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Lernmaterialien für Multifactorial Inheritance an der University of Bradford

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What is coronary artery disease?
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-caused by atherosclerosis 

-family history of CAD = x2 to suffer from CAD than those without a family history of CAD.

-Risk is greater if affected person is female and if onset in relative occurred  below age of 55.

- linked with genes encoding LDL receptor

-Heterozygosity for a mutation (1/500 individuals) and causes hypercholesterolemia.

-Environmental factors include, smoking, diet exercise.

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What is multifactorial inheritance?
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Inheriting a trait because of genetic and environmental factors

 i.e., hypertension.

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What is the threshold model?
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How likely someone will inherit a trait

Some traits do not follow a normal distribution and don’t follow the pattern for a single gene disorder.

Explained by a liability distribution.

Liability distribution:-

if at low end little chance of developing the disease 

if at higher end have more disease causing genes and more environmental factors so at higher risk of that disease.

Means that a threshold of liability must be exceeded before a disease is expressed.

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What is pyloric stenosis?
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Occur in the pylorus
Blockage in the pylorus
Build up of acid

Causes vomiting, weight loss & electrolytic imbalance, treated by surgery.

Prevalence in Caucasian population – 3/1000 but incidence is 1/200 for males and 1/1000 for females.

Difference in incidence reflects a lower prevalence threshold in males and higher prevalence threshold in females.

Low prevalence threshold – fewer factors required cause disease
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What is the recurrence risk for autosomal single gene disorder?
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Autosomal SGDs  -   50% for dominant,   25% for recessive.

Multifactorial – more complex because  number of genes contributing are unknown

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How are empirically determined risks achieved by & provide an example?
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Achieved by:-

  a) Examining large number of families with proband(1st person in familia to receive genetic counselling for genetic disorder) .

  b) Determining the % of relatives to develop the disease.

  

Example – Neural tube defects – in US, defects seen in 2-3% of proband siblings, so recurrence risk for parents with one affected child is 2-3%.

Empirical recurrence  risk is disease specific.

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What are the general rules for multifactorial traits?
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1)Recurrence risk is higher if trait affects more than one family member, i.e. VSD – 3% if 1 affected sibling, but 10% if 2 affected siblings.
2)Severe expression in problem linked with greater risk for relatives.
3)Recurrence is high if problem is in less affected sex
4)Recurrence rates decrease rapidly in more distant relatives
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How do you study multifactorial inheritance?
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Families, genes & a common environment, thus, family members may share common traits, i.e. hypertension.

Is this down to genetics or environment (nature or nurture).

Examined using:-

a)Twin studies
b)Adoption studies
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What are monozygotic twins?
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Twins that come from one zygote or egg
The egg split into 2
Can share an aminion

genetically identical

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What are dizygotic twins?
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Twins that are in 2 separate eggs

derived from two ova being fertilised, so genetically no more alike than any other siblings. DZ twins can have different fathers! Any differences due to genetics and environmental factors.

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What is the meaning of concordance?
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twins share the same trait

If a trait is entirely due to genetics MZ twins should be 100% concordant and  DZ twins should be less concordant.

Concordance in DZ twins can vary between opposite sex and same sex twins for some traits.

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What is the meaning Of discordance twins ?
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Discordance in MZ twins suggest that environmental factors are important in that trait.
Twins who have different fathers

twins do not share the same trait.

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  • 7159 Karteikarten
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  • 12 Lernmaterialien

Beispielhafte Karteikarten für deinen Multifactorial Inheritance Kurs an der University of Bradford - von Kommilitonen auf StudySmarter erstellt!

Q:
What is coronary artery disease?
A:

-caused by atherosclerosis 

-family history of CAD = x2 to suffer from CAD than those without a family history of CAD.

-Risk is greater if affected person is female and if onset in relative occurred  below age of 55.

- linked with genes encoding LDL receptor

-Heterozygosity for a mutation (1/500 individuals) and causes hypercholesterolemia.

-Environmental factors include, smoking, diet exercise.

Q:
What is multifactorial inheritance?
A:
Inheriting a trait because of genetic and environmental factors

 i.e., hypertension.

Q:
What is the threshold model?
A:
How likely someone will inherit a trait

Some traits do not follow a normal distribution and don’t follow the pattern for a single gene disorder.

Explained by a liability distribution.

Liability distribution:-

if at low end little chance of developing the disease 

if at higher end have more disease causing genes and more environmental factors so at higher risk of that disease.

Means that a threshold of liability must be exceeded before a disease is expressed.

Q:
What is pyloric stenosis?
A:
Occur in the pylorus
Blockage in the pylorus
Build up of acid

Causes vomiting, weight loss & electrolytic imbalance, treated by surgery.

Prevalence in Caucasian population – 3/1000 but incidence is 1/200 for males and 1/1000 for females.

Difference in incidence reflects a lower prevalence threshold in males and higher prevalence threshold in females.

Low prevalence threshold – fewer factors required cause disease
Q:
What is the recurrence risk for autosomal single gene disorder?
A:

Autosomal SGDs  -   50% for dominant,   25% for recessive.

Multifactorial – more complex because  number of genes contributing are unknown

Mehr Karteikarten anzeigen
Q:
How are empirically determined risks achieved by & provide an example?
A:

Achieved by:-

  a) Examining large number of families with proband(1st person in familia to receive genetic counselling for genetic disorder) .

  b) Determining the % of relatives to develop the disease.

  

Example – Neural tube defects – in US, defects seen in 2-3% of proband siblings, so recurrence risk for parents with one affected child is 2-3%.

Empirical recurrence  risk is disease specific.

Q:
What are the general rules for multifactorial traits?
A:
1)Recurrence risk is higher if trait affects more than one family member, i.e. VSD – 3% if 1 affected sibling, but 10% if 2 affected siblings.
2)Severe expression in problem linked with greater risk for relatives.
3)Recurrence is high if problem is in less affected sex
4)Recurrence rates decrease rapidly in more distant relatives
Q:
How do you study multifactorial inheritance?
A:

Families, genes & a common environment, thus, family members may share common traits, i.e. hypertension.

Is this down to genetics or environment (nature or nurture).

Examined using:-

a)Twin studies
b)Adoption studies
Q:
What are monozygotic twins?
A:
Twins that come from one zygote or egg
The egg split into 2
Can share an aminion

genetically identical

Q:
What are dizygotic twins?
A:
Twins that are in 2 separate eggs

derived from two ova being fertilised, so genetically no more alike than any other siblings. DZ twins can have different fathers! Any differences due to genetics and environmental factors.

Q:
What is the meaning of concordance?
A:

twins share the same trait

If a trait is entirely due to genetics MZ twins should be 100% concordant and  DZ twins should be less concordant.

Concordance in DZ twins can vary between opposite sex and same sex twins for some traits.

Q:
What is the meaning Of discordance twins ?
A:
Discordance in MZ twins suggest that environmental factors are important in that trait.
Twins who have different fathers

twins do not share the same trait.

Multifactorial Inheritance

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