14 15 Flashcards

0
Q

Any of the alternative versions of a gene that may produce distinguishable phenotypic effects

A

Allele

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1
Q

A discreet unit of hereditary information consisting of a specific nucleotide sequence in DNA

A

Gene

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2
Q

An observable heritable feature that may vary among individuals

A

Character

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3
Q

One of two or more detectable variants in a genetic character

A

Trait

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4
Q

An allele that is fully expressed in the phenotype of a heterozygote

A

Dominant allele

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5
Q

An allele whose phenotypic effect is not observed in a heterozygote

A

Recessive allele

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6
Q

The genetic makeup or set of alleles of an organism

A

Genotype

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7
Q

The observable physical and physiological traits of an organism which are determined by its genetic makeup

A

Phenotype

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8
Q

Having two identical alleles for a given gene

A

Homozygous

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9
Q

Having two different alleles for a given gene

A

Heterozygous

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10
Q

A cross between two organisms that are heterozygous for the character being followed

A

Monohybrid cross

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11
Q

Breeding an organism of unknown genotype with a homozygous recessive individual to determine the unknown genotype. The ratio of phenotypes in the offspring reveals the unknown genotype

A

Test cross

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12
Q

Phenotypes if heterozygote and dominant homozygote are indistinguishable

A

Complete dominance

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13
Q

Phenotypes of heterozygote a is intermediate between the two phenotypes of both homozygotes

A

Incomplete dominance

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14
Q

Two alleles each affect the phenotype in separate distinguishable ways

A

Codominance

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15
Q

Phenotype most commonly observed in the natural population

A

Wild type

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16
Q

A gene located on sex chromosomes; usually occurs on X chromosome; fathers transmit this and other x-linked alleles to all daughters but to no sons. Any male who inherits such an allele from his mother will express the trait

A

Sex-linked gene

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17
Q

Production of offspring with combination of traits that differ from those found in either parent

A

Genetic recombination

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18
Q

Reciprocal exchange of genetic material between no sister chromatids during prophase 1 of meiosis

A

Crossing over

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19
Q

An error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other

A

Nondisjunction

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20
Q
  • Most common lethal genetic disease in US
  • Normal allele for this gene codes for chloride transport channels
  • Allele is recessive
  • if homozygous for this allele then high concentration of extra cellular chloride which causes mucus buildup organs
  • if untreated most die before 5th birthday; in US half with this survive to 20s or 30s
A

Cystic fibrosis

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21
Q
  • most common inherited disorder among people of African descent
  • caused by substitution of a single amino acid in hemoglobin protein
  • person homozygous all rbc are sickle shaped: can cause cells to clump as block blood vessels
  • regular blood transfusion and new drugs can help or prevent other problems it causes, but no cure
  • codominant at molecular level
  • disease: both alleles are sickle cell alleles
  • trait: one allele normal; one sickle cell
  • heterozygous advantage
A

Sickle cell disease

22
Q
  • Degenerative disease of the nervous system
  • irreversible and inevitably fatal
  • lethal dominant allele no obvious phenotypic effect until individual is 35-45 years old
  • Child born to parent with this allele has 50% chance of inheriting the allele and the disorder
  • can do genetic testing to see if an individual has this allele in genome
A

Huntington’s disease

23
Q
  • affects 1/3500 males born in US
  • progressive weakening of the muscles and loss if coordination
  • rarely live past early 20s
  • x-linked disorder
A

Muscular distrophy

24
- x-linked recessive disorder - absence of one or more of proteins required for blood clotting - treat with Iv injections of the protein that is missing
Hemophilia
25
- usually result if extra chromosome 21- each body cell has total of 47 chromosomes - also called trisomy 21 - characteristic facial features, short stature, developmental delays - increased chance if developing many diseases - have life span shorter than normal - frequency increases with age of the mother - most cases result from nondisjunction during meiosis 1
Down's syndrome
26
- XXY - males- testes small and man is sterile - some breast enlargement and other female body characteristics are common - may have subnormal intelligence
Klinefelter syndrome
27
- males- undergo normal sexual development | - tend to be somewhat taller than average
XYY
28
- females; unhealthy - no unusual physical features other than being slightly taller than average - at risk for learning disabilities - fertile
Trisomy X (XXX)
29
- monosomy x (xo) - only known viable monosomy in humans - female; sterile because Sex organs do not mature - when provided with estrogen replacement therapy, do develop secondary sex characteristic - most have normal intelligence
Turner syndrome
30
- results from specific deletion in chromosome 5 - severely intellectually disabled - small head with unusual facial features - cry that sounds like mewing of a distressed cat - usually die in infancy or early childhood
"Cri du chat" cry of the cat
31
- occurs when reciprocal translocation happens during mitosis of cells that will become WBC - exchange of a large portion of chr 22 with small fragment from a tip of chr 9 produces a much shortened chr 22 - causes cancer by activating a gene that leads to uncontrolled cell cycle progression
CML chronic myelogenous leukemia
32
The inactive X in each cell of a female condenses into a compact object called a _____. Most of these genes are not expressed. Females are a mosaic of two types of cells: those with the active X derived from the father and those with the active X derived from the mother
Barr body
33
Genes located on the same chromosome that tend to be inherited together in genetic crosses are said to be _____ genes
Linked
34
Offspring that inherit a phenotype that is different from either parent are said to be ____
Recombinants
35
The reason that linked genes are inherited together is that
They are located on the same chromosome
36
What is the mechanism for the production of genetic Recombinants
Crossing over and independent assortment
37
Males are more often affected by sex linked traits than females because
Males are hemizygous for the X chromosome
38
A man who carries an x linked allele will pass it on to
All of his daughters
39
Which syndrome afflicts mostly males
Duchenne muscular dystrophy
40
If a chromosome lacks certain genes, what has most likely occurred?
Deletion
41
The human trisomy that generally has the most severe impact on the health of the individual is
Trisomy 21
42
What do all human males inherit from their mother?
An X chromosome and mitochondrial DNA
43
False about Down syndrome
It is a sex linked disorder
44
Not true of turners syndrome
They are genetically XXX
45
What results in male sex organs but may have some female body characteristics present?
XXY
46
Not sex linked disorder
Sickle cell anemia
47
What kind of chemical bond is found between paired bases of the DNA double helix
Hydrogen
48
An analysis of the nucleotide composition of DNA
A+C=G+T and G+A=T+C
49
The strands that make up DNA are anti parallel this means:
The 5 to 3 direction of one strand runs counter to the 5 to 3 direction of the other strand
50
What is the function of DNA polymerase
To add nucleotides to the end of a growing DNA strand
51
A cross between homozygous purple flowered and homozygous white flowered pea plants results in offspring with purple flowers. This demonstrates
Dominance
52
Can be dominant or recessive, can represent alternative forms of a gene, can be identical or different for any given gene in a somatic cell
True for alleles
53
The offspring of a cross between two heterozygous purple flowering plants results in
Purple flowered plants and white flowered plants