Module 6 - Genetics Flashcards

Question

Which kind of DNA can repair itself and which cannot?

Answer 1

DNA - can mtDNA cannot repair itself

Answer 2

tissues with high utilization of ATP (ex: nerve, kidney, muscle, liver)

Answer 3

visible only ion dividing cells they are tightly packaged DNA

Answer 4

before division

Answer 5

Connects the sides of chromosomes and are found in the pinched region of the chromosome made of DNA and proteins it connects the chromosome

Answer 6

DNA molecules and structural proteins combined Seen in non-dividing cells It is unwound DNA and proteins together - DNA does its work in this less compacted form

Answer 7

Proteins that the double helix wraps around (histones = proteins) when DNA replicates for organization

Answer 8

Chromosome

Answer 9

chromosomes (it is through chromosomes that our genetic information is distributed)

Answer 10

chromosomes

Answer 11

1 continuous linear DNA helix

Answer 12

A complete set of one of each chromosomes (23 total)

Answer 13

A cell containing 2 sets of the 23 chromosomes in pairs (46 total)

Answer 14

22 chromosome pairs that do not determine gender

Answer 15

X and Y chromosomes

Answer 16

Ova and Sperm (each only have 1 chromosome from each parent making them haploid (23) cells)

Answer 17

1. they hold information 2. It can copy itself 3. it changes

Answer 18

one X chromosome

Answer 19

an organized arrangement of all the chromosomes within one cell during the M phase of mitosis Paired and then arranged by number according to size and position of the centromere

Answer 20

Semiconservative model

Answer 21

experiment that verified the semiconservative model of DNA replication

Answer 22

Describes the method by which DNA is replicated in all known cells It states that replication has DNA replicate before cell division to make two copies each containing one of the original DNA strands and an entirely new copy strand

Answer 23

long single stranded molecule involved in the actual synthesis of cellular enzymes and proteins

Answer 24

enzyme in the nucleus that synthesizes RNA

Answer 25

single nucleotide chain and one complimentary copy of a DNA strand

Answer 26

1. RNA is single stranded but DNA is double helix 2. Thymine is replaced with Uracil in RNA 3. RNA has a RIBOSE instead of Deoxyribose sugar

Answer 27

as an enzyme and speed up chemical reactions

Answer 28

complementary copy

Answer 29

mRNA tRNA rRNA

Answer 30

Messenger RNA - "The Template" Contains the transcribed instructions for protein synthesis obtained from the DNA molecule and carrier them to the cytoplasm while leaving the nucleolus Holds the information on the order of amino acids in a protein via Codon sequences of nucleotides

Answer 31

chain of 3 mRNA nucleotides that specify insertion of one of the twenty different amino acids A sequence of 3 bases forming a fundamental triplet code for transmitting information for protein synthesis

Answer 32

Transfer RNA - "The Transporter" Delivers the appropriate amino acids to the ribosome, where they are incorporated into the protein being synthesized

Answer 33

There are 20 different kinds, each corresponding to one of 20 amino acids, in order to bring the AA to the ribosomes Also it is a cloverleaf shape and the smallest RNA

Answer 34

Ribosomal RNA - "The Synthesizer" Provides the machinery needed for protein synthesis It provides the structural support for the growing protein

Answer 35

in the nucleolus (unlike other RNA types) and transported to the endoplasmic reticulum

Answer 36

functions as a blueprint; it is a code for a single protein (or polypeptide chain) it is single stranded

Answer 37

the translator, capable of reading the mRNA language and binding corresponding amino acid to a growing peptide chain cloverleaf shape

Answer 38

the factory, an "enzyme" of sorts it is a complex with proteins

Answer 39

the process of making RNA from DNA RNA copy of a DNA sequence

Answer 40

the process of making proteins from RNA (genetic code to protein code)

Answer 41

processing

Answer 42

the selective activation of a gene which results in the production of the appropriate protein

Answer 43

mature mRNA tRNA molecules carrying AA rRNA ATP and GTP Verious protein factors

Answer 44

cell nucleolus

Answer 45

Weak H bonds of DNA are broken so free RNA nucleotides can pair with exposed DNA counterparts (unzipping) on the meaningful DNA strand --> RNA polymerase recognized the beginning or start sequence of a gene --> RNA polymerase then attaches to the double stranded DNA and copies the meaningful strand into a single strand of RNA --> once at the stop signal, the enzyme leaves the gene and releases the RNA strand

Answer 46

universal language used by most living cells Four (nitrogenous) bases make up the alphabet for this code and can be arranged in 64 possible combinations of 3s called codons

Answer 47

one specific protein

Answer 48

stop codons

Answer 49

only 20, so the code is redundant or degenerate

Answer 50

codons that specify the same amino acids they usually have the first two bases the same, but the third base differs

Answer 51

signals the end of a protein molecule

Answer 52

building blocks of life (and proteins)

Answer 53

the many stages of cell division, cell renewal, and tissue growth

Answer 54

process of matching amino acieds to corresponding sets of 3 bases (codons) and linking them into a protein

Answer 55

RNA leaves the nucleus and attaches to the (small rRNA subunit) ribosome to begin (it contains the instructions for a particular protein) --> AAs are brought by tRNA and linked to make polypeptide chains --> Ribosomes read the 3 bases together to do the corresponding bases

Answer 56

AGC (complementary/pair to it)

Answer 57

DNA (nucleus) --> mRNA (Nucleus) --> tRNA (cytoplasm) --> rRNA (ribosome in cytoplasm) --> protein synthesis

Answer 58

an amino acid sequence

Answer 59

The functional diversity of cells Performs most biological functions Has many regulatory processes take place Can cause many disease processes to occur Where most drug targets are found (here and at translation)

Answer 60

the AA sequence/chain

Answer 61

Dystrophin - structural protein - it functions to maintain muscle integrity, and a mutation in the gene coding for this protein can lead to the most commonly inherited myopathy, Duchenne Muscular Dystrophy

Answer 62

process by which cells divide and reproduce inherent adaptive mechanism for replacing body cells when old cells die or additional cells are needed

Answer 63

Mitosis Meiosis

Answer 64

ovum and sperm haploid (1 set of chromosomes) designed for sexual function one kind of cell

Answer 65

any body cell diploid (2 chromosome sets) and not gametes

Answer 66

1. Well differentiated that are unable to divide or reproduce 2. Parent (progenitor) cells that continue to divide and reproduce 3. Undifferentiated stem cells that can be triggered to enter the cell cycle and produce large numbers of progenitor cells when needed

Answer 67

process in which proliferating cells are transformed into different and more specialized cell types process occurs in orderly steps

Answer 68

Fully differentiated adult cell with specific sets of structural, functional, and life expectancy characteristics

Answer 69

Increased specialization is exchanged for loss of ability to develop different cell characteristics and different cell lines

Answer 70

Cell that remains incompletely differentiated throughout life remains quiescent until cell replenishment is needed one daughter cell retains characteristics of a stem cell while the other differentiated into a parent or progenitor cell with a limited potential for differentiation and proliferation

Answer 71

undergo mitosis

Answer 72

a fertilized ovum

Answer 73

interval between each cell division steps of cell division

Answer 74

G1 (Gap 1) Phase --> S Phase --> G2 (Gap 2) Phase --> M Phase --> loops or G0 Phase

Answer 75

first phase of mitosis cell resumes synthesis of RNA, proteins, and carbohydrates are synthesized but DNA synthesis ceases This is the "Post mitotic phase" The most variable in duration

Answer 76

10-20 hours long DNA Synthesis occurs; gives rise to 2 separate sets of chromosomes (one for each daughter cell)

Answer 77

2-10 hours long Premitotic phase where DNA synthesis ceases; RNA and protein synthesis continue though

Answer 78

Mitosis Phase taking 0.5 to 1 hour Phase of cellular division or mitosis

Answer 79

Variable in length Resting phase - phase in which cells are not actively dividing and are quiescent

Answer 80

Can be anywhere from < 8 hours to > 1 year

Answer 81

Cell division of somatic cells Asexual division Occurs in M Phase Involves DNA replication Each daughter cell contains the same number of chromosomes as the parent cell The 2 resulting daughter cells have identical sets of 23 chromosomes

Answer 82

"Interphase" --> Prophase --> Prometaphase --> Metaphase --> Anaphase --> Telophase --> 2 Diploid Cells PPMAT !

Answer 83

first stage of mitosis where the nuclear membrane breaks down and chromatin in the nucleus condenses into chromosomes

Answer 84

second stage of mitosis where there is no longer a recognizable nucleus Mitotic spindles elongate to specific areas on chromosomes

Answer 85

third stage of mitosis where tension is applied to spindle fibers which align chromosomes in one plane at the center of the cell

Answer 86

fourth stage of mitosis where chromosomes are pulled away from the central plane toward the cell poles

Answer 87

fifth stage of mitosis where chromosomes arrive at cell poles and decondense nuclear envelope re-forms around clusters at each end of the cell

Answer 88

cell division which occurs only in reproductive cells during the formation of gametes (sex cells)

Answer 89

A cell dividing by meiosis duplicates its DNA as with cells undergoing mitosis, BUT splits into 4 new cells instead of two and each contains only one copy of each chromosome - making them haploid

Answer 90

Maintains the chromosome number while mixing gene combinations through crossover

Answer 91

Germ Line Cells

Answer 92

a biological occurrence when paired chromosomes of the same type line up and recombine the genes this process allows parental relation while still having the offspring have different copies from the parents and unique individual characteristics

Answer 93

23 chromosomes

Answer 94

46 chromosomes

Answer 95

Interphase --> Meiosis 1 (PPMAT I) --> Meiosis 2 (PPMAT II) --> 4 Haploid Cells

Answer 96

Meiosis - occurs in S phase of interphase Mitosis: Occurs in S phase of interphase

Answer 97

Meiosis - During prophase I Mitosis - Does no occur in mitosis

Answer 98

Meiosis: During prophase 1 Mitosis: Does not occur

Answer 99

Meiosis: During metaphase I Mitosis: does not occur in mitosis

Answer 100

Meiosis: During metaphase II Mitosis: during metaphase

Answer 101

Meiosis: 4 haploid cells at the end of meiosis II Mitosis: 2 diploid cells at the end of mitosis

Answer 102

phase when DNA replicates before cell division starts

Answer 103

Oogenesis Spermatogenesis

Answer 104

Female sex cell meiosis to produce an ovum

Answer 105

Meiosis I leads to a Secondary Oocyte and a Polar body --> Secondary Oocyte undergoes Meiosis 2 into an Ovum (mature oocyte) and a polar body, and the other polar body splits into 2 polar bodies

Answer 106

1 Mature Ovum 3 Polar Bodies

Answer 107

byproducts of oogenesis with no real biological role

Answer 108

Male sex cell meiosis to produce 4 sperm

Answer 109

Spermatogonium --Mitosis--> Meiosis I occurs leading to 2 secondary spermatocytes --> Meiosis 2 occurs leading to 4 viable daughter spermatids --> the 4 spermatids differentiate into sperm cells

Answer 110

Sperm and Ovum would each get 46 chromosomes leading to a fusion of 92 chromosomes total

Answer 111

1990-2003 Successful mapping of all genes in the human genome

Answer 112

project that shows the relative location of 2 genetic traits and often leads to the specific location of a gene locus

Answer 113

1. Genetic Maps 2. Physical Maps

Answer 114

assume genes occur in a linear pattern in chromosomes, and identify inherited traits that occur at a greater rate together than they would be by chance alone

Answer 115

can be used to clinically ID individuals in a family with a known genetic defect

Answer 116

use linkage studies to estimate distance between chromosomal landmarks

Answer 117

measure the actual distance between chromosomal elements in biochemical units

Answer 118

Isolation can be achieved by fusing the cell with a mouse/rat cell to make a hybrid cell This hybrid cell can then be used to understand genetic mutations and chromosomal abnormalities

Answer 119

viruses and mutations involving cancer

Answer 120

genetic information stored in base pairs

Answer 121

recognizable traits, physical or biochemical associated with a specific genotype

Answer 122

persons in whom the two alleles of a given pair are the same (AA or aa)

Answer 123

persons having different alleles (Aa) at a gene locus

Answer 124

expressed only as a homozygous pairing (aa)

Answer 125

expressed either as homozygous (AA) or heterozygous (Aa)

Answer 126

when only one pair of genes is involved in the transmission of information follows mendelian laws of inheritance

Answer 127

involves multiple genes at different loci with each gene adding a small additive effect in determining a trait Predictable but with less reliability than single gene traits

Answer 128

similar to polygenic inheritance but also includes environmental effects on genes

Answer 129

Shows potential genotypes and single gene inheritance expression for offspring of parents with TWO KNOWN GENOTYPES

Answer 130

refers to the rules of inheritance of a SINGLE GENE TRAIT (one where expression is determined by inputs of 2 alleles, one from each parent) Does not apply to traits needing more than 1 gene (like polygenic)

Answer 131

required only one altered copy of a gene to result in gene expression The child can have the trait as long as one parent has the trait ex: Autosomal Dom - Huntington's Coria Disease

Answer 132

inheritance requires two altered copies of a gene, one from each parent, to result in gene expression ex: Autosomal Rec - Cystic Fibrosis

Answer 133

Inheritance is associated with genes located on the X chromosome

Answer 134

Men are hemizygous (XY) so a mutation on the X chromosome results in gene expression, but women need mutation/change in both X chromosomes to show full expression usually Hemizygous usually related to mother passing the affected X chromosome to the son

Answer 135

person with only one member of a chromosome pair or segment rather than the usual two ex: XY in men

Answer 136

Single Gene Trait Controlling gene trait on an autosomal chromosome expresses regardless of homo or hetero zygosity

Answer 137

Recessive Inheritance

Answer 138

50% for Aa 100% for AA 0% for aa

Answer 139

when a generation arises where no family members are affected (have A)

Answer 140

with equal frequency Males and female can be affected and transmission of male-male is possible

Answer 141

no, successive generations are affected with no generations skipped

Answer 142

Single Gene trait only expressed when homozygous for the recessive allele male and females are affected and can transmit the trait

Answer 143

They can because of carriers usually then occurs in siblings rather than the parents

Answer 144

2. just one creates a carrier potentially

Answer 145

AA - 25% Aa (carriers) - 50% aa (Affected with recessive -25%

Answer 146

only 1 (need 2 in girls)

Answer 147

Females are affected less frequently and less severity if any, but can pass it on to their children

Answer 148

Because men contribute the Y chromosome to boys so they cannot move the X affliction on (but the mother still could if she is a carrier)

Answer 149

Red Green color blindness Parents: X^BY and X^BX^b (25% normal male, 25% normal female, 25% female carrier, 25% color blind male)

Answer 150

accidental errors in duplication of DNA can occur in somatic or germ cells usually acquired but may be inherited

Answer 151

if the DNA is changed in the germ cell and passes on

Answer 152

substitution of one base pair for another the loss or addition of one or more base pairs rearrangement of base pairs environmental agents chemicals radiation (80% of which is environmental)

Answer 153

any part of the genome - transcription, proteins, translation, etc

Answer 154

No effect Beneficial effect Impairment

Answer 155

Slow down protein synthesis Impair protein function Over Synthesize Proteins

Answer 156

1. Genetic Factors 2. Environmental Factors (Fetal Development) 3. Intrauterine Factors (rare)

Answer 157

single gene or multi factorial inheritance or chromosomal aberrations

Answer 158

maternal disease infections drugs taken during pregnancy

Answer 159

fetal crowding positioning entanglement of fetal parts with the amnion

Answer 160

Caused by a single defective or mutant allele at a single gene locus May be present on an autosome or X chromosome May affect one member or both members of an autosomal pair Defects follow the Mendelian patterns of inheritance Characterized by their patterns of transmission which are obtained thru a family genetic history

Answer 161

3 generations

Answer 162

a single mutant allele from an affected parent is transmitted to an offspring regardless of sex

Answer 163

manifested only when both members of the gene pair are affected (both parents unaffected, but are carriers)

Answer 164

Always associated with the X chromosome inheritance pattern is predominantly recessive Women need both X to be affected in this case

Answer 165

conditions are expressed in both males and females, but are more severe in males Mutant X supersedes other X for women in this case and causes the issue You either have the mutant or not, if you do not then you cannot pass a mutant on unlike recessive

Answer 166

Marfan's Syndrome Neurofibromatosis (NF)

Answer 167

Autosomal dom Disorder a connective tissue disorder manifested by changes in the skeleton, eyes, and cardiovascular system Abnormality effects fibrillin 1 (coded for by FBN 1 gene) No cure and diagnosis has major and minor criteria Treatment is just regular system assessments for those at risk since it affects several organ systems

Answer 168

Autosomal dom disorder Condition involving neurogenic tumors that arise from Schwann cells and other elements of the peripheral nervous system Children with this are susceptible for neuro complications including increased incidence of learning disabilities, ADD, speech anomalies, and complex partial tonic clonic seizures

Answer 169

Phenylketonuria (PKU) Tay-Sachs Disease

Answer 170

Autosomal Rec Disorder A rare metabolic disorder caused by a deficiency of the liver enzyme phenylalanine hydroxylase Insidious onset and difficult to assess Need a special diet If untreated there will be impaired speech, intellectual inability, and other neurodevelopmental impairments Testing for PKU is mandatory and occurs 24-48 hours post-birth

Answer 171

Auto Rec Disorder A variant of a class of lysosomal storage diseases known as GANGLIOSIDOSE Ganglioside in the membranes of nervous tissue are deposited in the neurons of the CNS and retina because of a failure of lysosomal degradation Failure to break down GM2 ganglioside of a cell membrane leads to this Infants appear normal at birth, but by 6-10 months there is decreased responsiveness, progressive weakness, muscle flaccidity, and death by age 4-5 This one highlights the important of family genetic history

Answer 172

Red green color blindness Hemophilia A

Answer 173

X linked Rec Disorder a person cannot distinguish between shades of red and green So, on the X chromosome a gene for red sensitive opsin is need one or several green opsin so the sequences are similar and overlap leading to a crossover error visual acuity is normal more in males than females

Answer 174

X Linked Rec Disorder Blood cannot clot properly due to a deficiency in factor VIII Abnormally heavy bleeding even from a small cut, easy bruising, and potential internal bleeding into the muscles and joints can occur Accounts for most cases (1 in 4500) while Hemophilia B is 1in 20,000 live male births

Answer 175

new mutations in the family rather than inherited from the mother

Answer 176

Perinatal testing checking for bleeding from the umbilical cord

Answer 177

The carriers may show some mild signs of Factor VIII deficiency like easy bruising or taking longer to stop bleeding, but not all women show s/s just because they are carriers

Answer 178

X Linked Disorder associated with a fragile site on the X chromosome where the chromatin fails to condense during mitosis Affects more men than females (1 in 4000 rather than 1 in 6000) - but nearly 4x the amount of women are carriers causes intellectual disability in all ethnic groups and races

Answer 179

fragile x syndrome

Answer 180

Fragile site of the X chromosome Fragile x syndrome is characterized when many CGC repeats occur here mutations here are unusual compared to other genes

Answer 181

instability in the gene leading to increased numbers of a portion of a gene in the CGC repeat region (50-200 CGC repeats)

Answer 182

A mutation where the person does not have the disorder but are at risk for passing it on to children or grandchildren as well as a risk for adult onset disorders

Answer 183

A CGC triplet repeat of 50-200 times

Answer 184

Fragile X Tremor Ataxia Syndrome (FXTAS)

Answer 185

Primary Ovarian Insufficiency (POI) can cause premature menopause

Answer 186

All males with it will have Fragile x syndrome However, some females with it will not have behavioral, cognitive, or physical features of Fragile x Syndrome

Answer 187

Both Yet Neither!! Used to be thought mothers passed it on, but women express it differently when only have one problematic X chromosomes so it is hazy Just know the disorder is from a fragile site

Answer 188

They are caused by multiple genes and environmental factors - but the exact number of genes is unknown

Answer 189

No they do not follow a clear cut pattern of inheritance disorders can be expressed during fetal life and be present at birth, or expressed later in life

Answer 190

Cleft lip or palate clubfoot Congenital dislocation of the hip congenital heart disease pyloric stenosis urinary tract malformation

Answer 191

multi factorial inheritance disorder can vary from a small notch in the vermillion border of the upper lip to complete separation from the palate to the floor of the nose

Answer 192

multi factorial inheritance disorder internal rotation of foot around ankle can be mild or severe can be in one or both feet

Answer 193

"Developmental Hip Dysplasia" multi factorial inheritance disorder hip joint does not form easily and the ball is loose in the socket allowing easy dislocation Most often present at birth but can develop in the first year of life

Answer 194

multi factorial inheritance disorder thickening or swelling of the pylorus which causes severe forceful vomiting in the first few months of life also called "Infantile Hypertrophic Pyloric Stenosis"

Answer 195

Major category of genetic disease counting for a large proportion of early miscarriages, intellectual disabilities, and congenital malformations Can be from abnormal numbers of chromosomes in autosomes or sex chromosomes, or it can be related to alteration in the structure of one or more chromosomes

Answer 196

Reproductive Wastage Congenital malformations intellectual disability *it is linked to 60+ identifiable syndromes present at birth

Answer 197

early gestational abortions

Answer 198

Structural Chromosome Abnormalities Numeric Disorders involving Autosomes Numeric Disorders involving Sex Chromosomes

Answer 199

Trisomy 21 Monosomy X Polysomy X

Answer 200

Turner Syndrome Klinefelter Syndrome

Answer 201

Downs Syndrome Extra/3 chromosomes on position 21 rather than 2 Can occur on the 13th and 18th chromosomes but 21 is the most common

Answer 202

presence of only one member of a chromosome pair mostly due to nondisjunction during meiosis often leads to a spontaneous abortion when it is associated with autosomes

Answer 203

more than 2 chromosomes in a cell

Answer 204

Loss or partial loss of the X chromosome Leads to early pregnancy loss with 99% not surviving first trimester Usually only in girls as its missing an X chromosomes or part of a second X chromosome

Answer 205

At Female Sexual maturity, there is no ovulation or menstruation that occurs short stature congenital heart disease bicuspid aortic valve and/or alteration of aorta short webbed neck

Answer 206

XXY karyotype - 47 - extra X chromosome only in males

Answer 207

Manifests as a teen and young adult testosterones drops and follicle stimulating hormone increases (FSH)

Answer 208

turners syndrome

Answer 209

the mother

Answer 210

the maternal line mom can pass it to all children but only the daughters will pass the mutation to their children

Answer 211

total content of mitochondrial genes and the proportion that are mutant

Answer 212

Very rare as of September 2020 there were about 300 in existence

Answer 213

It often affects more than 1 body organ system muscle weakness stroke like episodes and seizures activity intolerance myocardial myopathy *most syndromes have similar symptoms due to it impacting the neuromuscular system*

Answer 214

Agents that produce abnormalities during embryonic or fetal development It is a chemical, physical, or biological agent that produces these abnormalities

Answer 215

Radiation Chemicals and Drugs Infectious Agents Folic Acid Deficiency (showing how not just exposure, but nutritional deficiency counts too)

Answer 216

Fetal Alcohol Syndrome Cocaine Babies Folic Acid/Nutritional deficiencies Prenatal smoking

Answer 217

different systems have different sensitivities at different times of development

Answer 218

About the first 2-4 weeks of development

Answer 219

About 2.5 to 6th week of development

Answer 220

about 3.5 to 7th week of development

Answer 221

about 3.5 to the 7.5 week of development

Answer 222

about the 6.5 to 8.5 week of development or so

Answer 223

Assessment of Genetic Risk and Prognosis Detailed Family History Pregnancy History Detailed Accounts of Birth Process Accounts of Postnatal Health and Development Physical Examination of Affected Child and Family Laboratory Testing

Answer 224

Information Reassurance Knowledge

Answer 225

Provides parents with information needed to make informed choices about having a child with an abnormality

Answer 226

Provides reassurance and reduces anxiety among high risk groups

Answer 227

allows parents at risk to begin pregnancy with assurance that knowledge about the presence or absence of a disorder can be confirmed with testing

Answer 228

Maternal Blood Screening Ultrasonography (non invasive allowing you to see soft tissue structures) Obtaining Fetal Cells: Amniocentesis, Chronic Villus Sampling, Fetal Biopsy, Percutaneous Umbilical Fetal Blood Sampling Cytogenic and Biochemical Analysis

Answer 229

Between 11 and 13 weeks

Answer 230

Invasive maternal testing for fetal diagnosis can be done 13/14 to 20 weeks of pregnancy Detects chromosomal abnormalities, neural tube defects, and genetic disorders obtains fetal cells from the amniotic fluid via a needle 98-99% accurate but cannot determine severity of a birth defect