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Transcript
Human Genetics
Biology: Exploring Life
Campbell, Williamson, Heyden
Prentice Hall
1
12.1
The nucleus contains an
information richgenome.
2
DNA Packing in a Single Cell

1 chromosome = 1 DNA strand

Genome


Order of bases in DNA
Histones

DNA wraps around tiny proteins
3
Human Genome Project



Determine the sequence
and functions of all human
chromosomes
“rough-draft” done in 2000
Introns vs exons

Coding vs non-coding
4
12.2
Accidents affecting
chromosomes can
cause disorders.
5
Down Syndrome

Abnormal chromosomes


Trisomy 21



Miscarriage
Down Syndrome
Three chromosomes 21
Characteristics





Facial features
Below-average height
Heart defects
Immune dysfunction
Mental disability
6
Nonseparation of Chromosomes

Nondisjunction


Failure of
chromosomes to
separate
Causes?


Not known
Older women
7
Damaged Chromosomes

Duplication


Deletion


Fragment is lost
Inversion


Part of chromosome
is duplicated
Reversing a fragment
Translocation

Fragment attaches to
non-homologous
8
Jumping Genes

Barbara McClintock


1940’s
Single genes can move
around

Transposons

Genetic element that
moves from one location
to another in a genome
9
12.3
Mendel’s principles
apply to humans.
10
Human Pedigrees


Analyze patterns of inheritance
Pedigree


Family tree that records occurrences of traits
Use the pedigree


Attached earlobe is
recessive
Not enough info
11
Disorders Inherited as Recessive Traits

Carrier

Has copy of allele
but does not show
symptoms

Range of severity

Albinism

Tay-Sachs


Major nerve damage
Cystic Fibrosis


1/25 from European decent
Defective protein secretes
excessive mucus
12
Disorders Inherited as Dominant Traits

Examples



Extra fingers and toes
Achondroplasia



Heterozygous
Two copies – fatal
99.99% population has
homozygous recessive
Recessive alleles
sometimes common


Death
Huntington's
Disease


Middle-age nervous
system
degeneration
Chromosome #4
13
Sex-linked Disorders



Most located on X
chromosome
♂ only needs one “bad”
allele
♀ needs both “bad”
alleles
14
Predicting and Treating Genetic Disorders

Genetic counselor


Tests before birth


Collects, analyzes and explains
patterns of inheritance
Trisomy 21
Tests after birth

Phenylketonuria (PKU)

Causes metal disability
15
12.4
Genetic Changes
contribute to cancer.
16
Cancer Genes

Pics




Growth factor


Initiate cell division
Tumor-suppressor genes


Breast cancer
Brain cancer
Immune system attacks
cancer
Proteins to stop cell division
Oncogene

Cancer causing gene
17
“Inherited” Cancer



Always is from damaged
or changed DNA
Not passed from parent
to child if non-sex cell
Mutated tumorsuppressor-gene BRCA1

More likely to form breast
cancer
18
Permission Statement
Restricted to the use of New Berlin Eisenhower High School
(New Berlin, WI) Students, Faculty and Staff.
Contact the Science Department for usage permissions.
©2006
19