Chapter 12

Mutations

I) Mutations: any change in either a chromosome or part (gene).

A) Can be passed during cell division

B) Some mutations produce no visible effects

C) Some produce drastic effects in the structure or offspring.

II)2 types of mutations

D) Chromosomal: a change in the structure or in the number of

chromosomes. Visible changes.

E) Gene (Point) Mutations: a change in the chemical nature of

the DNA may or may not be visible.

III) Where Mutations Occur

F) Somatic mutations – occur in body cells (mitosis)

1) Not passed to offspring

G) Germ mutation – occur in sex cells only

1) Can be passed to offspring.

IV) Mapping out Chromosomes (Homologs)

H) Called Karyotes

I) Body chromosomes; 1-22 pairs are called autosomes.

V) Chromosome Mutations

J) 2 kinds

1) Changes in the number; too few or too many.

2) Change in the structure.

(a)EX: piece breaks off

K) Causes of chromosome mutations

 1) Non-disjunction: failure of one pair of chromosomes – do
not separate (during mitosis or meiosis in body or sex
cells). Body cell or gametes (sex cells) have the wrong
number of chromosomes.

L) Alteration in structure of chromosome

1) Translocation: the transfer of a chromosome, segment from

one chromosome to another non homologous chromosome.

(a)Homologs do not match.

2) Duplication and Deletion

(a)Duplication: a segment of a chromosome is present more

than once.

(b)Deletion: caused by a loss of a segment of a

chromosome.

3) Inversion

(a)A piece of a chromosome is switched from top to bottom

in the reversed position.

VI)Gene point mutations

M) Affects only a gene

N) Occurs only in one place

O) Error: substitution of one base for another

P) Codes for incorrect amino acid

VII)Frame shift mutation

Q) Affects almost all amino acids in the protein.

VIII)Disorders from non-disjunction

R) One more or less chromosome at a homolog.

S) Trisomy: three chromosomes at a homolog

1) Down’s Syndrome #21

(a)All look alike body structure in eyes, shape of face.

 (b)Various levels of retardation.

(c)Mothers age increases risk of having a child with

Down’s.

2) Klinefelters Syndrome

(a)

T) Monosomy: one chromosome at a homolog.

IX)Disorders from gene point mutations.

U) Albinism: gene mutation – lack of a pigment called melanin;

no pigment in skin, hair, or eyes.

V) Sickle Cell Anemia: affects ability of the red blood cell

to carry oxygen.

1) Affects African ancestry (1 in 350 blacks)

2) The person Red Blood cell is deformed and is sickle

shaped.

3) Double recessive – mutated gene comes from both parents.

Carrier has no symptoms.

W) Hemophilia: located on sex chromosomes and is sex linked.

1) Recessive gene and involves the failure of the blood to

clot normally.

X) Phenylketonuria (PKU)

1) *Inability of a mutant gene to code for an enzyme to

change Phenylaline to Tyrasine.

*
(a) Too much Phenylaline build up in the blood and
brain.

(b)Wastes and products build up in the brean and cause

mental retardation.

(c)Can be diagnosed by a blood test

 (d)Retardation can be prevented by putting the baby on a
special diet for the first few years.

Y) Tay-sachs Disease

1) Inability to produce an enzyme that breakdown fats in the

brain. The fats keep collecting and put pressure on the
brain.

(a)Children die at an early age

(b) *Occurs in Jewish people

(c)Both parents carry recessive genes

(d)Can detect by blood test