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Genetics (DNA)

The document discusses DNA, genes, and genetic concepts. It provides the following key points: 1) DNA contains the genetic blueprint located in chromosomes in the nucleus of cells. Genes are parts of DNA that code for proteins. 2) DNA is made up of nucleotides containing nitrogen bases that provide the genetic code. Genes account for only 3% of human DNA. 3) Genetic alterations can include changes in chromosome number, sections of DNA, or single nucleotides that can cause genetic disorders. Basic genetic concepts are the study of heredity through genes passed from parents to children.

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25 views22 pages

Genetics (DNA)

The document discusses DNA, genes, and genetic concepts. It provides the following key points: 1) DNA contains the genetic blueprint located in chromosomes in the nucleus of cells. Genes are parts of DNA that code for proteins. 2) DNA is made up of nucleotides containing nitrogen bases that provide the genetic code. Genes account for only 3% of human DNA. 3) Genetic alterations can include changes in chromosome number, sections of DNA, or single nucleotides that can cause genetic disorders. Basic genetic concepts are the study of heredity through genes passed from parents to children.

Uploaded by

michaeldevid7890
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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DNA, Chromosomes &

Genes

Meet the Gene Machine


DNA – genetic blueprint
• Deoxyribonucleic
acid (DNA)

• Located in the
nucleus

• rapped up in
structures called
chromosomes.

• 46 Chromosomes -
23 Pairs in every
cell

Meet the Gene Machine


DNA is made of segments called
Nucleotides
• The building blocks of
DNA are nucleotides.

• Each nucleotide has a


sugar S , a phosphate P
and a nitrogen base A ,
G , T or C

• There are 4 different


nitrogen bases in DNA
and they can vary from
one nucleotide to the
next

• The alternating bases


provide the CODE

Meet the Gene Machine


DNA structure
What is a gene?
• A part of the DNA
that codes for a
protein.

• Not all the DNA


codes for proteins.

• 30,000 genes in the


human genome.

Meet the Gene Machine


• In humans, the DNA molecule in a cell,
if fully extended, would have a total
length of 1.7 metres. If you unwrap all
the DNA you have in all your cells, you
could reach the moon ...6000 times!

• Genes account for only about 3 per cent of


our DNA. The function of the remaining 97
per cent is still not clear

Meet the Gene Machine


Genetic Alterations

Meet the Gene Machine


Abnormal Number of
Chromosomes
Trisomies -3 copies rather than 2 copies of a chromosome
Monosomies – 1 copy rather than 2

3 pairs of
chromosome
21

Meet the Gene Machine


Changes in DNA
• Deletion: a section is missing

• Translocation: a section
shifts from one chromosome
onto another

• Inversion: a section gets


snipped off and reinserted
the wrong way around.

• Single gene changes: a


small nucleotide change in
a segment of the DNA that
codes for a gene

Meet the Gene Machine


Basic Genetic Concepts & Terms

10
Genetics: what is it?
• What is genetics?
– “Genetics is the study of heredity, the process in which a
parent passes certain genes onto their children.”
(http://www.nlm.nih.gov/medlineplus/ency/article/00204
8.htm)

• What does that mean?


– Children inherit their biological parents’ genes that
express specific traits, such as some physical
characteristics, natural talents, and genetic disorders.

11
Word Match Activity
Match the genetic terms to
their corresponding parts
of the illustration.
• base pair
• cell
• chromosome
• DNA
(Deoxyribonucleic Acid)
• double helix*
• genes
• nucleus
Illustration Source: Talking Glossary of
Genetic Terms
http://www.genome.gov/glossary.cfm?ke
y=chromosome 12
Word Match Activity
• base pair nucleus chromosome

• cell
• chromosome
• DNA
(Deoxyribonucleic Acid) cell
• double helix*
• genes
• nucleus
base pair
(double
Illustration Source: Talking Glossary of helix)
Genetic Terms DNA
http://www.genome.gov/glossary.cfm?k
ey=chromosome
genes

13
Genetic Concepts
• H describes how some traits are
passed from parents to their children.
• The traits are expressed by g , which are
small sections of DNA that are coded for
specific traits.
• Genes are found on ch ___.
• Humans have two sets of _ (hint: a number)
chromosomes—one set from each parent.
14
Genetic Concepts
• Heredity describes how some traits are
passed from parents to their children.
• The traits are expressed by genes, which are
small sections of DNA that are coded for
specific traits.
• Genes are found on chromosomes.
• Humans have two sets of 23 chromosomes—
one set from each parent.
15
Genetic Terms
Use library resources to define the following words and write
their definitions using your own words.
– allele:
– genes:
– dominant :
– recessive:
– homozygous:
– heterozygous:
– genotype:
– phenotype:
– Mendelian Inheritance:
16
Mendelian Inheritance
1. The inherited traits are determined by genes that
are passed from parents to children.

2. A child inherits two sets of genes—one from each


parent.

3. A trait may not be observable, but its gene can be


passed to the next generation.

17
Mendelian Inheritance
Each person has 2 copies of every gene—one copy
from mom and a second copy from dad. These copies
may come in different variations, known as alleles,
that express different traits.
For example, 2 alleles in the gene for freckles are
inherited from mom and dad:
– allele from mom = has freckles (F)
– allele from dad = no freckles (f)
– child has the inherited gene pair of alleles, Ff
(F allele from mom and f allele from dad).

18
Human Genome

Most human cells


contain 46 chromosomes:

• 2 sex chromosomes (X,Y):


XY – in males.
XX – in females.

• 22 pairs of chromosomes
named autosomes.

19
Genotypes Phenotypes

• At each locus (except for sex chromosomes)


there are 2 genes. These constitute the
individual’s genotype at the locus.

• The expression of a genotype is termed a


phenotype. For example, hair color, weight,
or the presence or absence of a disease.

20
Genotypes Phenotypes (example)

genotypes

phenotypes

• Eb- dominant allele.


• Ew- recessive allele.
21
Dominant vs. Recessive

• A dominant allele is
expressed even if it is
paired with a recessive
allele.

•A recessive allele is
only visible when paired
with another recessive
allele.

22

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