Pedigrees

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Week 3: Wednesday, September 10th: Simpson’s Pedigree Analysis

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21 Terms

1
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genetic representation of a family tree that preducts a ‘mode of inheritance’ of a trait/disease through generations is a _______

pedigree

2
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the first noted member with a disease is known as the propositus (male)/proposita (female). they’re also called the _______, and represent the 1st time someone is analysing the condition

proband

3
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<p>identify the keys in the pedigree </p>

identify the keys in the pedigree

knowt flashcard image
4
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_______ is when many genes influence one trait, where as _______ is when one gene affects several traits

polygenic, pleiotropic

5
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in Mendelian genetics, this type of disorder return a 3:1 phenotype; 75% will be affected

dominant monogenic

6
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in Mendelian genetics, this type of diroder returns a 3:1 phenotype; 25% will be affected

recessive monogenetic

7
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_______ are non-reproductive, where as _______ are X/Y in humans

autosomal chromosomes, sex chromosomes

8
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_______ are always expressed in males whether the conditon is dominant (X1Y) or recessive (XiY)

X-lined diseases

9
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true or false: if the female has a recessive allele on one X chromosome she’s not a carrier

false. if the female has a recessive allele on one X chromosome she is a carrier

10
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_______ are only passed on by dads to their sons

Y-lined diseases

11
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_______ are paseed on by mom to kids, but only the son’s cant transmit it

mitochondrial diseases

12
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X and Y chromosome pairing only occurs at the _______

psuedoautosomal region

13
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anucleated bood lacks MHC antigens and only has _______

ABO antigen system

14
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ABO is found mostly on _______

erythrocytes

15
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antibody generating particles are _______

antigens

16
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17
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H antigen platform is modified to make _______ with a differnet enzyme and _______, which is an LOF because it has no enzyme

A or B, O

18
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those who can’t produce H antigen are _______ (hh)

Bombay phenotypes

19
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true or false: H antigen is epistatic to ABO; it overrides it and you can’t form ABO without an H platform to anchor it to

true

20
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Rh+ means the person has _______

at least 1 allele

21
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Rh- means the person has _______ of Rh non-D

two alleles