Mendel and human disorders Flashcards

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1
Q

reasons why genetic disorders are recessive

A
  1. Recessive alleles produce non-
    functional proteins
    Many mutations can produce non-functional
    versions of the same protein. Mutations
    usually result in a loss of function.
  2. Dominant alleles mask the effect of
    recessive alleles.
    Therefore:
    -recessive alleles can be carried by
    individuals and have no effect on their
    phenotype.
    -they are difficult to eliminate from a
    population.
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2
Q

cystic fibrosis
Tay-Sachs disease
Phenylketonuria (PKU)

A

excess mucus production.
lipid accumulation in brain cells
accumulation of phenylalanine (type of amino acid)

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3
Q

Disorders associated with dominant
alleles

A

Every affected person should have a parent with the disorder. Dominant alleles causing disorders are usually very rare in a population.
Or
associated with conditions that occur late in life. (Alzheimer’s disease: Mental deterioration, especially memory. Huntington’s disease: mental deterioration, especially muscle control)

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4
Q

Frequency of alleles
causing disease early in life (common to rare)

A

Dominant/recessive: common
Incomplete dominance: rare
Dominant/recessive: very rare

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5
Q

Independent assortment of alleles (include examples and when it occurs)

A

Pairs of alleles for a gene separate independently of other alleles for other genes during gamete formation.

ex: gametes produced in GgHh
only
occurs when the genes are on different
chromosomes

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6
Q

what is linked genes and why is it important to study

A

Genes found on the same chromosome

Studying linked genes allows us to find the location of genes on chromosomes.

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7
Q

The rate at which gene are separated
depends…

A

on how far apart they are from one another.

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8
Q

if genes are on the same chromosome
(linked), then:

A

the phenotypic combination in the parents will be the most common combination in the offspring

and ratios different

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9
Q

The proportion of recombinants can be
used to…

A

determine how far apart the genes are, and map them onto chromosomes

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10
Q

How do we find the location of genes ?

A

Some chromosomal mutations are associated
with phenotypes, and can be used to map
genes onto chromosomes

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