MaQueens genetics lab2
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Introduction
Genetic diseases are inherited based on DNA, genes, and chromosomes. Genetic testing can identify certain inherited disorders, such as cystic fibrosis, as well as chromosomal abnormalities, such as Down syndrome. Fragile X, Turner syndrome, tay-sachs and hemophilia are all caused by genetic abnormalities. Genetic counselors look at family history, medical history and pregnancy history. Using this information, along with genetic testing, they are able to assess a person, or couple’s, risk factors for a particular genetic disorder or disease. Genetic counseling can take place prior to pregnancy by looking at the parents genes or during pregnancy by using an amniocentesis.
1. NBC Learn Video - Older Dads at Risk of Fathering Children with Autism
Couples with a family history of inherited disorders, those from certain ethnic groups, women exposed to toxins or women over 35 are all at increased risk of passing on genetic abnormalities.
2. NBC Learn Video - Researchers Map DNA of Fetus from Blood and Saliva of Parents
In this lab we will analyze the pedigree chart and karyotype for two patients (Kayla & Emily). A karyotype is a picture of stained chromosomes arranged to show chromosome pairs. Abnormalities in chromosome number or size can be easily identified in a karyotype. Pedigree charts give a symbolic representation of phenotypic (observable) traits through a family. Using a pedigree researchers can trace the pathway of a disease through families.
Patient Bios
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Kayla · Age: 35 · Kayla is seeking genetic counseling for muscular dystrophy. |
Emily · Age: 40 · Emily is seeking karyotype analysis |
Patient Chart
Please use the below chart for navigation to the tests. Once they are all completed, an "assessment" area will appear below the chart. You will need to fill it out and download the PDF to upload into the course for your assignment.
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Kayla |
Emily |
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Scenario 1 - Pedigree Analysis view test |
Scenario 2 - Karyotype view test |
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Relationship between 1 and 2 |
Not AnsweredXX |
Gender of Fetus |
Not AnsweredXX |
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Relationship between 1 and 5 |
Not AnsweredXX |
Chromosomal Abnormalites |
Not AnsweredXX |
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Relationship between 1 and 10 |
Not AnsweredXX |
Chromosomal Combination Result |
Not AnsweredXX |
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Relationship between 6 and 7 |
Not AnsweredXX |
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Relationship between 4 and 5 |
Not AnsweredXX |
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Relationship between 5 and 8 |
Not AnsweredXX |
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Relationship between 8 and 10 |
Not AnsweredXX |
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Relationship between 1 and 3 |
Not AnsweredXX |
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Chances mother is a carrier |
Not AnsweredXX |
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Chances Kayla is a carrier |
Not AnsweredXX |
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Chances Kayla passes the syndrome to male child |
Not AnsweredXX |
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If Kayla is a carrier, what are chances of having an affected child? |
Not AnsweredXX |
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If Kayla is not a carrier, what are chances of having an affected child? |
Not AnsweredXX |
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Assessment
1. What information might a genetic counselor provide to Kayla?
GeneticsLab
We're loading your saved work. One moment please...
·
·
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·
Introduction
Genetic diseases are inherited based on DNA, genes, and chromosomes. Genetic testing can identify certain inherited disorders, such as cystic fibrosis, as well as chromosomal abnormalities, such as Down syndrome. Fragile X, Turner syndrome, tay-sachs and hemophilia are all caused by genetic abnormalities. Genetic counselors look at family history, medical history and pregnancy history. Using this information, along with genetic testing, they are able to assess a person, or couple’s, risk factors for a particular genetic disorder or disease. Genetic counseling can take place prior to pregnancy by looking at the parents genes or during pregnancy by using an amniocentesis.
1. NBC Learn Video - Older Dads at Risk of Fathering Children with Autism
Couples with a family history of inherited disorders, those from certain ethnic groups, women exposed to toxins or women over 35 are all at increased risk of passing on genetic abnormalities.
2. NBC Learn Video - Researchers Map DNA of Fetus from Blood and Saliva of Parents
In this lab we will analyze the pedigree chart and karyotype for two patients (Kayla & Emily). A karyotype is a picture of stained chromosomes arranged to show chromosome pairs. Abnormalities in chromosome number or size can be easily identified in a karyotype. Pedigree charts give a symbolic representation of phenotypic (observable) traits through a family. Using a pedigree researchers can trace the pathway of a disease through families.
Patient Bios
|
Kayla · Age: 35 · Kayla is seeking genetic counseling for muscular dystrophy. |
Emily · Age: 40 · Emily is seeking karyotype analysis |
Patient Chart
Please use the below chart for navigation to the tests. Once they are all completed, an "assessment" area will appear below the chart. You will need to fill it out and download the PDF to upload into the course for your assignment.
|
Kayla |
Emily |
|
Scenario 1 - Pedigree Analysis view test |
Scenario 2 - Karyotype view test |
|
Relationship between 1 and 2 |
Not AnsweredXX |
Gender of Fetus |
Not AnsweredXX |
|
Relationship between 1 and 5 |
Not AnsweredXX |
Chromosomal Abnormalites |
Not AnsweredXX |
|
Relationship between 1 and 10 |
Not AnsweredXX |
Chromosomal Combination Result |
Not AnsweredXX |
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Relationship between 6 and 7 |
Not AnsweredXX |
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Relationship between 4 and 5 |
Not AnsweredXX |
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Relationship between 5 and 8 |
Not AnsweredXX |
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Relationship between 8 and 10 |
Not AnsweredXX |
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Relationship between 1 and 3 |
Not AnsweredXX |
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Chances mother is a carrier |
Not AnsweredXX |
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Chances Kayla is a carrier |
Not AnsweredXX |
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Chances Kayla passes the syndrome to male child |
Not AnsweredXX |
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If Kayla is a carrier, what are chances of having an affected child? |
Not AnsweredXX |
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If Kayla is not a carrier, what are chances of having an affected child? |
Not AnsweredXX |
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Assessment
1. What information might a genetic counselor provide to Kayla?
2. What information might a genetic counselor provide to Emily?
Scenario One - Our patient seeks genetic counseling
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Kayla has a family history of Duchenne muscular dystrophy (DMD), which is a sex-linked trait. The patient wishes to know her risk of having an affected child. Her grandmother was a known carrier. DMD is an inherited disorder that involves progressive muscle weakness. It affects approximately 1 in 3500 male births worldwide and is inherited in an X-linked recessive pattern.
Click here to learn more about DMD
The following pedigree was drawn up by the genetic counselor. Our patient, Kayla, is #13.
What are the relationships between:
Top of Form
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1 and 2 |
1 and 5 |
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1 and 10 |
6 and 7 |
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4 and 5 |
5 and 8 |
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8 and 10 |
1 and 3 |
What are the chances her mother was a carrier? What are the chances our patient is a carrier? What are the chances she passes the syndrome to a male child?
Bottom of Form
Testing would establish her status as either a carrier or a noncarrier.
Top of Form
If she is a carrier what are the chance of her having an affected child? If she is not a carrier what are the chance of her having an affected child?
Bottom of Form
Scenario Two - Our patient seeks genetic counseling
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Emily, a forty year old pregnant woman has an amniocentesis which provides the karyotype below.
Using the karyotype above answer the following questions:
Top of Form
What is the gender of the fetus? Are there any chromosomal abnormalities? What would this chromosomal combination result in?
Bottom of Form
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