Mendelian Inheritance III Flashcards

1
Q

Phenotype

A

overall genotype and unique environmental history
Ex: hydrangeas are pink in basic soil and blue in acidic soil

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2
Q

Norm of reaction

A

the way in which the environmental distribution is transformed into the phenotypic distribution for a given phenotype

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3
Q

Is it possible to predict the phenotypes of different genotypes in new environments?

A

No because norm of reaction curves of different genotypes in new environments

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4
Q

Pedigree

A

a family tree that describes the interrelationships of parents and children across generations

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5
Q

Rare autosomal dominants

A

-Every affected person has an affected parent
-About 1/2 of offspring of an affected parent are also affected
-Usually occurs in both sexes

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6
Q

Rare autosomal recessives

A

-Affected people usually have two parents who are not affected
-In affected families, about 1/4 of children of unaffected parents are affected
-Usually occurs in both sexes

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7
Q

Dominantly Inherited Disorders

A

-homozygous or heterzygous
-Ex: achondroplasia, Huntington’s Disease

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8
Q

Achondroplasia

A

-dominantly inherited disorder
-a form of dwarfism
-homozygosity is lethal

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9
Q

Recessively Inherited Disorders

A

-ONLY homozygous
-Ex: albinism, CF, hemochromatosis, phenylketonuria, spinal muscular atrophy

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10
Q

Sickle Cell Disease

A

-caused by a substitution of a single amino acid in the hemoglobin protein in RBCs
-affects 1/400 African Americans
-reduction against malaria symptoms

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11
Q

Symptoms of Sickle Cell Disease

A

physical weakness, pain, organ damage, and even paralysis

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12
Q

Sickle Cell Disease alleles

A

-2 sickle-cell alleles: ONLY sickled RBCs
-1 sickle-cell and 1 normal allele: Sickled and normal RBCs (carrier)

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13
Q

Carrier

A

heterozygous individuals who carry the recessive allele for a disorder but are phenotypically normal

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14
Q

Why are recessively inherited disorders more common than dominantly inherited?

A

Because carriers of recessively inherited disorders are phenotypically normal

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15
Q

Why do inherited disorders show variable frequency in different human populations?

A

Because historical geographic isolation of different human populations

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16
Q

Theodor Boveri (1885)

A

First to propose that chromosomes are the physical basis of inheritance

17
Q

Chromosomal Theory of Heredity

A

Mendel’s hereditary factors (genes) have specific loci (positions) on chromosomes, and it is chromosomes that undergo segregation and independent assortment

18
Q

Thomas Hunt Morgan’s Chromosome Experiment

A

-First solid evidence associating a specific gene w/ a specific chromosome
-Used fruit flies to provide evidence that chromosomes are the location of Mendel’s heritable factors

19
Q

Why did Thomas Hunt Morgan use fruit flies for his experiment?

A
  1. They breed at a high rate (a generation can be bred every 2 weeks)
  2. They only have 4 pairs of chromosomes
20
Q

Wild type phenotype

A

normal phenotypes that are common in populations

21
Q

Mutant phenotype

A

traits alternative to the wild type

22
Q

Results of Thomas Hunt Morgan’s experiment

A

-Mated male flies w/ white eyes (mutant) w/ female flies w/ red eyes (wild type)
-F1 generation: ALL red eyes
-F2 generation: 3:1 red:white eye ratio, but ONLY MALES had white eyes
-White-eye mutant allele must be located on X chromosome

23
Q

sex-linked gene

A

a gene located on either sex chromosome, follow specific patterns of inheritance

24
Q

Recessive X-linked

A
  1. Female needs 2 copies of allele (homozygous)
  2. Male needs only one copy of allele (hemizygous)
    -More common in males (only one X chromosome)
    -Ex: color blindness, Duchenne muscular dystrophy, hemophilia
25
Q

Diversity of Sex Determination Systems

A

Z-W system: 76 + ZW/SS
X-0 system: 22 + XX/X
Haplo-diploid system: 32 and 16