ch 14 - forms of inheritance Flashcards

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1
Q

mutation def

A

any change in the DNA

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2
Q

autosomal dominant def

A

only takes 1 copy to have the trait

ex: huntingtons, hypercholesterolemia, breast cancer

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3
Q

autosomal recessive def

A

need 2 copies of allele to express trait

ex: CF, CKU, taysachs, albinism

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4
Q

x-linked dominant def

A

all daughters of affected male will have trait, all sons of a homozygous affected female will have trait

ex: fragile X

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5
Q

x-linked recessive def

A

all sons of affected female and 1/2 sons of a carrier female will express the trait; all daughters of affected male will be carriers

ex: hemophilia, color blindness, DMD

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6
Q

do mitochondria have double-stranded DNA? what is it called?

A

yes; mtDNA

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7
Q

mitochondrial trait def

A

passes only from the mother because the sperm’s mitochondria is in the tail which disintegrates during fertilization

affected female passes to all children, affected males do not to any
ex: mitochondrial myopathy

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8
Q

mtDNA (maternal inheritance) def

A

mother gives trait to all children, males won’t pass it on

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9
Q

to determine pattern of inheritance in pedigree for sex-linked trait

A

if there are way more males than females affected

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10
Q

if child is different from both parents-

A

label child homozygous recessive and parents heterozygous

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11
Q

if child is shaded and parents are not-

A

pedigree is tracing autosomal recessive trait

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12
Q

if parents are shaded and child is not-

A

pedigree is tracing autosomal dominant trait

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13
Q

genetic anticipation def

A

onset of symptoms and severity increases with successive generations. due to genes where the number of triplets increase when passed to child (trinucleotide repeats)

ex: huntington’s disease, fragile X, myotonic dystrophy

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14
Q

in genetic anticipation, the more repeats-

A

the earlier the onset and the more severe the disease

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15
Q

which trinucleotide repeats in huntington’s?

A

CAG

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16
Q

which trinucleotide repeats in fragile X?

A

CGG

17
Q

which trinucleotide repeats in myotonic dystrophy?

A

CTG

18
Q

what are 2 main types of mutations?

A

gene mutations and chromosome mutations

19
Q

gene mutation def

A

happens during DNA replication, due to point mutations or frameshift from an insertion or deletion affecting all the codons that come after the error

ex: cystic fibrosis, dwarfism, sickle cell anemia

20
Q

DNA replication def

A

a change to the original DNA sequence

21
Q

point mutations def

A

1 base change

22
Q

chromosome mutation def

A

happen during meiosis, changes the number or location of genes

ex: down syndrome, klinefelters syndrome, turners syndrome

23
Q

chromosomal errors def

A

deflects are due to errors in a large piece of the chromosome

24
Q

deletion def

A

large section of the chromosome is lost

25
Q

duplication def

A

broken piece attaches to the homolog

26
Q

inversion def

A

a broken section reattaches in reverse order (some harmless

27
Q

translocation

A

broken pieces swap positions on different chromosomes can cause trisomies, tumors, miscarriages, philidelphia chromosome (translocation of #9 and #22 leading to leukemia

28
Q

mutations of chromosomes:

A

deletion, duplication and deletion, inversion, reciprocal translation between 2 different chromosomes

29
Q

can some single gene mutations be due to more than one reason?

A

yes

ex: SCIDS

30
Q

nonfunctional protein

A

Nonsense mutations result in a polypeptide chain that is shorter and is non-functional.

31
Q

A nonsense mutation

A

results in the addition of an incorrect amino acid, but can still lead to a functional protein

32
Q

huntingtons disease

A

half the people in a Venezuelan village affected

a large pedigree was conducted of 10,000 people by Nancy Wexler; lead to the identification of the gene at the tip of chromosome 4

33
Q

transposons def

A

jumping genes - segment of RNA that can move from 1 chromosome location to another

ex: corn bacteria retroviruses

34
Q

human genome project def

A

mapped out the genes on the 24 chromosomes to cure sound 4000 diseases by gene therapy- a diagnosis could alter the patients lifestyle for multifactorial traits

ex: hypercholestromia, autosomal dominant diseases

35
Q

Germaine gene therapy risks

A

I/ No consent of future generations

II. Possible fatal flaw

III. Eugenics

36
Q

the only disease gene therapy has cured

A

SCIDS

37
Q

the lac operon gene operon

A

e coli bacteria synthesizes lactase to break down lactose, which is only made in the presence of lactose. if theres no lactose, the gene is repressed. it lives on whatever the host drinks then- so if u drink milk then that’s what it uses