Genetics and Pedigree Analysis

Question 0

Biological maps that tell us who we are, where we came from, and how we are related to other creatures

Answer 0

Genes

Question 1

Science that deals with heredity and variation in organisms, including the genetic features and constitution

Answer 1

Genetics

Question 2

Gene responsible for the gift of gab/language

Answer 2

FOXP2 at chromosome 2

Question 3

Full set of chromosomes in a person’s cells

Answer 3

Karyotype

Question 4

31 billion base pairs; 22,000-25,000 genes; 1M book pages or 23 sets of encyclopedia brittanica

Answer 4

Human genome

Question 5

90% of genes

Answer 5

Junk DNA

Question 6

2% coding for proteins

Answer 6

Life functions

Question 7

General study of all the many different genes that determine drug behavior

Answer 7

Pharmacogenomics

Question 8

Factors for disease status

Answer 8

Genetic risk factors, genetic protective factors, environmental risk factors, environmental protective factors

Question 9

View that genes (genotypes) cause traits (phenotypes) and can no longer be altered

Answer 9

Genetic Determinism

Question 10

Your genes dictate who you are

Answer 10

Genetic Determinism

Question 11

Study of the chemical reactions and the factors that triggers the activation/deactivation of parts of the genome at strategic times and locations

Answer 11

Epigenetics

Question 12

Believes that DNA is not your destiny

Answer 12

Epigenetics

Question 13

Affected by factors such as development in utero, environmental, chemicals, drugs/pharmaceuticals, aging, diet

Answer 13

Epigenetic mechanisms

Question 14

Nutriets like folic acid, B vitamins, and SAM-e

Answer 14

DNA Methylation (-CH3 tag)

Question 15

Family history functions

Answer 15

1. Aid in reaching a correct diagnosis
2. Helps in accurate prognosis
3. Presymptotic diagnosis

Question 16

First affected individual in a family who brings genetic disorder

Answer 16

Proband

Question 17

Indicidual presenting for genetic counseling (not necessarily affected)

Answer 17

Consultant

Question 18

Graphic representation of a medical family history of disease using symbols

Answer 18

Pedigree

Question 19

Provides both critical medical data and biological relationship information at a glance

Answer 19

Pedigree

Question 20

Purpose of family pedigree

Answer 20

Diagnosis, testing startegies, pattern of inheritance, at risk family members, calculates risks, determine reproductive options, distinguish genetic from other risk factors, management, rapport, educate, explore patient’s understanding

Question 21

Characteristics of mendelian genetics

Answer 21

Variable expressivity
Clinical or genetic heterogeneity
Sex-influenced or sex-limited gene expression
Assortive mating
Small paternity size
Info on unaffected relatives is as important
Non paternity

Question 22

Tounge rolling, cleft chin, dimples, hitchhiker’s thumb

Answer 22

Dominant trait

Question 23

Ear lobe attachment

Answer 23

Recessive trait

Question 24

AA or Aa affected genotypes

Answer 24

Autosomal dominant

Question 25

Autosomal dominant characteristics

Answer 25

1. 50% chance of being affected 2. Males and females affected equally 3. Male-to-'ale transmission occurs

Question 26

Fibroblast growth factor 3 mutation, skeletal dwarfism, rhizomelic shortening of limbs, increased skin folds

Answer 26

Achindroplasia

Question 27

Fibroblast growth factor 2, prominent eyes, big nose, craniocynotosis, some mentally handicapped

Answer 27

Crouzon Syndrome

Question 28

Hypoplasia, webbed feet, higher incidence of mental handicap

Answer 28

Apert Syndrome

Question 29

Fibrilin 1 gene, tall sature, cardiovascular, skeletal and eye diseases, dilation and dissection of aorta

Answer 29

Marfan Syndrome

Question 30

Affected individuals may be carriers

Answer 30

Autosomal Recessive

Question 31

aa affected genotypes

Answer 31

Autosomal recessive

Question 32

Each offspring has 25% chance of being affected

Answer 32

Autosomal recessive

Question 33

Characteristics of Autosomal Recessive

Answer 33

1. 25% chance of being affected 2. Consanguinity 3. Skips generations 4. Males and females equally

Question 34

One parent carrier autosomal recessive chances

Answer 34

50% chance not affected, carrier | 50% chance not affected, not carrier

Question 35

One parent affected autosomal recessive

Answer 35

100% carriers

Question 36

Both parents carriers autosomal recessive

Answer 36

25% chance affected | 50% chance carrier

Question 37

One parent carrier/one affected autosomal recessive

Answer 37

50% chance affected | 50% chance carrier

Question 38

Keratin gene mutation, ichthyosis, increase in turnover of skin, fish like scales

Answer 38

Harlequin baby, autosomal recessive

Question 39

Enzyme deficiency, normal at birth, onset at 2-3 years, loss of milestone skills, coarsening of facial features, build up of mucuopolysaccharides

Answer 39

Mucopolysaccharidosis Type 1 Hurler

Question 40

Maple-syrup smell of urine, causes encephalopathy, cannot breakdown branched amino acids (V, I, L), accumulation of toxic metabolites, rare disease (tested in newborn screening

Answer 40

Maple Syrup Urine Disease, autosomal recessive

Question 41

Cannot break down galactose, early onset of cataract, liver failure

Answer 41

Galactosemia, autosomal recessive

Question 42

Mutation on the X chromosome, normal at birth but develops weakness of proximal muscles, trips easily, exaggerated lumbarlordosis

Answer 42

Duchenne Musular Dystrophy, X-linked recessive

Question 43

MPS replaces inside of bones, deposition occurs in brain leading to neurologic deterioration

Answer 43

Mucopolysaccharidosis (MPS) II Hunter, X-linked recessive

Question 44

Hemolysis, 1 in 50 prevalence in Philippines but of milder phenotype

Answer 44

Glucose-6-Phosphate Dehydrogenase (G6PD)

Question 45

Genes and environmental factors, Affected population will be only those that have reached threshold

Answer 45

Multifactorial inheritance

Question 46

Factors affecting multifactorial inheritance

Answer 46

1. Closer relationship to proband 2. High heritability of disorder 3. Proband of more rarely affected sex 4. Severe or early onset of disease in proband 5. Multiple affected members

Question 47

Male or female child of affected mother has 50% chance of inheriting mutation, and thus affected

Answer 47

X-linked dominant

Question 48

With affected father, all female children are affected and no male children will be affected

Answer 48

X-linked dominant

Question 49

Normal birth, progressive neurodegeneration, loss of purposefuk use of hands

Answer 49

Rett Syndrome, X-linked dominant

Question 50

Washer woman

Answer 50

Rett Syndrome, X-linked dominant

Question 51

Dosage of folic acid a month prior fertilization

Answer 51

400 microgram per day

Question 52

Earliest time for a pregnancy test

Answer 52

6-8 weeks

Question 53

How long is DNA in the mitochondria

Answer 53

16 kilobases

Question 54

Maternal inheritance with symptoms like stroke, epilepsy, seizures, hearing loss, peripheral neuropathy

Answer 54

Mitochondrial inheritance

Question 55

3 characteristics of mitochondrial inheritance

Answer 55

1. Relatively well-known disease 2. Features that set it apart 3. Involves 3 or more organ systems

Question 56

Genetic disorder with a repeat of 3 nucleotides

Answer 56

Triplet Expansion Disorders

Question 57

Infected mother gives disease to all her children

Answer 57

Maternal inheritance pattern

Question 58

Mixture of mutated and nonmutated mitochondria

Answer 58

Heteroplasmy

Question 59

Either all mutated or all nonmutated mitochondria

Answer 59

Homoplasmy

Question 60

Organ systems usually affected are those that require a lot of ________

Answer 60

ATP

Question 61

Poor generalized tone, mutation on DPMK gene due to repeats

Answer 61

Myotonic Dystrophy

Question 62

Patient with slow removal of hand after a handshake

Answer 62

Myotonic Dystrophy

Question 63

Repeat of CTG disorder

Answer 63

Myotonic Dystrophy

Question 64

Distinct large ears, normal at birth but delay in speech (1st symptom) caused by constriction in one arm of the X chromosome

Answer 64

Fragile X chromosome

Question 65

Disorder with CGG repeat

Answer 65

Fragile X chromosome

Question 66

Huntington Disease

Answer 66

Triplet Expansion Disorder

Question 67

Only 1 copy of gene is expressed

Answer 67

Genomic Imprinting

Question 68

Chromosome 15, father

Answer 68

Prader-willi syndrome

Question 69

Fat (Michelin baby)

Answer 69

Prader, Willi syndrome

Question 70

Nonverbal, happy puppet syndrome, prone to seizures, picket fence teeth

Answer 70

Angelman syndrome

Question 71

Chromosome 15, mother

Answer 71

Angelman syndrome