Tracing a disease gene through a family tree II II IV VI VII 1. Now the UDP doctors terial calcification due to as that she was not alone sters, and all of them had arents were unaffected. ne of these children had sted that the underlying ge and all of her siblings e that influences CD73 ather. A person with one both of a person's copies provides. The situation is unctional allele is domi- FIGURE 1-15 Family tree or pedigree showing the inheritance of the mutant gene causing arterial calcification due to deficiency of CD73 (ACDC). Squares are males, and circles are females. Horizontal lines connecting a male and female are matings. Vertical lines connect a mating pair to its offspring. Roman numerals designate generations; Arabic numerals designate individuals within generations. Half-filled squares or circles indicate an individual carrying one copy of the mutant gene. Filled squares or circles indicate an individual with two copies of the mutant gene and who have the ACDC disease. Either individual I-1 or l-2 must have =, only appears if an indi- carried the mutant gene, but which one carried it is uncertain as indicated by the "2". Blue arrow indicates Louise Benge. Red arrows show the path of the mutant gene through the generations. [Data from C. St. Hilaire et al, New England Journal of Medicine 364, 2011, 432-442] nistory and learned that velation fit well with the d and wife are close rela- that they will both have ir common ancestor and Idren Chldren with

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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Figure 1-15 shows the family tree, or pedigree, for Louise
Benge (Individual VI-1) who suffers from the disease
ACDC because she has two mutant copies of the CD73
gene. She has four siblings (VI-2, VI-3, VI-4, and VI-5)
who have this disease for the same reason. Do all of the
10 children of Louise and her siblings have the same
number of mutant copies of the CD73 gene, or might
this number be different for some of the 10 children?

Tracing a disease gene through a family tree
II
II
IV
VI
VII
1. Now the UDP doctors
terial calcification due to
as that she was not alone
sters, and all of them had
arents were unaffected.
ne of these children had
sted that the underlying
ge and all of her siblings
e that influences CD73
ather. A person with one
both of a person's copies
provides. The situation is
unctional allele is domi-
FIGURE 1-15 Family tree or pedigree
showing the inheritance of the mutant
gene causing arterial calcification due to
deficiency of CD73 (ACDC). Squares are
males, and circles are females. Horizontal
lines connecting a male and female are
matings. Vertical lines connect a mating
pair to its offspring. Roman numerals
designate generations; Arabic numerals
designate individuals within generations.
Half-filled squares or circles indicate an
individual carrying one copy of the mutant
gene. Filled squares or circles indicate an
individual with two copies of the mutant
gene and who have the ACDC disease.
Either individual I-1 or l-2 must have
=, only appears if an indi-
carried the mutant gene, but which one
carried it is uncertain as indicated by the
"2". Blue arrow indicates Louise Benge.
Red arrows show the path of the mutant
gene through the generations. [Data from
C. St. Hilaire et al, New England Journal of
Medicine 364, 2011, 432-442]
nistory and learned that
velation fit well with the
d and wife are close rela-
that they will both have
ir common ancestor and
Idren Chldren with

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