I-1 I-2 II-1 П-2 П-3 П-4 П-5 II-6 Ш-1 Ш-2 Ш-3 Ш-4 Ш-5 Ш-6 Ш-7 Ш-8 IV-1 IV-2 IV-3 IV-4 IV-5 IV-6

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ISBN:9781305465763
Author:ROMICH
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Hurler syndrome is due to a mutation in a gene that encodes a
protein called α-l-iduronidase. This protein functions within
lysosomes as an enzyme that breaks down mucopolysaccharides
(a type of polysaccharide that has many acidic groups attached).
When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulate
within the lysosomes, especially in liver cells and connective
tissue cells. This accumulation leads to symptoms such as an
enlarged liver and spleen, bone abnormalities, corneal clouding,
heart problems, and severe neurological problems. The pedigree
below contains three members affected with Hurler syndrome,
indicated with black symbols. Based on this pedigree, does this
syndrome appear to follow autosomal recessive, autosomal
dominant, X-linked recessive, or X-linked dominant inheritance?
Explain your reasoning.

I-1
I-2
II-1
П-2
П-3
П-4
П-5
II-6
Ш-1
Ш-2 Ш-3
Ш-4
Ш-5 Ш-6 Ш-7
Ш-8
IV-1
IV-2
IV-3
IV-4
IV-5
IV-6
Transcribed Image Text:I-1 I-2 II-1 П-2 П-3 П-4 П-5 II-6 Ш-1 Ш-2 Ш-3 Ш-4 Ш-5 Ш-6 Ш-7 Ш-8 IV-1 IV-2 IV-3 IV-4 IV-5 IV-6
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