pedigree known I-1 I-2 П-1 П-2 П-3 II-4 П-5 П-6 П-7 П-8 II-9 П-10 III-1 III-2 III-3 III-4 III-5 Ш-6 Ш-7 III-8 Ш-9 Ш-10 IШ-11 Ш-12 IV-1 IV-2 IV-3 IV-4 IV-5 IV-6 IV-7

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Chapter2: Where, Why, And What
Section: Chapter Questions
Problem 1M
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The pedigree here shows the inheritance of a human disease known
as familial hypercholesterolemia.                                                                       This disorder is characterized by an elevated level of serum
cholesterol in the blood. Though relatively rare, this genetic
abnormality can be a contributing factor to heart attacks. At the
molecular level, this disease is caused by a defective gene that
encodes a protein called low-density lipoprotein receptor (LDLR).
In the bloodstream, serum cholesterol is bound to a carrier protein
known as low-density lipoprotein (LDL). LDL binds to LDLR,
which enables cells to absorb cholesterol. When LDLR is defective,
it becomes more difficult for the cells to absorb cholesterol. This
explains why the blood level of cholesterol remains high. Based
on the pedigree, what is the most likely pattern of inheritance of
this disorder?

pedigree
known
I-1
I-2
П-1
П-2
П-3
II-4
П-5
П-6
П-7
П-8
II-9
П-10
III-1
III-2
III-3
III-4
III-5
Ш-6
Ш-7
III-8
Ш-9 Ш-10 IШ-11 Ш-12
IV-1
IV-2
IV-3
IV-4
IV-5
IV-6
IV-7
Transcribed Image Text:pedigree known I-1 I-2 П-1 П-2 П-3 II-4 П-5 П-6 П-7 П-8 II-9 П-10 III-1 III-2 III-3 III-4 III-5 Ш-6 Ш-7 III-8 Ш-9 Ш-10 IШ-11 Ш-12 IV-1 IV-2 IV-3 IV-4 IV-5 IV-6 IV-7
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