7.4 human genetics and pedigrees set up cornell notes on pg. 87 topic: 7.4 human genetics and...

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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

Blood type: Genotype possibilities

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