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A&P 2 > Genes & Human Development > Flashcards

Genes & Human Development Flashcards

(58 cards)

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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

25
Person with genotypes BB or Bb will have ____ eyes because ___ is dominant
brown eyes; B
26
Heterozygous person with Bb has genotype for ____ eyes, but will phenotypically have ____ eyes
blue; brown
27
Each person is genetically unique as a result of 3 separate events, which are:
1. independent assortment 2. crossover 3. random fertilization
28
Two independent separations of traits occur in meiosis I or gametogenesis:
1. Segregation | 2. Independent assortment
29
Two alleles of one particular trait will be separated by and distinguished to two different daughter cells
Segregation
30
What can errors in segregation lead to?
Cancer, infertility, and Down syndrome
31
Example of segregation for Bb
allele B will go into one daughter cell and allele b will go into the other daughter cell
32
Alleles of two different traits on two different chromosomes are distributed independently of each other
Independent assortment
33
Example of independent assortment for Bb for hair color on one chromosome, and Jj on other chromosome for double jointed thumb
BJ, Bj, bJ, and bj - whether you inherit B or b is independent of whether you inherit J or j
34
Independent assortment can be calculated by and can result in:
8.5 million combinations
35
Gene therapy could ____ or ____ disorders
alleviate or cure
36
How does genetic engineering have potential to replace defective gene?
Defective cells are infected with genetically engineered virus containing functional gene; injects "corrected" gene directly into cell
37
What are the disadvantages of human gene therapy?
1. Prohibitively expensive | 2. Controversial with many ethical, religious, and societal questions
38
When is fetal testing used?
Only when there is a known risk of genetic disorder
39
Why is fetal testing used only when there is a known risk of genetic disorder?
Because testing is invasive and risky for mother/fetus
40
Amniotic fluid is withdrawn after week 14 and fluid/cells are examined for genetic abnormalities; testing takes several week
Amniocentesis
41
Chorionic villi sampled at 8-10 weeks and karotyped for genetic abnormalities; can be done earlier than amniocentesis
Chorionic villus sampling (CVS)
42
What are the two major ways to identify carriers of detrimental genes?
1. Pedigrees | 2. Blood tests
43
Traces a genetic trait through several generations to predict future risks
Pedigree
44
How do pedigrees predict future risks?
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
Simple blood tests are used to screen for ______ genes in heterozygotes
Sickling gene
46
Sophisticated blood chemistry tests & DNA probes can detect presence of _______
other unexpressed recessive genes
47
Sophisticated blood chemistry tests and DNA probes can test for carriers of disorders such as ______ and _____ genes
Tay-Sachs and cystic fibrosis
48
Genes on same chromosomes are _____ and can be passed to daughter cells as one unit
linked
49
During ____ (or _____), homologous chromosomes can break, even between linked genes, and a precise exchange of gene segments can result in _____ chromosomes
crossover, or chiasma; recombinant chromosomes
50
___ and gene ____ can result in tremendous variability d/t chromosomes becoming a mixture of contributions from each parent
crossover and gene recombination
51
What is random fertilization?
A single egg is fertilized by a single sperm in a random manner
52
Independent assortment and random fertilization results in _____ zygote possibilities
Egg possibilities x sperm possibilities =8.5 million x 8.5 million =~72 trillion
53
few ____ can be traced to a single gene
phenotypes
54
Most traits are determined by _____ alleles or by interaction of several gene pairs
multiple alleles
55
____ involves an interaction between dominant and recessive alleles
inheritance
56
Diagram used to predict possible gene combinations resulting from mating of parents of known genotypes
Punnett square
57
T=tongue roller (dominant) t=non-tongue roller (recessive) TT and tt = ______zygous Tt = ______zygous
homozygous; heterozygous
58
What is the probability of genotypes from mating 2 heterozygous parents for tongue rolling trait?
25% TT tongue-roller 50% Tt tongue-roller 25% Tt non-tongue roller

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