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1
Q

When examining inherited differences in drug responses, what two factors should be considered?

A

drug efficacy and adverse drug reactions

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2
Q

Three main types of RNA are involved in protein synthesis.

A

They aremessenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). rRNA forms ribosomes, which are essential in protein synthesis.

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3
Q

Nondisjunction

A

Is the failure of the chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes.

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4
Q

What is cohesin?

A

A protein glue that holds the daughter chromosomes together.

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5
Q

Symptoms of cystic fibrosis include:

A

recurring chest infections
wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
difficulty putting on weight and growing
yellowing of the skin and the whites of the eyes (jaundice)
diarrhoea, constipation, or large, smelly poo
a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed

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6
Q

Gene regulation is complex…

A

genes can be regulated at many points
1.Transcription
2.post-transcription
3. post-translational

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7
Q

Measuring gene expression levels

A

-quantitive PCR - good for 10-100s genes
-microarray - good for thousands of genes
-RNAseq - good for assaying the entire genome

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8
Q

What are daughter chromosomes?

A

The chromosomes that result from replication.

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9
Q

What 2 things occur in Prophase of mitosis

A

1) The nuclear membrane breaks apart.
2) Proteins package the paired chromosomes into shorter and thicker rods (CONDENSATION).

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10
Q

What is condensation, in terms of protein involvement?

A

Proteins package chromosomes into shorter thicker rods.

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11
Q

Symptoms of cystic fibrosis include:

A

-recurring chest infections
-wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
-difficulty putting on weight and growing
-yellowing of the skin and the whites of the eyes (jaundice)
-diarrhoea, constipation, or large, smelly poo
-a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed

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12
Q

A BCR-ABL1 genetic test

A

uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is involved in certain types of blood cancer. It’s found in: Most people who have chronic myeloid leukemia (CML), which is also called chronic granulocytic leukemia or chronic myeloid leukemia.

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13
Q

Huntingtons’s Diease

A

-dominant
-disruption of brain chemistry which leads to cellular death
-muscular twitching
-emotional disturbances
-chromosome #4 marker

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14
Q

Porphyria

A

-dominant
-can not metabolize RBC breakdown
-causes neurological problems
-sun exposure can cause skin to blister

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15
Q

Describe the molecular basis for Sickle Cell Anaemia

A

-SCA is caused by a single DNA mutation, an A to a T in the beta-globin gene
-Glutamate changes to valine in the amino acid chain

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16
Q

Identify the symptoms of Sickle Cell Anaemia

A

Anaemia
Fever
Severe pain
Sudden death

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17
Q

Describe the treatment for Sickle Cell Anaemia

A

Treatment usually aimed to limit symptoms and complications

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18
Q

Both beta globin proteins need to be mutated to cause Sickle cell anaemia.

What does this tell us about the disease?

A

Autosomal recessive inheritance

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19
Q

What is sickle cell trait?

A

-Sickle cell trait is a milder form of sickle cell anaemia wherein individuals are heterozygous for the mutation.
-Increases resistance to malaria.

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20
Q

Discuss the geographical variation with sickle cell anaemia

A

-SCA is very rare in non-African populations and common in populations with African ancestry
-Similarity in distribution across populations with malaria endemicity

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21
Q

What is epigenetics?

A

Epigeneticsis the study of heritable changes in gene expression that does not involve changes to the underlying DNA sequence

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22
Q

What is Huntington’s disease?

A

Huntington’s Disease in an inherited neurodegenerative disease, involving the death of brain cells

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23
Q

Identify 4 symptoms of Huntington’s Disease

A

-Seizures
-Abnormal gait
-Personality change
-Dementia

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24
Q

Describe the molecular basis for Huntington’s disease

A

Mutation is a short tandem repeat (STR)

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25
Q

What pattern of inheritance does Huntington’s disease follow?

A

Autosomal dominant inheritance

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26
Q

How can Huntington’s Disease be detected?

A

DNA test detection: use a polymerase chain reaction (PCR) to amplify the CAG repeat

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27
Q

In terms of Huntington’s disease, what is meant by the term anticipation?

A

-Age of onset commonly 40-50 (varies)
-Anticipation is when the age of onset becomes earlier and symptoms become more severe from generation to generation

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28
Q

How can age of onset be determined in Huntington’s disease?

A

-Age of onset is affected by CAG repeat length
-However, there is still a lot of variation as the influence of the age of onset is multifactorial

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29
Q

Identify two approaches in which Huntington’s Disease can be treated

A

We all have the HTT gene and it is turned on in all cells:

Appproach 1: use a suppressor screen – delete every gene in turn and identify genes that, when deleted, prevent HD.
Approach 2: chemical inhibition of kynurenine biochemical pathway

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30
Q

What are developmental disorders?

A

Developmental disorders are a group of psychiatric conditions originating in childhood that involve serious mental and physical impairment in different areas

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31
Q

What is a pedigree chart?

A

A pedigree is a diagram showing genetic information from a family, using standardized symbols.

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32
Q

State 2 purposes of a pedigree chart

A

-Determines whether the pattern of inheritance for a given trait
-Discovers whether the gene in question is located on an X or Y chromosome or an autosome

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33
Q

Why is it important to establish how a trait is inherited?

State 3 reasons

A

If the pattern of inheritance can be established, it can be used to predict genetic risk in several situations, including:

Pregnancy outcomes
Adult-onset disorders
Recurrence risks in future off spring

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34
Q

What is a codon?

A

Codons are triplets of nucleotides in mRNA that encode the information for a specific amino acid in a protein

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35
Q

What is a stop codon?

A

Stop codons are codons in mRNA that signal the end of translation (end of protein synthesis)

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36
Q

Pedigrees use a standardised set of symbols.

How are males and females represented?

A

Squares represent males
Circles represent females

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37
Q

Pedigrees use a standardised set of symbols.

How are affected individuals represented?

A

Individuals with the phenotype in question is represented by a filled-in symbol

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38
Q

Pedigrees use a standardised set of symbols.

How are heterozygotes represented?

A

Heterozygotes, when identifiable, are indicated by a shaded dot or a half-filled symbol

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39
Q

Pedigrees use a standardised set of symbols.

How are individuals represented when their sex is unknown?

A

If the sex of a person is unknown, a diamond is used

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40
Q

Pedigrees use a standardised set of symbols.

How are romantic relationships represented?

A

Parents are connected by a horizontal line
Closely related parents (such as first cousins) are connected by a double line
Divorced parents are connected by a horizontal line with slanted lines

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41
Q

Identify 3 unique features of autosomal recessive inheritance

A

All the children of two affected (homozygous) individuals are affected
The risk of an affected child from two heterozygote parents is 25%
For rare traits, affected individuals have unaffected parents

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42
Q

Identify a non-Mendelian pattern of inheritance

A

Mitochondrial inheritance - traits controlled by single genes coded for by mitochondrial genes

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43
Q

What can be expected with traits on autosomes (non-sex chromosomes)?

A

Expressed in both males and females (affected in roughly equal numbers)
Both the male and the female parent transmit the trait

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44
Q

Identify 6 different diseases with autosomal recessive inheritance

A

Albinism
Cystic fibrosis
Phenylketonuria
Sickle cell anaemia
Thalassemia
Xeroderma pigmentosum

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45
Q

Identify 3 stop codons

A

UAA
UAG
UGA

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46
Q

What is a start codon (AUG)?

A

A start codon is always the first codon in a gene, present in mRNA to signal the location for translation to begin.

AUG = methionine

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47
Q

What is a start codon (AUG)?

A

A start codon is always the first codon in a gene, present in mRNA to signal the location for translation to begin.

AUG = methionine

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48
Q

How is genetic code written?

A

Genetic code is written as it appears in an RNA copy of the DNA template

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49
Q

What is transcription?

A

Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.

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50
Q

Identify the 3 stages in transcription

A

-Initiation
-Elongation
-Termination

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51
Q

Describe initiation in transcription

A

Initiation: RNA polymerase binds to a specific nucleotide sequence (called a promoter) that marks the beginning of a gene.

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52
Q

Describe elongation in transcription

A

Elongation: DNA strands unwind, and RNA polymerase reads the nucleotide sequence of the template strand.

As it moves along, it inserts and pre-mRNA molecule.

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53
Q

Describe termination in transcription

A

Termination: RNA polymerase reaches the end of the gene, marked by nucleotides called a 3’ termination sequence
-RNA-polymerase stops adding nucleotides to pre-mRNA which falls off the DNA template strand and is released
-DNA strands re-form a double helix

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54
Q

What is an intron?

A

An intron is a sequence in the pre-mRNA molecule that is not transcribed

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55
Q

What is an exon?

A

An exon is a sequence in a pre-mRNA molecule that is transcribed

56
Q

Outline the process of RNA splicing

A

-RNA splicing is when pre-mRNAs are processed in the nucleus to remove introns which occur between exons
-As introns are removed, the exons are spliced together to form mature mRNA molecules

57
Q

How are mRNA molecules processed?

A

Ends of the mRNA are modified:

A nucleotide cap is attached to the 5’ end of eukaryotic mRNA
A poly-A tail is added at the 3´ end (aids in export of the mRNA from nucleus)

58
Q

How is the mature mRNA molecule released?

A

The final product, mature mRNA is exported from the nucleus into the cytoplasm, where translation takes place

59
Q

How is the mature mRNA molecule released?

A

The final product, mature mRNA is exported from the nucleus into the cytoplasm, where translation takes place

60
Q

How is the mature mRNA molecule released?

A

The final product, mature mRNA is exported from the nucleus into the cytoplasm, where translation takes place

61
Q

What is translation?

A

Translation is the process in which ribosomes in the cytoplasm/rER produce polypeptides from information in mRNA

62
Q

What is a mutation?

A

A mutation is a heritable alteration in a gene or chromosome (a change in the sequence of nucleotides) and also the process that produces the alteration

63
Q

Identify two sources of exogenous mutations

A

Ionising radiation/particles and free radicals
Mutagenic chemicals and anti-cancer agents

64
Q

What is the general effect of exogenous mutagens?

A

Exogenous mutagens lead to defective/error-prone DNA repair in the body

65
Q

Identify 6 processes/substances which lead to the formation of free radicals

A
  1. UV light
  2. Ionising radiation
  3. Smoking
  4. Air pollution
  5. Inflammation
  6. Metabolism
66
Q

What are the two sources of endogenous mutations?

A
  1. DNA replication errors
  2. Transposable elements
67
Q

What are transposable elements?

A

A transposable element is a DNA sequence that can change its position within a genome, sometimes creating or reversing mutations and altering the cell’s genetic identity and genome size

68
Q

What are the four different types of single nucleotide changes?

A
  1. Mutations that change gene products
  2. Mutations that change the amount of gene product
  3. Mutations that change the polypeptide length
  4. Mutations that have no effect
69
Q

What are missense mutations?

A

Missense mutations are mutations which change the gene product due to a change in amino acid

70
Q

Identify some types of mutations which change the polypeptide length

A
  • Frameshift mutations
  • Mutations of stop codon
  • Nonsense mutations
71
Q

Mutations that change the amount of gene product affect transcription and/or translation.

Identify some examples:

A
  • Alter promoter activity
  • Alter translation initiation at AUG
  • Prevent mRNA splicing
  • Reduce mRNA stability
72
Q

What are silent mutations?

A

Silent/neutral mutations are mutations which have no effect

73
Q

What are the different types of substitutions?

A
  • Transition: change to same type of base e.g. purine to purine (A ⇒ G)
  • Transversion: change to different type of base e.g. purine to pyrimidine (A/G ⇒ T/C )
74
Q

What is sickle cell anaemia?

A

Sickle cell anaemia is a haemoglobinopathy which arises due to a single base mutation in the β-chain of haemoglobin (Glu ⇒ Val) causing the blood cells to become rigid and sickle (HbS protein)

75
Q

Multiple Allele Traits

A

Traits controlled by a single gene with more than two alleles are called multiple allele traits. An example is ABO blood type.

76
Q

Multiple Allele Traits

A

Traits controlled by a single gene with more than two alleles are called multiple allele traits. An example is ABO blood type.

77
Q

Pleiotropy

A

(from Greek πλείων pleion, ‘more’, and τρόπος tropos, ‘way’) occurs when one gene influences two or more seemingly unrelated phenotypic traits. Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene.

78
Q

-aemia

A

= suffix denoting a specified bio-chemical condition of the blood

79
Q

A-=

A

prefix denoting without
E.g. Agammaglobulinaemic = blood (haem) lacks gammaglobulin

80
Q

Ab =

A

=away from (Latin)
E.g. -Abduction = movement of limb away from the midline of the body.
-Abembryonic = away from or opposite the embryo

81
Q

Ad =

A

towards, beside (Latin)
Adduction = movement of limb towards the midline of the body.
Adaxial = towards the main axis

82
Q

Comparative genome hybridization (CGH)

A

CGH is a molecular-cytogenetic method for the analysis of copy number changes (gains or losses) in the DNA content of a given individual’s DNA.

83
Q

Exome

A

The approximately 1% of the human genome that comprises all exons and therefore the entire protein-coding region of the genome.

84
Q

Genome-wide association study (GWAS)

A

A test for the association between genetic polymorphisms spread evenly over the entire genome, and a disease. Usually at least 300 000 markers are required to adequately cover the genome.

85
Q

What is cfDNA used for?

A

A cfDNA screening is most often used to show if your unborn baby has an increased risk for one of the following chromosome disorders: Down syndrome (trisomy 21) Edwards syndrome (trisomy 18) Patau syndrome (trisomy 13)

86
Q

Which type of test isolates RNA in order to identify and quantify specific mRNAs?

A

Northern blot

87
Q

Which type of test digests test DNA using gel electrophoresis and hybridization to a probe?

A

Southern blot

88
Q

Chronic myelogenous leukemia

A

(also called CML or chronic granulocytic leukemia) is a slowly progressing blood and bone marrow disease that usually occurs during or after middle age, and rarely occurs in children.

89
Q

Cri du chat syndrome

A

a rare genetic disorder caused by missing pieces on a particular chromosome. The characteristics of a newborn with cri du chat syndrome include a high-pitched cry, a small head and a flattened bridge of the nose.

a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic).

90
Q

Cri du chat syndrome

A

a rare genetic disorder caused by missing pieces on a particular chromosome. The characteristics of a newborn with cri du chat syndrome include a high-pitched cry, a small head and a flattened bridge of the nose.

a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic).

91
Q

FISH. What does it stand for?

A

Fluorescence in Situ Hybridization

92
Q

Quantitative PCR (qPCR)

A

also called real-time PCR or quantitative real-time PCR, is a PCR-based technique that couples amplification of a target DNA sequence with quantification of the concentration of that DNA species in the reaction.

93
Q

Newborn blood spot (heel prick) test

A

The newborn blood spot test involves taking a small sample of your baby’s blood to check it for 9 rare but serious health conditions. When your baby is about 5 days old, a healthcare professional will prick your baby’s heel and collect a few drops of blood on a special card.

94
Q

Lyophilisation

A

a method of drying food or blood plasma or pharmaceuticals or tissue without destroying their physical structure; material is frozen and then warmed in a vacuum so that the ice sublimes. synonyms: freeze-drying

95
Q

What is the difference between nucleoside and nucleotide?

A

Nucleotides consist of a nitrogenous base, a five-carbon sugar, and a phosphate group

While nucleosides consist of a nitrogenous base and a five-carbon sugar, but they do not have a phosphate group.

96
Q

What is dNTP?

A

Deoxynucleotide triphosphate (dNTP) is a monomeric unit of DNA and formed by reducing ribonucleotides with the enzyme ribonucleotide reductase (RNR).

It contains a nitrogen base, bound to deoxyribose sugar, and three phosphate groups attached to its 5’ carbon.

97
Q

Trait

A

Special characteristic of individual

98
Q

Carrier

A

Someone who has gene for a trait, but trait is not expressed

99
Q

Nondisjunction

A

failure of separation of chromosomes during meiosis

100
Q

2 types of cancer

A

malignant and non malignant

101
Q

What are acrocentric chromosomes?

A

Chromosomes that have a long arm and a short arm

102
Q

Where does transcription take place in eukaryotes?

A

Transcription takes place in the nucleus of eukaryotic cells.

103
Q

Define mutation.

A

Mutation is a random change in the sequence of bases in DNA or RNA.

104
Q

Compare and contrast germline and somatic mutations.

A

Germline mutations occur in gametes and may be passed on to offspring.

Every cell in the body of the offspring will then carry the mutation.

Somatic mutations occur in other cells of the body other than gametes.

They are confined to a single cell and its daughter cells, and they cannot be passed on to offspring.

They are likely to have little or no effect on the organism in which they occur.

105
Q

Describe chromosomal alterations, point mutations, and frameshift mutations. Identify the potential effects of each type of mutation.

A

Chromosomal alterations are mutations that cause major changes in the structure of chromosomes.

They are very serious and often result in the death of the organism in which they occur.

If the organism survives, it may be affected in multiple ways.

Point mutations are changes in a single nucleotide.

Their effects depend on how they change the genetic code and may range from no effects to serious effects.

Frameshift mutations change the reading frame of the genetic code. They are likely to have drastic effects on the encoded protein.

106
Q

Compare and contrast missense and nonsense mutations.

A

Missense and nonsense mutations are both point mutations, where a single nucleotide is changed.

The difference is that missense mutations cause an amino acid to be changed, while nonsense mutations cause a premature stop codon to be produced.

107
Q

What is a primer?

A

A. DNA copy of an RNA of interest
B. DNA molecule in which the DNA sequence of interest is cloned
C. Radioactive or fluorescent-labeled DNA or RNA fragment used for hybridization
D. DNA sequence that stimulates RNA transcription
E. Oligonucleotide designed to catalyze DNA amplification in polymerase chain reactions

108
Q

Why do we use 100% ethanol in DNA extraction?

A

Very simple as DNA is insoluble in alcohols (Ethanol & Isopropanol) we use 100% alcohols for precipitation so we get good amount of DNA.

109
Q

How does STR work?

A

Short tandem repeat (STR) analysis is a method of determining an individual’s DNA profile by counting the number of times a small DNA sequence (short tandem repeat unit) is repeated at a specific chromosomal location.

110
Q

BRCA1/BRCA2

A

-Are the first two genes found to be associated with inherited forms of breast cancer and ovarian cancer.

-People with mutations in either BRCA1 or BRCA2 have a much higher risk for developing breast, ovarian or other types of cancer than those without mutations in the genes.

-Both BRCA1 and BRCA2 normally act as tumor suppressors, meaning they help to regulate cell division.

-Most people have two active copies of these genes. When one of the two copies becomes inactive due to an inherited mutation, a person’s cells are left with only one copy.

-If this remaining copy also becomes inactivated, then uncontrolled cell growth results, which leads to breast, ovarian or other types of cancer.

111
Q

Cell-Free DNA Testing

A

Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.

For example, prenatal cell-free DNA testing is a non-invasive method used during pregnancy that examines the fetal DNA that is naturally present in the maternal bloodstream.

Cell-free DNA testing is also used for the detection and characterization of some cancers and to monitor cancer therapy.

112
Q

Congenital

A

Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result from an action or exposure occurring during pregnancy or at birth, or they may be due to a combination of these factors.

113
Q

What does it mean if you are JAK2 positive?

A

A positive JAK2 V617F mutation test means that the person tested is likely to have a myeloproliferative neoplasm (MPN). MPN is a group of rare conditions that affect the bone marrow and result in excessive production of red blood cells, white blood cells, or platelets.

114
Q

Hemochromatosis

A

is a disorder in which extra iron builds up in the body to harmful levels. Without treatment, hemochromatosis can cause iron overload, a buildup of iron that can damage many parts of the body, including your liver, heart, pancreas, endocrine glands, and joints.

115
Q

Autosomal

A

means that the gene in question is located on one of the numbered, or non-sex, chromosomes.

116
Q

Transfer RNA (tRNA)

A

is a small RNA molecule that plays a key role in protein synthesis.

Transfer RNA serves as a link (or adaptor) between the messenger RNA (mRNA) molecule and the growing chain of amino acids that make up a protein.

Each time an amino acid is added to the chain, a specific tRNA pairs with its complementary sequence on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the protein being synthesized.

117
Q

Transgenic

A

Transgenic refers to an organism or cell whose genome has been altered by the introduction of one or more foreign DNA sequences from another species by artificial means.

Transgenic organisms are generated in the laboratory for research purposes.

118
Q

Transgenic

A

Transgenic refers to an organism or cell whose genome has been altered by the introduction of one or more foreign DNA sequences from another species by artificial means.

Transgenic organisms are generated in the laboratory for research purposes.

119
Q

Copy DNA (cDNA)

A

-cDNA (short for copy DNA; also called complementary DNA) is synthetic DNA that has been transcribed from a specific mRNA through a reaction using the enzyme reverse transcriptase.

-While DNA is composed of both coding and non-coding sequences, cDNA contains only coding sequences.

-Scientists often synthesize and use cDNA as a tool in gene cloning and other research experiments.

120
Q

Single Nucleotide Polymorphism (SNP)

A

A single nucleotide polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA.

Scientists study if and how SNPs in a genome influence health, disease, drug response and other traits.

121
Q

Polymorphism

A

Polymorphism, as related to genomics, refers to the presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations.

The most common type of polymorphism involves variation at a single nucleotide (also called a single-nucleotide polymorphism, or SNP).

Other polymorphisms can be much larger, involving longer stretches of DNA.

122
Q

Polygenic Trait

A

A polygenic trait is a characteristic, such as height or skin color, that is influenced by two or more genes.

Because multiple genes are involved, polygenic traits do not follow the patterns of Mendelian inheritance.

Many polygenic traits are also influenced by the environment and are called multifactorial.

123
Q

Proband

A

A proband is an individual who is affected by a genetic condition or who is concerned they are at risk.

Usually, the proband is the first person in a family who brings the concern of a genetic disorder to the attention of healthcare professionals.

124
Q

Proband

A

A proband is an individual who is affected by a genetic condition or who is concerned they are at risk.

Usually, the proband is the first person in a family who brings the concern of a genetic disorder to the attention of healthcare professionals.

125
Q

Pseudogene

A

A pseudogene is a segment of DNA that structurally resembles a gene but is not capable of coding for a protein.

Pseudogenes are most often derived from genes that have lost their protein-coding ability due to accumulated mutations that have occurred over the course of evolution.

126
Q

Pharmacogenomics

A

Pharmacogenomics (also called pharmacogenetics) is a component of genomic medicine that involves using a patient’s genomic information to tailor the selection of drugs used in their medical management.

In this way, pharmacogenomics aims to provide a more individualized (or precise) approach to the use of available medication in treating patients.

127
Q

Oncogene

A

An oncogene is a mutated gene that has the **potential to cause cancer*.

Before an oncogene becomes mutated, it is called a proto-oncogene, and it plays a role in regulating normal cell division.

Cancer can arise when a proto-oncogene is mutated, changing it into an oncogene and causing the cell to divide and multiply uncontrollably.

Some oncogenes work like an accelerator pedal in a car, pushing a cell to divide again and again.

Others work like a faulty brake in a car parked on a hill, also causing the cell to divide unchecked.

128
Q

What is a triplet repeat mutation?

A

The mutation, referred to as “trinucleotide repeat (TNR) expansion,” occurs when the number of triplets present in a mutated gene is greater than the number found in a normal gene

129
Q

What are the repeat expansion disorders?

A

-fragile X syndrome
-myotonic dystrophy type 1 and type 2
-spinal and bulbar muscular atrophy
-Friedreich ataxia
-common spinocerebellar ataxias
-Huntington disease
-c9orf72-related fronto-temporal dementia and/or amyotrophic lateral sclerosis.

130
Q

Translocation

A

A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome. Sometimes pieces from two different chromosomes will trade places with each other.

131
Q

Ligation

A

refers to joining two pieces of DNA or RNA molecules together covalently (sharing electrons). This is a crucial technique in genetic engineering and research.

132
Q

Polymorphic microsatellites

A
  • are stretches of DNA within a genome that consist of short sequences (usually 1-6 base pairs) repeated in tandem numerous times.

-These repetitive regions are found scattered throughout the genome and are often located in non-coding regions.

133
Q

Essential amino acids are the building blocks of protein that our bodies cannot produce on their own. We must get them from our diet. There are nine essential amino acids:

A

-Histidine
-Isoleucine
-Leucine
-Lysine
-Methionine
-Phenylalanine
-Threonine
-Tryptophan
-Valine

134
Q
A
135
Q

Proband

A

is the first person in a family to be identified as having a possibly genetic disorder and who may receive genetic counseling or testing .

It is a particular subject (human or other animal) being studied or reported on

136
Q

Nuclease-free water

A

is water that has been deionized, filtered, autoclaved, and tested for contaminants, such as endonucleases, exonucleases, and RNases. This water is rigorously tested to be certified nuclease-free, which includes DNases and RNases.

137
Q

Nuclease-free water

A

is water that has been deionized, filtered, autoclaved, and tested for contaminants, such as endonucleases, exonucleases, and RNases. This water is rigorously tested to be certified nuclease-free, which includes DNases and RNases.

My Genetics (46 decks)

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