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A&P 2 > Genes & Human Development > Flashcards

Genes & Human Development Flashcards

1
Q

Segments of DNA that contain the “recipe” or blueprints for synthesis of proteins

A

Genes

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2
Q

Gene ____ can be controlled by other genes

A

Expression

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3
Q

Study of mechanism of heredity

A

Genetics

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4
Q

Principles of genetics were proposed in mid-____s by ____, who studied inherited characteristics that were either all or none

A

mid-1800s; Mendel

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5
Q

The _______ Project” has determined human DNA sequence, which can aid in genetic research and genetic screening

A

“Human Genome Project”

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6
Q

How many chromosomes are in diploid?

A

46 chromosomes

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7
Q

What is present in 23 pairs of homologous chromosomes?

A
  1. 1 pair of sex chromosomes that determine genetic sex

2. 22 pairs of autosomes that guide expression of most other traits

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8
Q

Diploid number (46) of chromosomes are found in all cells except for _____

A

gametes

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9
Q

What do sex chromosomes do?

A

Determine genetic sex

XX=female, XY=male

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10
Q

What do autosomes do?

A

Guide expression of most other traits

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11
Q

Diploid chromosomal complement displayed in homologous pairs

A

Karotype

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12
Q

Genetic (DNA) make up; contains two sets of genetic instructions (maternal and paternal)

A

Genome

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13
Q

Genes that occur at same locus (location) on homologous chromosomes

A

gene pairs (alleles)

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14
Q

Two types of DNA sequences that can be the same or different

A
  1. Homozygous alleles

2. Heterozygous alleles

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15
Q

Alleles are same for sing trait (DNA sequence is same on both homologous chromosomes)

A

Homozygous

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16
Q

Alleles are different for single trait (DNA sequence is different on one homologous chromosome than other)

A

Heterozygous

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17
Q

One allele masks (suppresses) expression of its recessive partner

A

Dominance

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18
Q

Dominant allele is denoted by ____ letter, and recessive by same letter but in ____

A

Capital; lowercase

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19
Q

_____ trait is expressed even if the other allele codes for _____ trait

A

Dominant; recessive

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20
Q

____ trait is expressed only if both alleles are _____

A

Recessive; recessive

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21
Q

B=brown eyes, b=blue eyes
BB or Bb will result in ______ eyes
____ eyes will only occur if person has bb

A

brown; blue

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22
Q

Genetic makeup of a person for a trait

A

Genotype

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23
Q

What are the 3 possible genotypes?

A

BB, Bb, or bb

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24
Q

Physical expression of genotype

A

phenotype

25
Q

Person with genotypes BB or Bb will have ____ eyes because ___ is dominant

A

brown eyes; B

26
Q

Heterozygous person with Bb has genotype for ____ eyes, but will phenotypically have ____ eyes

A

blue; brown

27
Q

Each person is genetically unique as a result of 3 separate events, which are:

A
  1. independent assortment
  2. crossover
  3. random fertilization
28
Q

Two independent separations of traits occur in meiosis I or gametogenesis:

A
  1. Segregation

2. Independent assortment

29
Q

Two alleles of one particular trait will be separated by and distinguished to two different daughter cells

A

Segregation

30
Q

What can errors in segregation lead to?

A

Cancer, infertility, and Down syndrome

31
Q

Example of segregation for Bb

A

allele B will go into one daughter cell and allele b will go into the other daughter cell

32
Q

Alleles of two different traits on two different chromosomes are distributed independently of each other

A

Independent assortment

33
Q

Example of independent assortment for Bb for hair color on one chromosome, and Jj on other chromosome for double jointed thumb

A

BJ, Bj, bJ, and bj - whether you inherit B or b is independent of whether you inherit J or j

34
Q

Independent assortment can be calculated by and can result in:

A

8.5 million combinations

35
Q

Gene therapy could ____ or ____ disorders

A

alleviate or cure

36
Q

How does genetic engineering have potential to replace defective gene?

A

Defective cells are infected with genetically engineered virus containing functional gene; injects “corrected” gene directly into cell

37
Q

What are the disadvantages of human gene therapy?

A
  1. Prohibitively expensive

2. Controversial with many ethical, religious, and societal questions

38
Q

When is fetal testing used?

A

Only when there is a known risk of genetic disorder

39
Q

Why is fetal testing used only when there is a known risk of genetic disorder?

A

Because testing is invasive and risky for mother/fetus

40
Q

Amniotic fluid is withdrawn after week 14 and fluid/cells are examined for genetic abnormalities; testing takes several week

A

Amniocentesis

41
Q

Chorionic villi sampled at 8-10 weeks and karotyped for genetic abnormalities; can be done earlier than amniocentesis

A

Chorionic villus sampling (CVS)

42
Q

What are the two major ways to identify carriers of detrimental genes?

A
  1. Pedigrees

2. Blood tests

43
Q

Traces a genetic trait through several generations to predict future risks

A

Pedigree

44
Q

How do pedigrees predict future risks?

A
  1. Genetic counselor collects phenotype information on as many family members as possible to construct the pedigree (family tree)
  2. Genetic counselor can work backward, applying rules of dominant-recessive traits to deduce genotypes of parents and others
45
Q

Simple blood tests are used to screen for ______ genes in heterozygotes

A

Sickling gene

46
Q

Sophisticated blood chemistry tests & DNA probes can detect presence of _______

A

other unexpressed recessive genes

47
Q

Sophisticated blood chemistry tests and DNA probes can test for carriers of disorders such as ______ and _____ genes

A

Tay-Sachs and cystic fibrosis

48
Q

Genes on same chromosomes are _____ and can be passed to daughter cells as one unit

A

linked

49
Q

During ____ (or _____), homologous chromosomes can break, even between linked genes, and a precise exchange of gene segments can result in _____ chromosomes

A

crossover, or chiasma; recombinant chromosomes

50
Q

___ and gene ____ can result in tremendous variability d/t chromosomes becoming a mixture of contributions from each parent

A

crossover and gene recombination

51
Q

What is random fertilization?

A

A single egg is fertilized by a single sperm in a random manner

52
Q

Independent assortment and random fertilization results in _____ zygote possibilities

A

Egg possibilities x sperm possibilities
=8.5 million x 8.5 million
=~72 trillion

53
Q

few ____ can be traced to a single gene

A

phenotypes

54
Q

Most traits are determined by _____ alleles or by interaction of several gene pairs

A

multiple alleles

55
Q

____ involves an interaction between dominant and recessive alleles

A

inheritance

56
Q

Diagram used to predict possible gene combinations resulting from mating of parents of known genotypes

A

Punnett square

57
Q

T=tongue roller (dominant)
t=non-tongue roller (recessive)
TT and tt = ______zygous
Tt = ______zygous

A

homozygous; heterozygous

58
Q

What is the probability of genotypes from mating 2 heterozygous parents for tongue rolling trait?

A

25% TT tongue-roller
50% Tt tongue-roller
25% Tt non-tongue roller

A&P 2 (4 decks)

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