part 2 11 The genome of a critically ill infant in the neonatal intensive care unit at RadyChildren's Hospital was sequenced as part of the California Baby Bear project.Which of the following variants identified (relative to a reference humangenome) is most likely to be the cause of this child's medical problem?A non-synonymous substitution that is homozygous in the child as well as in hishealthy siblingA non-synonymous substitution that is homozygous in the child but not in his parentsor other relatives, and causes an amino acid change that is predicted to be damaging toprotein functionA synonymous substitution that is heterozygous in the childA variant that is heterozygous in the child and present at a frequency of 1% in thegeneral population

Answered: The genome of a critically ill infant…

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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part 2 11

The genome of a critically ill infant in the neonatal intensive care unit at Rady
Children's Hospital was sequenced as part of the California Baby Bear project.
Which of the following variants identified (relative to a reference human
genome) is most likely to be the cause of this child's medical problem?
A non-synonymous substitution that is homozygous in the child as well as in his
healthy sibling
A non-synonymous substitution that is homozygous in the child but not in his parents
or other relatives, and causes an amino acid change that is predicted to be damaging to
protein function
A synonymous substitution that is heterozygous in the child
A variant that is heterozygous in the child and present at a frequency of 1% in the
general population

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The most likely variant to be the cause of the child's medical problem is a non-synonymous substitution that is homozygous in the child but not in his parents or other relatives, and causes an amino acid change that is predicted to be damaging to protein function.

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