAL OR DIFFERENT.

TRUE OR FALSE?

A

TRUE

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20
Q

The characteristics that genes
expressed

A

PHENOTYPE

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21
Q

Trait that is expressed when
present

Capital letter

A

DOMINANT ALELLE

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22
Q

Trait that is masked if
dominant allele is also present.

Lowercase

A

RECESSIVE ALLELE

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23
Q

Identical alleles for a single
gene

A

HOMOZYGOUS

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24
Q

Two different alleles

A

HETERPZYGOUS

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25
are polymers that contain hydrogen, oxygen, and phosphorus
NUCLEIC ACID
26
monomers of nucleic acids
NUCLEOTIDES
27
Nucleic acids are polymers that contain ________, _________, _________, and _________.
carbon, hydrogen, oxygen, and phosphorus
28
double-stranded sugar phosphate
DEOXYRIBONUCLEIC ACID
29
usually single-stranded sugar phosphate
RIBONUCLEIC ACID
30
This forms the genetic traits of an organism
DEOXYRIBONUCLEIC ACID (DNA)
31
Relays instructions from the genes to guide each cell in making proteins and amino acids.
RIBONUCLEIC ACID (RNA)
32
enumerate the nitrogenous bases of DNA
ADENINE (A) THYMINE (T) CYTOSINE (C) GUANINE (G)
33
enumerate the nitrogenous bases of DNA
ADENINE (A), THYMINE (T), CYTOSINE (C), AND GUANINE (G).
34
enumerate the nitrogenous bases of RNA
ADENINE (A) CYTOSINE (C) GUANINE (G) URACIL (U)
35
enumerate the three components of nucleotides
NITROGENOUS BASE PENTOSE SUGAR PHOSPHATE GROUP
36
pentoses sugar of DNA
DEOXYRIBOSE
37
pentoses sugar of RNA
RIBOSE
38
This alternates with the pentose sugar to form the backbone of the DNA strand.
PHOSPHATE GROUP
39
3 parts of a nucleotide (DNA)
deoxyribose, a phosphate group, a nitrogen base
40
3 parts of a nucleotide (RNA)
Ribose, a Phosphate group, a Nitrogen Base
41
4 nitrogen bases (DNA)
Adenine, Guanine, Thymine, Cytosine
42
4 nitrogen bases (RNA)
Adenine, Guanine, Cytosine, Uracil
43
number of strands of nucleotides (DNA)
2
44
number of strands of nucleotides (RNA)
1
45
A molecule that encodes all the information needed to sustain life.
DEOXYRIBONUCLEIC (DNA)
46
A human DNA includes about ___________genes (Hoefnagels, 2016)
25,000 genes
47
It is responsible for preservation, copying, and transmission of information within our cells and from generation to generation.
DEOXYRIBONUCLEIC (DNA)
48
composition of dna
1. deoxyribose sugar 2. bases- adenine, thymine, cytosine, guanine 3. phosphate group (double-stranded arrangement)
49
DNA molecules complexed with other proteins; especially basic proteins called “__________” to form a substance known as “__________”.
histone, chromatin
50
What are the three types of RNA
mRNA tRNA rRNA
51
Give descriptions/characteristics of mRNA
- long straight chain of nucleotides - made in the nucleus - copies DNA and leaves through nuclear pores - contains nitrogen bases A, C, U (not T)
52
Give descriptions/characteristics of tRNA
- transfers amino acids to the ribosomes where proteins are synthesized. - Clover-leaf shape - Single stranded molecule with attachment site at one end for an amino acid. - Opposite end has three nucleotide bases called the anticodon.
53
Give descriptions/characteristics of rRNA
- Ribosomal RNA (rRNA), along with protein, makes up the ribosomes. - Ribosomal RNA (rRNA)
54
A _______ designates amino acid
codon
55
The first stage of protein synthesis where a cell builds an mRNA copy of DNA
TRANSCRIPTION
56
enumerate processes in transcription
1. initiation 2. elongation 3. termination
57
a process of transcription wherein Enzymes unzip the DNA double helix that corresponds to the gene and exposed the template strand.
INITIATION
58
a process of transcription wherein RNA Polymerase adds nucleotides to the mRNA strand.
ELONGATION
59
a process of transcription wherein it Occurs at the terminator sequence in the gene where RNA polymerase and mRNA detached from the DNA.
TERMINATION
60
a process in transcription wherein Non – functional segments of DNA are snipped out of the chain
INTRONS
61
a process in transcription wherein Segments of the DNA that code for proteins are then re-joined by the enzyme ligase.
EXONS
62
a process in transcription wherein a guanine triphosphate cap is added to the 5’ end of the newly copied mRNA.
EXONS
63
the second stage of protein synthesis RNA being made into protein or change to amino acid language
TRANSLATION
64
Process of decoding the mRNA into a polypeptide chain. (process in protein synthesis)
TRANSLATION
65
3 processes in translation
1. initiation 2. elongation 3. termination and release
66
a process in translation wherein mRNA transcript start codon AUG attaches to the small ribosomal subunit. Small subunit attaches to large ribosomal subunit.
Initiation
67
a process in translation wherein As ribosome moves, two RNA with their amino acids move into site A and P of the ribosome peptide bonds join the amino acids.
ELONGATION
68
a process in translation wherein it Occurs when a release factor protein binds to the stop codon. All components of the translation machines are released together with the complete polypeptide.
Termination and Release
69
The end products of protein synthesis is a _________________.
primary structure of a protein
70
A sequence of amino acid bonded together by _______ (polypeptide).
peptide
71
▪ Factory of protein synthesis ▪ Composed of ribosomal RNA and ribosomal proteins known as Ribonucleoprotein or RNP
RIBOSOMES
72
The production or synthesis of polypeptide chains (proteins)
PROTEIN SYNTHESIS
73
two phases of protein synthesis
transcription and translation
74
Occurs when DNA changes, altering the genetic instructions
GENETIC MUTATIONS
75
May result to genetic or a change in characteristics
GENETIC MUTATIONS
76
effects of DNA mutations
Be neutral and have no effect Improve a protein and be beneficial May cause a disease
77
Diseases caused by abnormalities in the sequencing of DNA of an individual.
GENETIC DISORDERS
78
There are more than __________ identified medical disorders caused by a defective gene.
4000
79
Mutations of a specific gene
SINGLE – GENE DISORDER
80
Conditions that are NOT caused by a mutation on a specific gene, but by the abnormality in a person’s chromosomes
CHROMOSOMAL DISORDERS
81
The condition can be passed ONLY if both parents have a copy of the faulty gene – both are “carriers”
AUTOSOMAL RECESSIVE INHERITANCE
82
a hereditary disorder characterized by lung congestion and infection and malabsorption of nutrients by the pancreas
cystic fibrosis
83
give atleast 4 common symptoms of cystic fibrosis
- salty - tasting skin - chronic respiratory problems - lung infections - poor growth/weight loss - meconium ileus - bulky/greasy stool
84
more rigid, viscous and easily aggregated, can block the smaller blood vessels
sickle red blood cell
85
enumerate atleast 5 symptoms of sickle cell anemia
- anemia/pale looking - backpain - frequent infections/illness - joint pain - swelling - low immunity - breathlessness - yellow colored eye - chest pain - fatigue - abdominal pain - enlargement of spleen
86
a disorder wherein there are presence of malformed red blood cells
THALASSEMIA
87
enumerate atleast 3 symptoms of thalassemia
- weakness - yellowish skin - dark urine - abdominal swelling - slow growth - fatigue
88
identify the disease - hexa gene mutation - beta-hexosaminides A deficiency - accumulation of GM2 ganglioside in neurons - membranous bodies inside neurons, neuronal degradation, demyelination - cherry red spot in the macula of the eye and narrowing of the blood vessels - macrocephaly, hypotony, mental and motor delay, convulsions
Tay-Sachs disease
89
enumerate symptoms of infantile Tay-Sachs
- deafness - blindness - decreased muscle tone - increased startle response - paralysis or loss of muscle function - seizures - delayed mental and social development
90
enumerate symptoms of infantile Tay-Sachs
- deafness - blindness - decreased muscle tone - increased startle response - paralysis or loss of muscle function - seizures - delayed mental and social function
91
Only one parent is affected of the mutated gene to be passed on the child.
AUTOSOMAL DOMINANT INHERITANCE
92
Some brain cells are damaged over time. The most common form of the disorder appears at 30s or 40s
HUNTINGTON'S DISEASE
93
enumerate atleast 2 MUST-KNOW infos about HUNTINGTON'S disease
- degenerates nerve cells in brain areas responsible for movement and thinking - rare condition that is inherited - has 50% risk of being passed down to every offspring of someone with the disease - is expected in half of the siblings of a parent with the disease - onset is between the ages of 30 and 50 - can also come in juvenile form
94
enumerate some of huntington's early symptoms
- moodiness - fidgeting - cognitive issues - personality shifts - depression - trouble focusing - muscle twitching
95
enumerate atleast 3 of marfan syndrome features
- eye problems - abnormal chest, heart and lung problems - short torso - tall, thin body frame - long arms, legs and fingers - mitral valve prolapse (medical necrosis of aorta) - aortic aneurism - retinal detachment - fibrillin defect - arachnodactyly - negative nitroprusside test - subluxated lense
96
enumerate atleast 5 symptoms in infants for hirschsprung's disease
- constipation - meteorism - palpable faecaloma - sometimes putrescent diarrhea - ulceration, bleeding - hypoproteinemia, anemia - electrolyte disorders
97
Conditions that are cause by mutation on the X chromosome (Sex chromosome)
X-LINKED INHERITANCE
98
in x-linked inheritance, Females who inherit the mutation are “_________”
carriers
99
royal disease
hemophilia
100
Identify the disorder - onset:age 3-6 years - progressive weakness - pseudohypertrophy of calf muscles - spinal deformity - cardiopulmonary involvement - mild-moderate MR
DUCHENE MUSCULAR DYSTROPHY
101
a genetic disorder that affect red blood cell and may contribute to anemia. the severe form of the deficiency is called favism, which causes more symptoms and poses more risks than other types of this deficiency
G6PD deficiency
102
enumerate atleast 4 signs and symptoms of G6PD deficiency
- yellow of the white eyes - confusion and difficulty concentrating - higher risk for enlarged spleen - sudden rise in blood temp - rapid heart rate - dark urine color - fatigue and weakness
103
enumerate atleast 5 early signs of autism
- hysterics - proffered to play alone - sensitive to noises - tiptoeing - avoiding eye contact - ignoring danger - delayed speech development - aversion to touching - issues with communication. child doesn't respond to his/her name
104
TRUE OR FALSE there are fewer X-linked genetic disorders than Y- linked
FALSE fewer Y-linked than X-linked genetic disorders
105
TRUE OR FALSE Y chromosome is smaller and has many less genes than the X chromosome
TRUE
106
TRUE OR FALSE Y-linked inheritance shows a pattern of transmission of the mutant phenotype from father to son, and it is never observed in females
TRUE
107
give an example of a Y-linked phenotypic trait
hairy ears
108
Conditions that are NOT caused by a mutation on a specific gene, but by the abnormality in a person’s chromosomes
CHROMOSOMAL DISORDERS
109
Extra copy chromosome 21 “Trisomy 21”
DOWN SYNDROME
110
enumerate atleast 4 features of down syndrome
- upward slanting eyes - flat nose and face - opened mouth with protruding tongue - short neck - excess nuchal skin - small ears
111
Extra copy of chromosome 18
EDWARD’S SYNDROME
112
identify the disorder - small mouth, small jaw, short neck - shield chest, or short and prominent sternum, and wide set nipples - occiput, or back part of the skull, is prominent - dysplastic, or malformed ears - clenched hands with overlapping fingers - flexed big toe; prominent heels
EDWARD'S SYNDROME
113
A disorder that only affects females Caused by a missing or abnormal X chromosome
TURNER SYNDROME
114
enumerate atleast 5 features of turner syndrome
- short stature - low hairline - shield-shaped thorax - widely spaced nipples - shortened metacarpal IV - small finger nails - brown spots - fold of skin - constriction of aorta - poor breast development - elbow deformity - rudimentary ovaries - no menstruation
115
AKA 47, XXY A disorder that only affects males and is caused by X chromosome
KLINEFELTER’S SYNDROME
116
enumerate atleast 5 features of klinefelter's syndrome
- frontal baldness absent - tendency to grow fewer chest hairs - breast development - female-type pubic hair pattern - small testicular size - poor beard growth - narrow shoulders - wide hips - long legs
117
Not caused by abnormalities in a single gene or chromosomes, but by the combination of genetic changes that produces the disease
MULTIFACTORIAL INHERITANCE
118
Enumerate autosomal recessive inheritance disorders
- Cystic Fibrosis - Sickle Cell Anemia - Thalassemia - Tay-Sach's Disease
119
Enumerate Autosomal Dominant Inheritance Disorders
- Huntington's Disease - Tuberos Sclerosis - Marfan's Syndrome - Hirschprung Disease
120
Enumerate X-linked Inheritance Disorders
- Hemophilia - Duchene Muscular Dystrophy - Color Blindness - G6PD Deficiency - Cleft Lip and Palate - Ankyloglossia - Autism
121
Enumerate Y-linked Inheritance Disorders
- Down Syndrome - Edward's Syndrome - Turner Syndrome - KLINEFELTER’S SYNDROME