Mendelian Patterns

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  • Created by: ppogba
  • Created on: 20-08-19 19:57
Name the 2 Mendelian pattern types caused by a gene on chromosomes 1-22?
Autosomal Dominant and Autosomal Recessive?
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What are the other 3 that are caused by genes on the sex chromosomes?
X-linked recessive. X-linked dominant. Y-linked.
2 of 19
If a disease is recessive, where will an affected person have got it from?
will have inherited the disease from both parents
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Characteristics of Autosomal Dominant disease.
Both sexes affected. Affected person will usually have at least 1 affected parent.
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With Autosomal dominant diseases, what will be the result if an unaffected individual mates with a heterozygous person?
child will have 50% chance of having disease. (8 out of 14 with an affected parent will have disease- on a pedigree)
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Give examples of Autosomal Dominant diseases?
Achondroplasia (form of dwarfism). Polydactyl (extra fingers/toes). hairy mid-digit. Widows peak. Mendel's peas
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Characteristics of Autosomal recessive diseases.
Affects either sex. Affecteds usually have unaffected parents. Parents often carriers. Inbreeding a big cause.
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With ARD, what would be the result of 2 carriers (heterozygous) mating?
Their offspring would have 1in4 chance of having disease; 1in2 chance of being carriers.
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Give examples of ARD?
Albinism, sickle cell anaemia, cystic fibrosis, attached ear lobes.
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People affected with cystic fibrosis have 2 inactive copies of what? What does this gene do?
CFTR- cystic fibrosis transmembrane conductance regulator. it helps form chloride channels in cell membranes.
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Characteristics of X-linked recessive disorders?
Affects mainly males (they can't be carriers without being affected). Affected males usually born to parents with no symptoms (female often has affected male relatives).
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How would a female be affected with a X-linked recessive order?
Father affected and mother carrier.
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What are chances of male offspring have disorder with carrier female?
0.5 chance of being affected.
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Give examples of x-linked recessive disorders?
Duchene Muscular dystrophy. Red-green colour blindness. Haemophilia.
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Characteristics of x-linked dominant disorders.
Affects either sex. Child of an affected female has a 50% chance of being affected.
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All female children of affected males are affected. No male children of affected males are affected. Why is this?
because males aren't passing on an X chromosome to male offspring.
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Give examples of X-linked dominant disorders?
Not many. Hypopthosphatemia- form of vitamin D resistant rickets.
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Characteristics of Y-linked disorders?
Affects only males. All sons of affected men are affected.
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Give examples of Y-linked disorders? Why are there so few examples?
Maleness. Hairy ear rims. Less genes found on Y chromosome.
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Other cards in this set

Card 2

Front

What are the other 3 that are caused by genes on the sex chromosomes?

Back

X-linked recessive. X-linked dominant. Y-linked.

Card 3

Front

If a disease is recessive, where will an affected person have got it from?

Back

Preview of the front of card 3

Card 4

Front

Characteristics of Autosomal Dominant disease.

Back

Preview of the front of card 4

Card 5

Front

With Autosomal dominant diseases, what will be the result if an unaffected individual mates with a heterozygous person?

Back

Preview of the front of card 5
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