R
Cause of genetic disease? - ANS a change in the sequence or cellular content of
E
DNA that ultimately deranges gene expression, deletion of a group of genes or an
H
abnormal number of chromosomes
IG
Compare monosomies and trisomes - ANS monosomies cause more severe
physical defects than do trisomies, illustrating the principle that the loss of chromosome
H
material has more severe consequences than the duplication of chromosome material.
NG
How are cells specialized? - ANS through the process of differentiation or
I
maturation
Y
How can deprivation of essential nutrients (proteins, carbohydrates, lipids, and vitamins)
L
lead to cell injury? - ANS by altering cellular structure and function, particularly of
F
transport mechanisms, chromosomes, the nucleus, and DNA
How common are chromosome abnormalities? - ANS 1 in 150 live births, leading
cause of mental retardation and miscarriage
, 2
How do cells communicate? - ANS (1) they form protein channels (gap junctions);
(2) they display receptors that affect intracellular processes or other cells in direct
physical contact; and (3) they use receptor proteins inside the target cell.
R
How does DNA replicate? - ANS DNA molecule unwinds and each strand is a
E
template for complementary base pairing; each daughter helix contains an intact strand
H
from the parent helix and a newly synthesized strand therefore DNA replication is
semiconservative
IG
How does Fragile X present? - ANS small joint hyperextensibility, mild hypotonia,
H
and a family history of intellectual disability in maternally related males
G
How is endocytosis done? - ANS when the substance to be transported is
N
engulfed by a segment of the plasma membrane, forming a vesicle that moves into the
I
cell.
LY
How is intercellular signaling done? - ANS contact-dependent, paracrine,
F
hormonal, neurohormonal, and neurotransmitter.
Importance of proteins in disease - ANS The major workhorses of the cell, if
misfolded they can cause diseases
, 3
Most genetic disorders affect all cells why? - ANS it is inherited from a mutant egg
or sperm
Prediction of disease - ANS A marker locus, when closely linked to a
R
disease-gene locus, can be used to predict whether an individual will develop a genetic
E
disease.
H
Recurrence risk for autosomal dominant diseases - ANS 50%
IG
Recurrence risk for autosomal recessive diseases - ANS 25%
GH
What are alleles? - ANS different versions of the same gene
N
What are diploid somatic cells? - ANS Body Cells
YI
What are free radicals? - ANS unstable oxygen-containing molecules that can
L
damage the cells of the body and possibly contribute to the increased risk of chronic
F
diseases
What are haploid gametes? - ANS sperm and egg cells
What are lysosomes and what do they do? - ANS saclike structures that originate
from the Golgi complex and contain digestive enzymes. These enzymes are responsible
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