How To Read A Pedigree

Download as ppt, pdf, or txt
Download as ppt, pdf, or txt
You are on page 1of 40

Pedigree Charts

The family tree of genetics

Pedigree Charts
I
II
III

Overview
What is a pedigree?

I.

a.
b.

Definition
Uses

Constructing a pedigree

II.

a.
b.
III.

Symbols
Connecting the symbols

Interpreting a pedigree

What is a Pedigree?
A

pedigree is a chart of the genetic


history of family over several
generations.

Scientists

or a genetic counselor would


find out about your family history and
make this chart to analyze.

Constructing a Pedigree

Female

Male

Connecting Pedigree Symbols


Examples of connected symbols:
Fraternal

twins

Identical

twins

Connecting Pedigree Symbols


Examples of connected symbols:
Married
Siblings

Couple

Example
What

like?

does a pedigree chart look

Symbols in a Pedigree Chart

Affected
X-linked
Autosomal

carrier
Deceased

Interpreting a Pedigree Chart


1.

Determine if the pedigree chart shows an


autosomal or X-linked disease.
If most of the males in the pedigree are
affected the disorder is X-linked
If it is a 50/50 ratio between men and
women the disorder is autosomal.

Example of Pedigree Charts


Is

it Autosomal or X-linked?

Answer
Autosomal

Interpreting a Pedigree Chart


2.

Determine whether the disorder is


dominant or recessive.
If the disorder is dominant, one of
the parents must have the disorder.
If the disorder is recessive, neither
parent has to have the disorder
because they can be heterozygous.

Example of Pedigree Charts


Dominant

or Recessive?

Answer
Dominant

Example of Pedigree Charts


Dominant

or Recessive?

Answer
Recessive

Summary
Pedigrees

are family trees that explain


your genetic history.
Pedigrees are used to find out the
probability of a child having a disorder
in a particular family.
To begin to interpret a pedigree,
determine if the disease or condition is
autosomal or X-linked and dominant or
recessive.

Pedigree Chart -Cystic Fibrosis

Human Genetics

Karyotype

Chromosome Number
Different # for
Homologous
different species
Chromosomes

Full set =
2N=Diploid
are
the
sets
of
N=
each
pair

# pairs

1 pair from mother


1 pair from father
Humans= 23 pairs or
46 total

Autosomes & Sex


Chromosomes

Autosomes = # 122 for all traits


except sex
Sex chromosomes=
Pair # 23 XX(female) or
XY(male)

Down Syndrome= 3 of #21

Klinefelters = XXY

Multiple Alleles
More

than TYPES:
one type of A
I AI A, I Ai
allele for a B
IBIB , IBi
trait
AB IAIB
Example:
O
ii
Blood Type

Mutation

1.

2.

3.
4.

Change in DNA
code
Caused by:
Chemical
damage
Errors in
Replication
X-ray damage
UV damage

A
T
G
C

A
to A
G
C

Mutation
Changes

in the
DNA code
= Changes in
the final
proteins made
=Changes in
the organism

Genetic
Technology

Recombinant

DNA &
Bacterial Transformation

1. Transgenic tobacco plant?


Genetically

engineered
Inserting fire
fly genes into
the plant
Using cut &
paste
enzymes

2. Genetic Engineering:
Altering

the genetic makeup


of an organism
By Cutting DNA from one
organism and inserting
fragments into a host
Recombinant DNA
Alters the allele frequency of
a population by artificial
means

Recombinant DNA:
Recombine
Connecting

or
reconnecting DNA
fragments
DNA of two different
organisms

Example: lab of inserting human DNA into


bacteria

Genetic Engineering of Insulin


Human DNA cut out
Human DNA put
into bacteria DNA

Bacteria DNA is opened up

Many Bacteria
Grow human
insulin

4. Transgenic Organism:
trans

= across
genic = race
Contains genes from
another organism
Bacteria
Virus
Human

5. Tobacco Recombinant DNA


Process:
a.

b.

c.

Isolated DNA to be
inserted into host
Attach DNA fragment to a
vehicle (vector)
Transfer the vector to the
host=
Transgenic organisms

Restriction Enzymes:

Human Cut
Restriction Enzymes cut DNA at
very specific sites
Separate the base pairs of both
strands
Scissors in Recombinant DNA

Bacterium
DNA cut

7. Sticky ends
DNA

cuts that have single


stranded ends
Attract corresponding base
pairs
Made by special restriction
(cutting) enzymes
GGCCATTAC
Stick together
TACCGG
CCGC
TAATGATGGC

Vectors = vehicles
Carry

foreign DNA
fragments into the host
Bacteria carried the firefly
DNA into the tobacco cells
Biological or
Mechanical

Vectors:
Biological: Mechanical:
Virus
Micropipett
Bacterial
e
plasmid
Metal bullet
(circular
coated with
DNA)
DNA

Recombinant DNA Uses:


Grow human
hormones in
bacteria cultures
Artificial
sweeteners using
bacteria to make
amino acids
Study human
diseases by
inserting human
DNA into mice
Replace incorrect
DNA sequences

Replace harmful
bacteria on plants
Nitrogen bacteria
in the soil &
plants to make
fertilizer
Improve transport
of fruits
Resist diseases
Increase protein
production

You might also like