Mendelian Inheritance Flashcards

1
Q

what is the p arm on a chromosome

A

petite arm

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2
Q

what is the q arm on a chromosome

A

long arm

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3
Q

mendelian inheritance

A

states individuals possess two alleles and a parent passes only one allele to his/her offspring. Mendel’s Law of Independent Assortment states the inheritance of one pair of factors ( genes ) is independent of the inheritance of the other pair.focuses on single gene disorders

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4
Q

disease associated mutations

A

alter protein functiondifference between functional and non-functional is what causes the disease

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5
Q

sickle cell disease

A
  • Abnormal Hb gene - single base change - Sickle cell disorders are inherited. The screening process for SCD also identifies carriers of some haemoglobin variants.- Leads to: ○ Pain; cold, dehydration, infection; jaundice, stroke, leg ulcers, eyes, kidneys; anaesthetic issues- African, Mediterranean, middle-East, Indian - provides immunity to malaria - sickle cell disorders cause red blood cells to become sickle-shaped, and that this can cause pain, tissue damage, infection and even death. The sickle blood cells block the blood vessels. Early treatment by 2 months of age can improve the health of babies with SCD and prevent deaths.
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6
Q

carriers

A

carry the gene for the functional protein and the non-functional protein

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7
Q

affected

A

carry two genes for the non-functional protein

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8
Q

cystic fibrosis

A
  • Caused by a single gene - >3000 mutations- One is particularly common: NW to SE gradient across europe, 1/25 in UK carrier, 1/2500 affected- build up of thick sticky mucus in the lungs and digestive system - autosomal recessive
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9
Q

achondroplasia

A

short limbed dwarfism (proximal limb shortening)- Dominant inheritance - having the abnormal protein causes disease (non-functional or missing protein or protein hat has gain of function)- Each child has a 50% chance of inheriting the mutation - No skipped generations - Chance doesn’t change with each pregnancy - Equally transmitted by men and women - Male to male transmission - not X linked

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10
Q

if neither the mum or the dad have achondroplasia, what is the chance of the child being born with the condition

A

There is a very low chance of this child being born with achondroplasia as neither the mum or the dad have it (however not truly 0 as dominant disorders can be a result or a random genetic mutation - neither of the parents have the condition but the child is born with it)

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11
Q

huntington’s disease

A
  • Autosomal dominant - Neuro-degenerative, late onset (middle age years are typical), if they have reached 60y/o or above and have shown no features they are unlikely to develop it If one parent has the condition, the risk to the child is 1/2
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12
Q

Duchenne muscular dystrophy

A
  • X linked - Fatal in early adult lifeCarrier testing, prenatal diagnosis, pre-implantation diagnosis
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13
Q

x linked inheritance

A
  • Only males affected characteristically - Can skip generations - Unaffected women and affected men can transmit the condition No male to male transmission i.e. a man with an X linked condition cannot pass the condition to his son
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