Chapter 15: the chromosomal basis of inheritance Flashcards

1
Q

Define the law of separation

A

The two alleles for each gene will separate

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2
Q

Define the law of independent assortment

A

alleles of genes on nonhomologous chromosomes assort independently

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3
Q

Describe X inactivation in Female mammals

A

one of the X chromosomes is inactive so double proteins are not expressed

Each allele is randomly activated during embryonic development

“Mosaic” or two different phenotypes

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4
Q

Linked genes tend to be inherited together because

A

they are located near each other on the same chromosome

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5
Q

When might Mendel’s law of independent assortment not be true?

A

chromosomal inheritance, where linked genes can be inherited together because they are near each other on the same chromosome

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6
Q

What are recumbent offspring?

A

offspring that do not look like the parents

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7
Q

An inversion will

A

reverse a segment within a chromosome

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8
Q

A translocation will

A

move a segment from one chromosome to a nonhomologous chromosome

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9
Q

A duplication will

A

repeat a segment of DNA

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10
Q

Non disjunction is

A

incorrect distribution of chromosomes across cells

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11
Q

True or false: non disjunction can result in aneuploidy of sex chromosomes

A

True
note aneuploidy is an incorrect number of sex chromosomes present

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12
Q

TorF: Certain cancers are the result of translocation

A

true

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13
Q

What is genomic imprinting

A

the silencing of certain genes depending on which parent passes them on, as two active copies would be detrimental to the offspring

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14
Q

Why do imprinted genes not follow Mendelian pattern of inheritance?

A

Because imprinting causes offspring to differentiate between maternal and paternal alleles

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15
Q

Imprinting is the result of

A

methylation

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16
Q

Why are extranuclear genes inherited maternally?

A

the zygote’s cytoplasm comes from the egg

17
Q

How can defects in mitochondrial genes affect the cell?

A

affects ATP production which can lead to diseases that impact the muscles and nervous system

18
Q

15.1.2 Which one of Mendel’s laws describes the inheritance of
alleles for a single character? Which law relates to the inher-
itance of alleles for two characters in a dihybrid cross?

A

The law of segregation describes the inheritance of alleles for a
single character. The law of independent assortment of alleles describes the
inheritance of alleles for two characters.

19
Q

15.2.2 Neither Tim nor Shonda has Duchenne muscular dystrophy,
but their firstborn son does. What is the probability that a
second child will have the disease? What is the probability if
the second child is a boy? A girl?

A

1
⁄4 (1
⁄2 chance that the child will
inherit a Y chromosome from the father and be male * 1
⁄2 chance that he will
inherit the X carrying the disease allele from his mother). If the child is a boy,
there is a 1
⁄2 chance he will have the disease; a female would have zero chance
(but 1
⁄2 chance of being a carrier)

20
Q

15.2.3 Consider what you learned about
dominant and recessive alleles in Concept 14.1. If a disorder were
caused by a dominant X-linked allele, how would the inheritance
pattern differ from what we see for recessive X-linked disorders?

A

In a disorder caused by a dominant allele,
there is no such thing as a “carrier,” since those with the allele have the disorder.
Because the allele is dominant, the females lose any “advantage” in having two
X chromosomes, since one disorder-associated allele is sufficient to result in the
disorder. All fathers who have the dominant allele will pass it along to all their
daughters, who will also have the disorder. A mother who has the allele (and thus
the disorder) will pass it to half of her sons and half of her daughters.

21
Q

15.3.1 When two genes are located on the same chromosome,
what is the physical basis for the production of recombinant
offspring in a testcross between a dihybrid parent and a
double-mutant (recessive) parent?

A

Crossing over during meiosis I in the heterozygous parent produces some
gametes with recombinant genotypes for the two genes. Offspring with a recom-
binant phenotype arise from fertilization of the recombinant gametes by homo-
zygous recessive gametes from the double-mutant parent.

22
Q

15.3.3 Genes A, B, and C are located on the same chromosome. Testcrosses show that the recombination frequency
between A and B is 28% and that between A and C is 12%.
Can you determine the linear order of these genes? Explain.

A

No. The order could be A-C-B or
C-A-B. To determine which possibility is correct, you need to know the recombi-
nation frequency between B and C.

23
Q

15.4.1 About 5% of individuals with Down syndrome have a chro-
mosomal translocation in which a third copy of chromo-
some 21 is attached to chromosome 14. If this translocation
occurred in a parent’s gonad, how could it lead to Down
syndrome in a child?

A

In meiosis, a combined 14-21 chromosome will behave as one chromosome. If a
gamete receives the combined 14-21 chromosome and a normal copy of chromo-
some 21, trisomy 21 will result when this gamete combines with a normal gamete
(with its own chromosome 21) during fertilization.

24
Q

15.4.2 The ABO blood type locus has been mapped on chromosome 9. A father who has type AB blood
and a mother who has type O blood have a child with tri-
somy 9 and type A blood. Using this information, can you
tell in which parent the nondisjunction occurred? Explain
your answer.

A

No. The child can be either
IA
IA
i or IA
ii. A sperm of genotype IA
IA could result from nondisjunction in the
father during meiosis II, while an egg with the genotype ii could result from non-
disjunction in the mother during either meiosis I or meiosis II.

25
Q

15.4.3 The gene that is activated on the
Philadelphia chromosome codes for an intracellular tyro-
sine kinase. Review the discussion of cell cycle control in
Concept 12.3, and explain how the activation of this gene
could contribute to the development of cancer.

A

Activation of
this gene could lead to the production of too much of this kinase. If the kinase is
involved in a signaling pathway that triggers cell division, too much of it could trigger unrestricted cell division, which in turn could contribute to the development
of a cancer (in this case, a cancer of one type of white blood cell).

26
Q

15.5.1 Gene dosage—the number of copies of a gene that are
actively being expressed—is important to proper develop-
ment. Identify and describe two processes that establish the
proper dosage of certain genes.

A

Inactivation of an X chromosome in females and genomic imprinting.
Because of X inactivation, the effective dose of genes on the X chromosome
is the same in males and females. As a result of genomic imprinting, only
one allele of certain genes is phenotypically expressed.

27
Q

15.5.3 Mitochondrial genes are critical to the energy
metabolism of cells, but mitochondrial disorders caused by
mutations in these genes are generally not lethal. Why not?

A

Each cell contains numerous mitochondria, and in affected
individuals, most cells contain a variable mixture of normal and mutant mito-
chondria. The normal mitochondria carry out enough cellular respiration for
survival. (The situation is similar for chloroplasts.)