Lecture 16 Guide

Lecture 16 Guide - 

Chromosomal
Alterations
...

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Chromosomal
Alterations
 I.
Deletions
 
 
A.
Mapping
recessive
mutations
using
deletions 

 II.
Inversions
 
 A.
Position
effect
 
 B.
Pericentric
and
paracentric
 III.
Translocations
 
 A.
Linkage
altered
 IV.
Duplications
 
 A.
Gene
balance
 V.
Changes
in
chromosome
number
 
 A.
Euploid
vs
aneuploid
 
 B.
Human
syndromes
 
 

 
 

 1 
 
 

Chromosomal
Alterations

 Objectives:
 
 Understand
the
concept
of
gene
balance
 
 Understand
the
difference
in
effect
between
rearrangements
that
break
within
a

 gene
versus
between
genes
 
 Understand
euploid
versus
aneuploid
 
 Know
the
effect
of
non‐disjunction
in
meiosis
 
 Be
able
to
do
deletion
mapping
of
recessive
mutations
 2 Vocabulary:
 acentric
 aneuplod
 euploid
 balancer
 deletion
mapping
 dicentric
 Down
syndrome
 gene
balance
 Turner
syndrome
 Klinefelter
syndrome

 gene
dosage
 monosomy
 trisomy
 3 Types of chromosome mutations 4
 Origins of chromosomal rearrangements 5
 Figure
16‐20a
 6
 Deletion loops in Drosophila Figure
16‐20b
 7
 Mapping mutant alleles by pseudodominance Figure
16‐21
 8
 Inversions may cause a variety of structural changes in the DNA Figure
16‐26
 9
 Pericentric inversions can lead to duplication-and-deletion products Figure
16‐29
 10
 Paracentric inversions can lead to deletion products Figure
16‐28
part
2
 11
 A reciprocal translocation demonstrated by chromosome painting Chapter
16
Opener
 12
 The two main chromosome-segregation patterns in a reciprocaltranslocation heterozygote 13
 Down syndrome in the progeny of a translocation heterozygote 14
 Probable origin of the Williams syndrome deletion Figure
16‐23
 15
 Variations on the theme of hemoglobin 16
 17
 Some duplicates of the hemoglobin genes evolved into nonfunctional pseudogenes (ψα and ψβ ) 18
 Detecting rearrangements by their altered hybridization signals Figure
16‐36
 19
 Table
16‐1
 20
 Monoploid plants may be generated by tissue culture 21
 Tetraploid grapes are larger than diploid grapes 22
 Meiotic nondisjunction generates aneuploid products Figure
16‐12
 23
 The maternal-age effect in Down syndrome Figure
16‐17
 24
 The fates of a million implanted human zygotes Figure
16‐37
 25
 Assignment

 Achieve
Objectives
List
(slide
2)
through
study
 and
practice.
 Solve
problems
from
textbook.

 Chapter
16:
 3,
9,
14,
17,
*
26,
27,
30,
35,
45,
51
 26 ...
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