Genetics Ch 11-13

Front 1

A mutation changes the __________ sequence of a gene

Back 1

Nucleotide

Front 2

Many mutagens are chemicals or forms of ___________

Back 2

Radiation

Front 3

T or F different mutations can cause the same disorder?

Back 3

True

Front 4

The effect of a particular mutation depends on where in the ________ the change occurs

Back 4

Protein

Front 5

Recessive mutations are generally associated with a loss/gain of function phenotype?

Back 5

LOSS

Front 6

Dominant mutations are generally associated with a loss/gain of function phenotype?

Back 6

GAIN

Front 7

DNA repair reduces the _________ rate

Back 7

Mutation

Front 8

Defects in DNA repair can cause a variety of disorders including _________

Back 8

Cancer

Front 9

What type of mutations occur during gamete formation and will be passed on to the offspring?

Back 9

Germline mutations

Front 10

What type of mutations occur in the tissues not passed on to offspring?

Back 10

Somatic mutations

Front 11

What type of mutations cause many types of cancer because they occur in the tissues?

Back 11

Somatic mutations

Front 12

What type of mutations have increased in the population and occur due to natural selection?

Back 12

Advantageous

Front 13

What was the first disease to be understood at the molecular level?

Back 13

Sickle cell anemia

Front 14

The difference between normal and sickle cell hemoglobin is one _________ in the beta chain

Back 14

Amino acid

Front 15

In sickle cell anemia, normally occuring ________ is replaced by ________

Back 15

Glutamate/valine

Front 16

The DNA change in sickle cell anemia is a single base change in the coding strand from G_G to G_G

Back 16

GAG/GTG

Front 17

What happens to the beta chains in sickle cell anemia under low oxygen conditions?

Back 17

They stick together and form long fibers that deform the cells ("sickling")

Front 18

What is the term that means damaged sickled blood cells have caused damage and pain to capillary beds resulting in a sickle cell crisis?

Back 18

Hydroxyurea

Front 19

In which race is sickle cell anemia most common?

Back 19

African descent

Front 20

Which amino acid (Valine/Glutamate) contains an acidic side chain?

Back 20

Glutamate

Front 21

Which amino acid (Valine/Glutamate) contains a hydrophobic side chain?

Back 21

Valine

Front 22

Name 5 places collagen is found

Back 22

Bone, cartilage, skin, tendons, dentin

Front 23

What three amino acids form collagen?

Back 23

Glycine, hydroxyproline, and proline

Front 24

Of the three amino acids in collagen, which one is the smallest?

Back 24

Glycine

Front 25

What is the disease caused by one glycine out of the hundreds of amino acids in collagen being replaced by alanine, resulting in weakened collagen?

Back 25

Osteogenesis imperfecta

Front 26

In the disease osteogenesis imperfecta, what is the amino acid that replaces a single glycine in the collagen that results in weakened collagen?

Back 26

Alanine

Front 27

What is another name for the collagen disorder Brittle Bone disease?

Back 27

Osteogenesis imperfecta

Front 28

What is the disease caused by a mutation that prevents procollagen from being processed into mature collagen?

Back 28

Ehlers-Danlos syndrome

Front 29

A substance that causes mutations is known as a ________

Back 29

Mutagen

Front 30

Mutations may arise __________ or be_________ by environmental causes

Back 30

Spontaneously/ induced

Front 31

Two normal parents have a child with achondroplasia. The genetic condition was not inherited, it arose ___ _______ in one of the gametes he developed from

Back 31

De Novo (anew; afresh)

Front 32

__________ mutation rates usually arise from errors in replication

Back 32

Spontaneous

Front 33

Larger/smaller genes have a higher spontaneous mutation rate

Back 33

Larger

Front 34

In 30% of DMD cases the mutation is __________ because the gene is very large. (Other cases are X-linked recessive)

Back 34

spontaneous

Front 35

Neurofibromatosis type 1 has a very high/low mutation rate

Back 35

HIGH

Front 36

What 2 types of mutations occur frequently at palindrome sequences?

Back 36

Deletions and insertions

Front 37

Mutations are likely to occur at ________ DNA sequences because they confuse the replication enzymes

Back 37

Repetetive

Front 38

Give an example of a disorder due to a mutation involving direct repeats

Back 38

Alpha thalassemia

Front 39

Give an example of a disorder due to a mutation involving repetetive DNA sequences

Back 39

Alkaptonuria - CCC

Front 40

Chemicals, environmental pollutants and medical treatments can all cause what type of mutation?

Back 40

Induced mutation

Front 41

Cells can repair most of the mutation damage from a _____ mrem dose of radiation

Back 41

360

Front 42

What is the term for chemicals that structurally resemble nucleotides and are incorporated into DNA or RNA and thus pairs with a different nucleotide than typically fits into that space

Back 42

Base analogs

Front 43

What is the environmental cause of mutations that changes a base for example a C to a G

Back 43

Chemical modification of bases

Front 44

What is an environmental factor that causes mutations by producing frame shifts?

Back 44

Chemicals that bind to DNA

Front 45

What is an example of a chemical that binds to DNA and causes a frame shift?

Back 45

Alpha benzopyrene

Front 46

What is the chemical found in cigarette smoke that is a flat molecule that can slip between base pairs of DNA and cause mutations?

Back 46

Alpha benzopyrene

Front 47

Chemicals that bind to DNA and cause a frame shift mutation are referred to as ________ agents

Back 47

Intercalating

Front 48

A change in a single DNA base is referred to as a _________ mutation

Back 48

POINT

Front 49

________ mutations do not change the code eg a mutation that changes UCU to UCG - still codes for serine

Back 49

Silent

Front 50

________ mutations change the genetic code to that of a different amino acid

Back 50

Missense

Front 51

Give an example of a disorder caused by a missense mutation

Back 51

Sickle Cell Anemia - GAG mutates to GUG

Front 52

What type of mutation changes codons for amino acids to STOP codons resulting in a shortened protein?

Back 52

Nonsense mutations

Front 53

Give 2 examples of a splice site mutation

Back 53

BRCA1 produces a protein missing several amino acids due to exon skipping. Familial dysautonomia -exon skipping in a nervous system gene

Front 54

What is the term that means a mutation has caused an exon to be missed out at splicing?

Back 54

Exon skipping

Front 55

Deletions and insertions may account for ____-____% of all known mutations

Back 55

5-10%

Front 56

What type of mutation would occur if UGC were changed to UGA?

Back 56

NONSENSE MUTATION

Front 57

What type of mutation would occur if UGU were changed to UGC?

Back 57

SILENT MUTATION

Front 58

If three bases were inserted into DNA would there be a frame shift?

Back 58

NO

Front 59

_________ genes are DNA sequences that are very similar to the protein encoding portion of a gene but are not translated and are most likely evolutionary "leftovers"

Back 59

Pseudogenes

Front 60

________ disease, a lysosomal storage disorder can result from crossover between the normal gene and the pseudogene

Back 60

Gaucher disease

Front 61

Jumping genes also known as _______ can interrupt a gene when they jump into it causing mutation

Back 61

Transposons

Front 62

Myotonic dystrophy shows anticipationdue to expansion of a CTG triplet. It is an example of a ______ _______ disorder

Back 62

Triplet repeat disorder

Front 63

What is the triplet repeat disorder caused by the DNA bending into hairpins which interfere with replication?

Back 63

Fragile X

Front 64

Triplet repeat disorders are described as _____ _____ _____ _____ _____ mutations as they cause something to happen that should not

Back 64

Dominant toxic gain of function

Front 65

Name 3 disorders due to triplet repeat gene expansions

Back 65

Huntington's disease, fragile X, myotonic dystrophy

Front 66

All cells have ______ systems to repair damaged DNA

Back 66

Enzyme

Front 67

________ repair corrects errors in replication

Back 67

Mismatch repair

Front 68

________ repair corrects damage due to UVB and oxidative damage

Back 68

Nucleotide excision repair

Front 69

______ repair corrects damage due to oxidative damage

Back 69

Base excision repair

Front 70

What is the rare autosomal recessive disorder in which individuals lack an efficient nucleotide excision repair system?

Back 70

Xeroderma pigmentosum

Front 71

In a child with xeroderma pigmentosum, why would they need to stay indoors and avoid exposure to the sun?

Back 71

They do not have an efficient nucleotide excision repair system so damage from the sun is difficult to repair and early death from skin cancer is common

Front 72

What is the incidence of xeroderma pigmentosum?

Back 72

1:250,000

Front 73

What is the term for the disease arising from a deficiency in DNA repair enzymes that results in dwarfism, mental retardation, failure to develop, scaly hair and rapid aging?

Back 73

Trichothiodystrophy

Front 74

What are the results caused by trichothiodystrophy a disorder arising from a deficiency in DNA repair enzymes?

Back 74

Dwarfism, mental retardation, failure to develop, scaly hair and rapid aging.

Front 75

What is the autosomal recessive disease resulting from a defect in a kinase enzyme involved in a cell cycle checkpoint?

Back 75

Ataxia Telangiectasis (AT)

Front 76

What are the complications arising from the disease ataxia telangiectasis?

Back 76

Very high incidence of cancer, Diabetes, developmental problems and lung infections

Front 77

What is the life expectancy of a patient with Ataxia Telangiectasis (AT)?

Back 77

Death in late teens/early 20's

Front 78

What is the incidence of ataxia telangiectasis?

Back 78

1:40,000

Front 79

Are heterozygotes of the ataxia telangiectasis gene rare?

Back 79

NO - greater than 1.5% of the population are carriers

Front 80

What is the increased risk to the heterozygote of the ataxia telangiectasis gene?

Back 80

2-6 X's Increased risk of CANCER

Front 81

What type of colon cancer is inherited?

Back 81

Hereditary nonpolyposis colon cancer

Front 82

How does hereditary nonpolyposis colon cancer occur?

Back 82

In inherited gene that results in a defect in a mismatch repair enzyme located on chromosome 2

Front 83

Is hereditary nonpolyposis autosomal dominant or recessive?

Back 83

DOMINANT

Front 84

What is the incidence of hereditary nonpolyposis?

Back 84

Common - 1:200

Front 85

A disease in which individuals have a high risk of cancer resulting from a defect in a kinase enzyme

Back 85

Ataxia telangiectasis

Front 86

Exon skipping in the BRCA 1 gene causes this disease

Back 86

Breast cancer

Front 87

Children develop multiple skin cancers with exposure to sunlight with this disease

Back 87

Xeroderma pigmentosum

Front 88

A triplet repeat disorder affecting men more than women

Back 88

Fragile X

Front 89

Shows a high spontaneous mutation rate due to the large size of the gene

Back 89

Dystrophin gene causing DMD

Front 90

A mutation such as GGG changed to GGA

Back 90

SILENT

Front 91

This would happen if two bases were added into a coding sequence

Back 91

Frameshift

Front 92

Adjacent bases that can form dimers when exposed to UV light

Back 92

Thymine

Front 93

This is an example of such a sequence GCTAGC

Back 93

Palindrome

Front 94

The smallest amino acid found in proteins

Back 94

Glycine

Front 95

What is the branch of genetics that links chromosome variations to specific traits?

Back 95

Cytogenetics

Front 96

What is the term for the addition or deletion of chromosomes that are responsible for a variety of disorders?

Back 96

Chromosomal aneuploids

Front 97

The structure of individual chromosomes can be affected by what 4 things?

Back 97

Deletions, duplications, inversions, or translocations

Front 98

Clinical cytogenetics is the study of __________

Back 98

Chromosomes; their structure and inheritance

Front 99

Cytogenetic disorders are present in nearly ____ of live births; ______% of pregnancies in women older than 35 and _____% of spontaneous first trimester abortions

Back 99

1%; 2%; 50%

Front 100

What are 4 indicators for chromosomal analysis in a child?

Back 100

Problems of early growth and development such as: failure to thrive, developmental delay, ambiguous genitalia and/or mental retardation

Front 101

What types of incidents are clinical indications for chromosomal analysis to allow accurate genetic counseling for future pregnancies?

Back 101

Still birth and neonatal death, fertility problems, two or more miscarriages, family history of chromosomal abnormality in 1st degree relative, neoplasia and pregnancy in older women (over 35)

Front 102

What percentage of parents with infertility or two or more miscarriages are found to have chromosomal abnormalities?

Back 102

3-6%

Front 103

Why is neoplasia in indication for chromosomal analysis?

Back 103

Many cancers are associated with one or more chromosomal abnormalities

Front 104

What are the 3 essential parts of the chromosome?

Back 104

Telomere, centromere and origins of replication

Front 105

What are the origins of replication in a chromosome?

Back 105

Regions of DNA where replication forks start

Front 106

Why are telomeres important?

Back 106

They act as caps to keep the sticky ends of the chromosome from randomly clumping together

Front 107

What is the purpose of the centromere?

Back 107

Joins 2 sister chromatids to make up X shaped chromosome. Site where kinetochore is formed, point of attachment for spindle fibers

Front 108

Approximately how many bases and what % of the genome are contained in chromosomes 21 and 22?

Back 108

33 million - 1% of the genome

Front 109

How many genes are contained on chromosome 21?

Back 109

245

Front 110

How many genes are contained on chromosome 22?

Back 110

525

Front 111

Which chromosome has a higher density chromosome 21 or chromosome 22?

Back 111

22

Front 112

What are the non-staining gaps on chromosomes called?

Back 112

Fragile sites

Front 113

Fragile X syndrome occurs when the code CGG is repeated more than ______ times so that the FMR-1 gene turns off & can not produce the protein that allows normal brain development

Back 113

200

Front 114

What is the gene involved in fragile X syndrome?

Back 114

FMR-1 gene

Front 115

What is the term for the dark staining on chromosomes that consists of highly repetitive sequences and is for the most part genetically inactive?

Back 115

Heterochromatin

Front 117

What is the lighter staining on chromosomes that harbors more protein encoding genes?

Back 117

Euchromatin

Front 118

A karyotype is an image of __________

Back 118

The chromosomes of a single cell

Front 119

Which is the largest of the chromosomes?

Back 119

1

Front 120

Chromosomes are numbered in order of size - which is the smallest?

Back 120

23

Front 121

Karyotypes are described by 5 things. What are they?

Back 121

# of chromosomes, sex chromosome content, presence or absence of individual chromosomes, nature and extent of any abnormality, structural alterations

Front 122

How would you translate the following description of a karyotype: 46,XY del(5p)

Back 122

A male with a deletion in the short arm of chromosome 5 but otherwise chromosomally normal (deletion on chromosome 5 = 5 cri du chat syndrome)

Front 123

How would you translate the following description of a karyotype: 47, XX+21

Back 123

A female with an extra chromosome 21 otherwise chromosomally normal. Down's Syndrome

Front 124

How would you translate the following description of a karyotype: 47, XX +18

Back 124

A female with an extra chromosome 18 otherwise chromosomally normal. Edwards Syndrome

Front 125

Less than ___% of newborns are born with chromosomal abnormalities. What does this tell us about chromosome abnormality?

Back 125

1%/ most are not compatible with life

Front 126

What is the term that means extra (full) sets of chromosomes are present?

Back 126

Polyploidy

Front 127

What is the term that means one extra set of chromosomes is present and is responsible for 17% of spontaneous abortions mostly due to 2 sperm cells fertilizing one egg?

Back 127

Triploidy

Front 128

What is the term that means there are 2 extra sets of chromosomes present and is responsible for 5% of spontaneous abortions due to a failure in cytokinesis in the first mitotic division?

Back 128

Tetraploidy

Front 129

What is the term for changes in the number of individual chromosomes?

Back 129

Aneuploidy

Front 130

What is the leading cause of aneuploidy?

Back 130

Non disjunction at meiosis

Front 131

What is the term for an extra individual chromosome?

Back 131

Trisomy

Front 132

What is the term that means an individual chromosome is missing?

Back 132

Monosomy

Front 133

Are any autosomal monosomies lethal?

Back 133

ALL are lethal

Front 134

What are the most common aneuploidies?

Back 134

Trisomy 13,18,21 and an extra or missing X or Y chromosome

Front 135

When a person is affected with aneuploidy or polyploidy the individuals exhibit ______ where a genetic or chromosomal abnormality occurs in some body cells

Back 135

Mosaicism

Front 136

In which chromosome is it common to see trisomies in embryos but is not seen in newborns which means it is not compatible with life?

Back 136

Chromosome 16

Front 137

Live births occur with trisomy of which 3 chromosomes?

Back 137

13, 18, and 21

Front 138

Trisomy 13 causes what syndrome?

Back 138

Patau syndrome

Front 139

Trisomy 18 causes what syndrome?

Back 139

Edwards syndrome

Front 140

Trisomy 21 causes what syndrome?

Back 140

Down Syndrome

Front 141

What is the incidence of Patau syndrome?

Back 141

1:15,000

Front 142

What is the incidence of Edwards syndrome?

Back 142

1:11,000

Front 143

What is the incidence of Down Syndrome?

Back 143

1:900

Front 144

What is the chromosomal anomaly that is usually lethal at a young age (mean survival 6 mos) causes multiple facial malformations, and severe malformation of the brain and heart?

Back 144

Trisomy 13- Patau syndrome

Front 145

What is the chromosomal anomaly that is usually lethal at a young age( survival 2-4mos), causes low birth weight, slow growth, mental retardation and heart malformations. 80% are female (males more likely to spontaneously abort)

Back 145

Trisomy 18 - Edwards Syndrome

Front 146

What are some of the characteristics of Down Syndrome?

Back 146

Wide flat skull, large tongue, physical growth and mental development is retarded, 40% have congenital heart defects, level of function varies

Front 147

In which trisomy syndrome are children very susceptible to infections and have a higher chance of leukemia?

Back 147

Down Syndrome

Front 148

What is the survival age of a person with Down Syndrome?

Back 148

Sometime in the 5th decade of life

Front 149

In which trisomy caused syndrome do older individuals develop amyloid plaques in the brain similar to those seen in Alzheimer disease?

Back 149

Down Syndrome - Trisomy 21

Front 150

What is the syndrome sometimes referred to as XO in which individuals have only one X chromosome?

Back 150

Turner Syndrome

Front 151

What is the incidence of Turner Syndrome?

Back 151

1:2,000 births (99% fetuses die before birth

Front 152

What is the phenotype of Turner's Syndrome?

Back 152

Female, wide set nipples, webbing of neck, short stature, sexually immature, infertile, normal intelligence, often not dx'd till puberty when menstruation fails to occur

Front 153

Many with Turner's syndrome are mosaics - what does this mean?

Back 153

XO and XX - may be fertile but carries high risk of chromosomal abnormalities

Front 154

Why is there no record of an individual without an X chromosome surviving?

Back 154

The X chromosome carries genes essential for life

Front 155

What is the disorder that occurs in 1:1000 women in which they display a taller stature, possible reduced mental ability and menstrual irregularities though they are usually fertile?

Back 155

Triplo X - XXX

Front 156

How many barr bodies would you expect to see in the cells of a woman with XXX genotype?

Back 156

2

Front 157

What is the disorder that occurs in 1:1000 males in which some individuals are underdeveloped sexually, lack secondary sexual characteristics, and may be slow learners?

Back 157

Klinefelter Syndrome - XXY

Front 159

What is the genotype forTurner's syndrome?

Back 159

XO

Front 160

What is the genotype for Klinefelter syndrome?

Back 160

XXY

Front 161

What is the genotype for Triplo X?

Back 161

XXX

Front 162

How many barr bodies would you expect to see in the cells of a man with Klinefelter syndrome?

Back 162

ONE

Front 163

Which syndrome afffects males only Turners or Klinefelters?

Back 163

Klinefelters

Front 164

Which syndrome affects females only Klinefelters or Triplo X

Back 164

Triplo X

Front 165

What is the disease also known as "super male"?

Back 165

Jacob's syndrome

Front 166

What is the incidence of Jacob's syndrome?

Back 166

1:1000

Front 167

What are some of the symptoms of Jacob's syndrome?

Back 167

Greater height, higher levels of testosterone, acne is prevalent, normal sexual development, fertile

Front 168

What is the genotype of someone with Jacob's syndrome?

Back 168

XYY

Front 169

What syndrome is associated with a large deletion of the short arm of chromosome 5 (the breakpoints vary but all lack band 15) and causes mental retardation?

Back 169

Cri Du Chat Syndrome

Front 170

Most cases of cri du chat syndrome are anticipated/sporadic?

Back 170

Sporadic

Front 171

Duplications are more likely to have an effect if the duplication is ______ and involves ______ genes. Only when _______ genes are involved do symptoms arise

Back 171

Large/several/ several

Front 172

What is the technology called that is used to detect deletions and duplications?

Back 172

Fluorescence In Situ Hybridisation - FISH

Front 173

What is the term that means regions of the chromosome are "flipped around"?

Back 173

Inversions

Front 174

What would happen to the gametes of an individual that is heterozygous for an inversion?

Back 174

They will have abnormal chromosomes - unbalanced gametes

Front 175

_________ occur when a chromosome segment is moved to another non homologous chromosome (chromosomes that are not members of the same pair)

Back 175

Translocations

Front 176

In which type of translocation (reciprocal/robertsonian) is not information lost but there may be gene disruption that can cause disease?

Back 176

Reciprocal

Front 177

Why would there be a tendency for pregnancies to end in spontaneous abortion in an individual who is a translocation carrier?

Back 177

They will produce unbalanced gametes

Front 178

What type of translocations (reciprocal/ Robertsonian) involves the loss of the short arms of 2 non homologous chromosomes leaving the centromeres to fuse?

Back 178

Robertsonian

Front 179

5% of _________ Syndrome cases involve a Robertsonian translocation between chromosomes 21 and 14

Back 179

Down Syndrome

Front 180

T or F It is possible for an individual to have Down Syndrome but not have 47 chromosomes

Back 180

TRUE

Front 181

How is it possible for an individual to have only 46 chromosomes and yet have Down Syndrome?

Back 181

Robertsonian translocation - 14 and 21 fuse together - not true trisomy called translocation Down Syndrome or familial Down Syndrome.

Front 182

What is the term that means non disjunction results in an individual inheriting both chromosomes from one parent?

Back 182

Uniparental Disomy

Front 183

A woman with only one X chromosome has this syndrome?

Back 183

Turner's

Front 184

This karyotype is 69, XXX

Back 184

Triploid

Front 185

Found at the end of a chromosome

Back 185

Telomer

Front 186

A change in the number of individual chromosomes

Back 186

Aneuploidy

Front 187

Cri Du Chat is caused by this

Back 187

Deletion

Front 188

When a chromosome segment is moved to another non homologous chromosome

Back 188

Translocation

Front 189

A disease resulting from a deletion on chromosome 5 short arm

Back 189

Cri Du Chat

Front 190

The individual with trisomy 21 has ______ Syndrome

Back 190

Down

Front 191

A _____ is a group of members of the same species in a given geographical area who are capable of mating and producing offspring

Back 191

Population

Front 192

The _____ _____ _____ was assembled from the DNA of 10 individuals

Back 192

Human genome project

Front 193

________ are more genetically diverse than ________ (pick one for each - populations/individuals)

Back 193

Population/individuals

Front 194

What is the term for the set of information carried in the population?

Back 194

Gene pool

Front 195

The allele _______ describes how often a particular allele appears in the gene pool of a particular population

Back 195

Frequency

Front 196

What is the most common allele for Cystic Fibrosis?

Back 196

F508 allele

Front 197

How is allele frequency in a population calculated?

Back 197

from the occurrence of the persons with the disease plus the alleles carried in the heterozygotes

Front 198

What is the name of the Law that relates the allele frequency?

Back 198

Hardy Weinberg Law

Front 199

What is the formula for the Hardy Weinberg Law?

Back 199

P2+2pq+q2=1

Front 200

In the Hardy Weinberg equation the individuals in the population with cystic fibrosis would be represented as? p,q,2pq,p2,q2

Back 200

Q2

Front 201

What is the frequency of sickle cell anemia in the black population if heterozygote frequency is 1/12?

Back 201

1/12 X 1/12 = 0.0069 1:144 chance of affected child is 25% so 144 X 4 = 576

Front 202

What is the term for molecular scissors or a protein that recognizes specific short nucleotide sequences and cuts DNA at those sites?

Back 202

Restriction enzyme

Front 203

How does DNA profiling work?

Back 203

Detects copy number variants of very short repeated sequences found in the non-coding region of the genome.

Front 204

What is the procedure of analyzing the DNA in samples of a person's body tissue or body fluid for the purpose of identification?

Back 204

DNA profiling

Front 205

If DNA differs in size by only one base is it possible for DNA profiling to recognize the difference?

Back 205

YES

Front 206

Hardy Weinberg Law has a number of assumptions list them

Back 206

Large population, random mating, all genotypes have = ability to reproduce, no other factors to change allele frequency (no migration, mutation etc…)

Front 207

Over time populations that drank milk accumulated moer _____ ____ alleles.

Back 207

Lactose tolerant

Front 208

What is the term that means differential reproduction of better adapted genotypes?

Back 208

Natural selection

Front 209

The ability of a certain genotype to survive and reproduce is a measure of its _______

Back 209

Fitness

Front 210

Over _____ % of marriages occur between individuals who are born less than ____ miles apart!

Back 210

30/10

Front 211

As groups of people move from one area to another they change the allele frequencies of the populations they move into this is an example of changing allele frequencies due to _______

Back 211

Migration

Front 212

What is the term that means humans usually choose a mate who is similar to themselves

Back 212

Non-random mating

Front 213

What is the term that means small groups of individuals may separate from a larger population and if their genetic makeup is not representative of the population then allelic frequencies will change?

Back 213

Genetic drift

Front 214

Groups with a small number of original members show a profound _____ _____ (rare genes from those of the original members become amplified in the population)

Back 214

Founder effect

Front 215

_____ _____ occur when large numbers of a population die leaving only a small number of individuals to reproduce.

Back 215

Genetic bottlenecks

Front 216

What are 2 groups in the US with founder effects?

Back 216

Amish and Mennonites of Lancaster County Pennsylvania

Front 217

What is the advantage to heterozygotes with the sickle cell anemia gene?

Back 217

Resistance to malaria

Front 218

Regions of the world where there are high incidences of malaria also have high incidence of sickle cell heterozygotes. What is the term that describes this phenomenon?

Back 218

Balanced polymorphism

Front 219

What is the term for the advantage of one organism over its competitors that causes it to be favored in survival and reproduction rates over time?

Back 219

Selective advantage

Front 220

In what 2 diseases might we see selective advantage?

Back 220

Sickle cell anemia, cystic fibrosis, glucose 6 phosphate dehydrogenase deficiency, prion diseases and PKU

Front 221

What advantage does one who is heterozygous for he cystic fibrosis gene have?

Back 221

Less susceptible to diarrheal diseases such as cholera and typhoid fever - may be way incidence of CF is higher in European populations

Front 222

What is the X linked recessive disease that is usually asymptomatic but some meds or foods can cause hemolytic anemia (most common enzyme deficiency in man!)

Back 222

Glucose 6 phosphate dehydrogenase deficiency

Front 223

What advantages does one who is heterozygous for the glucose 6 phosphate dehydrogenase deficiency disease have?

Back 223

Resistance to malaria

Front 224

What is a selective advantage for prion diseases?

Back 224

Heterozygotes show resistance to the prion

Front 225

Why did so many people not die in Papua New Guinea after practicing canibalism and eating infected brains?

Back 225

High incidence of heterozygotes among their population

Front 226

PKU heterozygotes have an elevated concentration of phenylalanine in their blood which may act to protect against a fungal toxin found in a ______ mould.

Back 226

WHEAT

Front 228

All of the genes in a population

Back 228

Gene pool

Front 229

Has different alleles

Back 229

Heterozygote

Front 230

Uses DNA evidence and population data to determine the likelihood of a match

Back 230

DNA profiling

Front 231

The equation that relates to gene frequencies?

Back 231

Hardy Weinberg Law

Front 232

When a population is reduced to a small number and then rebounds

Back 232

Bottleneck

Front 233

Alpha-benzopyrene is of concern because:

Back 233

It binds to DNA causing a frame shift

Front 234

Which amino acid appears in every third position in the protein collagen?

Back 234

Glycine

Front 235

Which repair system corrects errors arising during replication?

Back 235

Mismatch repair

Front 237

Which of the following mutations is a missense mutation? UUA to CUA, UU to UUC, UUC to UCC, UUA to UAA, UCU to UCC

Back 237

UUA to UAA - different amino acid (to change to STOP code is NONSENSE!)

Front 238

An example of a disease caused by a defect in DNA repair systems is : Xeroderma pigmentosum, Fragile X, Osteogenesis imperfecta, Diptheria or Huntington's?

Back 238

Xeroderma Pigmentosum

Front 239

Which of the following is aneuploidy: 1. 46,XX; 2. 69,XXX; 3. 47xx+21; 4. 45,X; Both 3 & 4

Back 239

Both 3 & 4 - change in the number of individual chromosomes

Front 240

How many barr bodies would be seen in the cells of a man with Klinefelters syndrome?

Back 240

1

Front 241

The dark staining regions of chromosomes containing highly repetetive sequences are termed:

Back 241

Heterochromatin

Front 242

Which of the following karyotypes is NOT considered lethal: 47,xx+16; 69,XXY; 45,Y; 45,X; 47,XY+2

Back 242

45,X - Turner's

Front 243

An individual with 46 chromosomes and a Robertsonian translocation between chromosomes 12 and 21 has which condition (be precise)

Back 243

Familial Down Syndrome

Front 244

If the carrier frequency for cystic fibrosis is 1:23 for Caucasians of European descent. What is the frequency of cystic fibrosis in this population?

Back 244

.05%

Front 245

Heterozygotes of this disease appear to be less susceptible to the effects of cholera

Back 245

Cystic fibrosis

Front 246

When many individuals in a population are lost leaving only a few to replenish the population this is described as a population ----

Back 246

Bottleneck

Front 247

All of the alleles in a population make up the _____ pool

Back 247

Gene

Front 248

The enzymes used to chop DNA into specific fragments are known as

Back 248

Restriction enzymes