7.4 Human Genetics and Pedigrees Set up Cornell Notes on pg. 87 •Topic: 7.4 Human Genetics and Pedigrees •Essential Questions: 1. NO EQ 2.1 Atoms, Ions, and Molecules 7.4 Human Genetics and Pedigrees KEY CONCEPT A combination of methods is used to study human genetics.
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7.4 Human Genetics and Pedigrees Set up Cornell Notes on pg. 87 Topic: 7.4 Human Genetics and Pedigrees Essential Questions: 1. NO EQ 2.1 Atoms, Ions,
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7.4 Human Genetics and PedigreesSet up Cornell Notes on pg. 87•Topic: 7.4 Human Genetics and Pedigrees
•Essential Questions:
1. NO EQ
2.1 Atoms, Ions, and Molecules
7.4 Human Genetics and Pedigrees
KEY CONCEPT A combination of methods is used to study human genetics.
7.4 Human Genetics and Pedigrees
86Autosomal Dominant Pedigree
Autosomal Recessive Pedigree
Autosomal Recessive Pedigree #2
7.4 Human Genetics and Pedigrees
KEY CONCEPT A combination of methods is used to study human genetics.
7.4 Human Genetics and Pedigrees
• The basic principles of genetics are the same in all sexually reproducing organisms.
– Inheritance of many humantraits is complex
– Single-gene traits areimportant in understandinghuman genetics.
Ex: widow’s peak
Widow’s peak
7.4 Human Genetics and Pedigrees
Boxes = malesCircles = females Shaded = they show the traitWhite = does not show traitHalf shaded = carrier (Carrier= Only for recessive disorders)Offspring is dead=
A pedigree is a chart for tracing genes in a family.
Pedigree Key:
• Phenotypes are used to infer genotypes
Please copy on Pg. 87
7.4 Human Genetics and Pedigrees
1. How many females are in this family?2. How many carriers?3. How many children were in generation two?4. How many offspring in generation three are affected by the trait?
Generation 1
Generation 2
Generation 3
Generation 4
Pg. 86 top margin
7.4 Human Genetics and Pedigrees
1. How many females are in this family? 112. How many carriers? 73. How many children were in generation two? 54. How many offspring in generation three are affected by the trait? 2
Generation 1
Generation 2
Generation 3
Generation 4
7.4 Human Genetics and Pedigrees
Widow’s peak
No Widow’s peak
In pedigrees that show Autosomal Dominant Traits/Disorders- Many family members will be shaded
7.4 Human Genetics and Pedigrees
Jamie and Joe married in 1912. Joe was homozygous dominant for a Widow’s Peak, while Jamie did not have a Widow’s Peak. They had two children: A son named Kyle and a daughter named Marie.
Kyle married a woman who had no Widow’s Peak.Marie never married. Kyle and his wife had three children: Two boys and a girl.
•Do Kyle and Marie have Widow’s Peaks?•What percent of Kyle’s children can we expect to have Widow’s Peaks? •What percent of Kyle’s children can we expect to have NO Widow’s Peaks?
On the top of pg. 86, please create this pedigree and answer the following questions. Always include GENOTYPE when possible:
7.4 Human Genetics and Pedigrees
Joe Jamie
Kyle Marie
WW ww
7.4 Human Genetics and Pedigrees
Joe Jamie
Kyle Marie
WW wwWW x ww•100% Ww
WwWw
1. Yes, Kyle and Marie have Widow’s Peaks
7.4 Human Genetics and Pedigrees
Joe Jamie
Kyle Marie
WW wwWW x ww•100% Ww
WwWw
Ww x ww•50% Ww and 50% ww? ? ?
1. Yes, Kyle and Marie have Widow’s Peaks2. 50% should have Widow’s Peaks3. 50% should have NO Widow’s Peaks
ww
7.4 Human Genetics and Pedigrees
In pedigrees that show Autosomal Recessive Traits/Disorders only a few organisms, will be shaded in. •Only will show up if heterozygotes mate, may skip a few generations before reappearing.• REMEMBER: if it is an autosomal recessive disorders CARRIERS will be present and must be half shaded in.
7.4 Human Genetics and Pedigrees
aa
On the middle of pg. 86, Fill in the genotypes of this incomplete pedigree. Shade if necessary.
Albinism is an autosomal RECESSIVE disorder
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa or AA?
You need to complete two Punnet sqs. to find out the answer
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa or AA?AA x aa•100% Aa?Aa x aa•50% Aa--50% aa
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa or AA?AA x aa•100% Aa?Aa x aa•50% Aa--50% aa
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa
Aa or AA?
Can use previous Punnett Sq to answer this
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa Aa
Aa
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa Aa
Aa
Aa or AA?
AA x aa•100% Aa?Aa x aa•50% Aa--50% aa
Anyway to know for sure?
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa Aa
Aa
Aa or AA
?
? ?
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa Aa
Aa
Aa or AA
?
? ?
Aa or AA
SHADE AS NECESSARY
7.4 Human Genetics and Pedigrees
aa
aa
aaaa
Aa
Aa Aa Aa Aa
Aa
Aa or AA
?
? ?
Aa or AA
SHADE AS NECESSARY
7.4 Human Genetics and Pedigrees
Mary and Joe were married in 1950.
Both Mary and Joe were carriers for a fatal recessive disorder called Cystic Fibrosis.
They had three children: A son named Pete who was a carrier, a son named Charles who was not a carrier and did not have the disease, and a girl named Isabel who died from Cystic Fibrosis.
Pete married a woman who was homozygous dominant. Pete and his wife are worried about having a child with Cystic Fibrosis.
Should they worry? What are the chances of any of their children having Cystic Fibrosis? Carriers?
Bottom of Pg. 86
7.4 Human Genetics and Pedigrees
Joe Mary
PeteIsabel
Ff Ff
Ff ffFF
Charles
FF?
7.4 Human Genetics and Pedigrees
Joe Mary
PeteIsabel
Ff Ff
Ff ffFF
Charles
FF
FF x Ff•O%- No chance of any of their children having the disorder•50% will be carriers
They DO NOT need to be worried about having a child with CF
7.4 Human Genetics and PedigreesSet up Cornell Notes on pg. 89•Topic: 7.4 Human Genetics and Pedigrees
•Essential Questions:
1. NO EQ
2.1 Atoms, Ions, and Molecules
7.4 Human Genetics and Pedigrees: Sex-linked traits
7.4 Human Genetics and Pedigrees
Females can carry sex-linked genetic disorders.
• Males (XY) express all of their sex linked genes.• Expression of the disorder depends on which parent carries
the allele and the sex of the child.
XY
7.4 Human Genetics and Pedigrees
• In pedigrees showing Sex-linked traits: More males will be shaded in because they do not have another X to mask the disorder Ex: Color blindness
males
females
7.4 Human Genetics and Pedigrees
X-linked Color Blindness- Recessive XMXM= NormalXMXm= carrierXmXm= CBXMY= NormalXmY= CBXmY
XmY
XmY XmY
XMY
XMXm
XMXm XMXm XMXm
XMXM or XMXm
?
On pg. 88, Fill in the genotypes of this incomplete pedigree. Shade if necessary.
7.4 Human Genetics and Pedigrees
• A karyotype is a picture of all chromosomes in a cell.
X Y
7.4 Human Genetics and Pedigrees
• Karyotypes can show changes in chromosomes.
– deletion of part of a chromosome or loss of a chromosome
– large changes in chromosomes– extra chromosomes or duplication of part of a
chromosome
7.4 Human Genetics and Pedigrees
• In down syndrome a person has an extra copy of chromosome 21.
• In Klinefelter’s syndrome a male has an extra X (XXY).
7.4 Human Genetics and Pedigrees
Pedigree Practice Worksheet
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many males?• How many males have
hemophilia?
• How many females?• How many females have
hemophilia?
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many males? 8• How many males have
hemophilia? 3
• How many females? 8• How many females have
hemophilia? 2
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many marriages are there?
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many marriages are there? 3
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many children did the first couple have?
• How many children did the third couple have?
• How many generations are there?
• How many members in the 4th generation?
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
• How many children did the first couple have? 2
• How many children did the third couple have? 7
• How many generations are there? 4
• How many members in the 4th generation? 7
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
Now the harder part…Determine the GENOTYPES for as many of the family members as possible.
You can find all genotypes except for one.
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
Fill in the OBVIOUS genotypes first (the affected individuals)
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
Fill in the OBVIOUS genotypes first •the affected individuals•The non-affected males
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY XNY
Then start at the top, and using Punnett Sqs. Determine the possible genotypes of the female offspring in each generation.
You may need to complete more than one!!!!!
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNY XnXn/
• 100% XNXn
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNY XNXn/
• 50%• 50%
XNXn
XNXN
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXnXNXn or XNXN
?
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNXn or XNXN
?
You need to complete 2 test crosses to figure out what mom is.
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNXn or XNXN
?
XnY / XNXn
XnY / XNXN
and
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNXn or XNXN
?
XnY / XNXn
XnY / XNXN
and
XNXn
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNXn or XNXN
?XNXn
XNXn XNXn
SHADE THE CARRIERS IN AS NECESSARY
7.4 Human Genetics and Pedigrees
4 5
6 7 8 9
10 11 12 13 14 15 16
XnXn
XnXn
XnY
XnYXnY
XNY
XNY
XNY
XNY XNY
XNXn XNXn
XNXn
XNXnXNXn
?XNXn or XNXN
Now answer the rest of the questions.
7.4 Human Genetics and Pedigrees
Pedigree Worksheet
• Complete the back by yourself for homework
Part B• NOT SEX-LINKED (no XX or XY)• Determine if black fur or white fur is dominant or
recessive• Use pencil in case you make mistakes
Part C• Draw your own pedigree for the SEX-LINKED disorder• Outline each shape following the color-coding key
7.4 Human Genetics and Pedigrees
Who Gets the Money
Purpose: To solve a mystery involving genetics
Background: Mr. and Mrs. John Jones dies in a tragic farm accident when the tractor they were riding on rolled over in a ditch. Authorities found one million dollars hidden in a feed bin in the chicken coop. The couple is known to have a son, from whom they are estranged. This man is sole heir to the Jones fortune.
Procedure: Completes parts one, two, and three to find out who gets the money!
7.4 Human Genetics and Pedigrees
Who Gets the Money
• Part I: Dihybrid Cross• Part II: Punnett Squares• Part II: Sex-linked Traits