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Biochemistry🧬 > Multifactorial Inheritance > Flashcards

Multifactorial Inheritance Flashcards

1
Q

what is the polygenic inheritance ?

A

Several genes located at
different loci contribute to the
etiology of the condition
disease.

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2
Q

example of polygenic and monogenic inheritance?

A

polygenic :
Diabetes mellitus
fingerprint ridge count

monogenic:
Sickle cell anemia is monogenic

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3
Q

what is the meaning of Multifactorial? With example ?

A

The effects of multiple genesInfluenced by and the pre- and postnatal environment .

height and skin color,
blood pressure, diabetes

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4
Q

Multifactorial follow or not for mendelian inheritance?

A

No

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5
Q

Multifactorial disorder can be categorized to ?

A

Congenital malformations

Acquired diseases of childhood and adult life

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6
Q

example of Congenital malformations?

A

Cleft lip/palate • Congenital heart defects • Neural tube defects (Spina bifida) • Pyloric stenosi

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7
Q

select the right disease for the right category?
Congenital malformations. Acquired diseases of childhood and adult life •

Cleft lip/palate
Schizophrenia
Cancer
Manic depression 
Congenital heart defects
Diabetes mellitus 
Neural tube defects (Spina bifida) 
Hypertension
Ischaemic heart disease
Epilepsy
Diabetes mellitus 
Pyloric stenosis
Asthma 
Autism
A 
Congenital malformations.            
 •
• Cleft lip/palate
 • Congenital heart defects
 • Neural tube defects (Spina bifida) 
• Pyloric stenosis
Acquired diseases of childhood and adult life •
Asthma 
• Autism 
• Epilepsy 
• Diabetes mellitus 
• Hypertension 
• Ischaemic heart disease
 • Manic depression 
• Schizophrenia
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8
Q

definition of Multigenic Inheritance ?

A

Caused by a number of genes at different loci which each have a small additive effect together with environmental factors

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9
Q

number of genes that affect height?

A

180

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10
Q

who is the control of the multigenic inheritance ?

A

single nucleotide polymorphisms ➢ These genetic polymorphisms all act
additively (80%). ➢ Plus interact with environmental factors
(Diet-protein, Vit D & A, calcium) to
determine final height (20%).

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11
Q

type of Multifactorial Traits? Example

A

continuous (or quantitative)
does not have a discreet phenotype e.G. Height, weight & blood pressure
Skin colour
Intelligence

discontinuous (qualitative)
discreet phenotype such as
diabetes and autism, left/ right
handedness
Gender 
Blood group 
Eye color 
 (i.E. Affected or not
affected)
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12
Q

the shape of the Normal distribution of counties Multifactorial Traits?

A

Bell shape

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13
Q 
what is the Multifactorial disease happen in
Cardiac
Genitourinary
Central nervous system
Other
A

Cardiac……… Fallot’s tetralogy
Genitourinary……… Renal dysgenesis
Central nervous system……… Spina bifida
Other……. Cleft lip/palate

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14
Q

recurrence risk for multifactorial Conditions is usually based on what ?

A

information collected from
observations of a large series of affected
individuals and families

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15
Q

when the -recurrence risk become higher?

A

More than one family member is affected

➢ The affected individual is of the less
commonly affected sex e.g. Heart disease

➢ The severity of the disease in the individual
is more severe

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16
Q

recurrence in first degree relatives can be calculated: by ?

A

Square root of incidence of the disease in the population

17
Q

Heritability meaning and example ?

A

Estimate of the proportion of the
variability in a trait that is due to
genetic rather than environment

Example: lipid levels vary across the population but less so
between family members. 
Lung Cancer(L) vs breast cancer (H)
18
Q 
mention the Heritability Estimates
Very high (>90%)
 High (>65%)
 Median)
Low (<35%) 
) Very low (<10%)
A 
Very high (>90%)
Bipolar 
Autism 
Body fat percentage 
Ridge count on fingerprint
 Height 
 High (>65%)
Asthma 
BMI 
Cleft lip 
Spina bifida

Median)
Blood pressure
Multiple sclerosis
Myocardial infarction (female)

Low (<35%) 
Myocardial infarction (male)

) Very low (<10%)
Contagious disease

19
Q

Genetic Epidemiology meaning ?.

A 
To identify the exact genes
that contribute to the
etiology of the disease
condition (or to distinguish
genetic and environmental
features):
20
Q

what is the Monozygotic and dizygotic twins ? And concordant And discordant?

A

Monozygotic (identical) twins single zygote genetically identical

concordant
(monozygotic) both twins share a trait

Dizygotic (fraternal) twins two eggs by different sperm and
are as different from each other genetically

discordant if they do not share the trait
(Dizygotic)

21
Q

features of autism?

A

Absence of verbal communication, lack of
social responsiveness,
developmental delay

22
Q

autism percentage in twins ?

A 
✓ = 80% in monozygotic twins
✓ = 3% in dizygotic twins
23
Q

how many genes contribute to autism ?

A

15 susceptibility loci – each

makes a modest additive contribution

24
Q

What is pylorus?

A

lower portion of the stomach that connects to the small

intestine

25
Q

What is pyloric stenosis,?

A

muscles in pylorus enlarge, narrowing the opening of the pylorus and eventually
preventing food from moving from the stomach to the
intestine

26
Q

What is the Second most common problem requiring surgery in newborns?

A

Pyloric Stenosis

27
Q

pyloric stenosis percentage in twins ? monozygotic?.

A

25-40% concordance rate in monozygotic twins

28
Q

compare between Diabetes Mellitus 2 forms from type of people , coplecation percentage ?

A

Type I – IDDM (insulin dependent DM)
• Juvenile onset
• 0.4% population
• Serious renal, retinal, vascular complications

Type II – NIDDM (non-insulin dependent DM)
• Mature onset
• 5-6% population
• Relatively benign

29
Q

concordance of Diabetes Mellitus 2 forms?

A

Type I

✓ 50% monozygotic
✓ 12% dizygotic

Type II

✓ 80% monozygotic
✓ 20% dizygotic

30
Q

how many genes contribute to diabetes-predisposing?. 2 examples

A

18 diabetes-predisposing genes
have been reported to date

histocompatibility complex (HLA) region on
chromosome 6p21 (IDDM1) and the insulin gene on
chromosome 11p15 (IDDM 2) have been conclusively
associated with susceptibility to type 1 diabetes
31
Q

Environmental factors of type II – IDDM ?

A

low birth weight
obesity
middle aged

32
Q

Example of genes that point to an increased risk of type 2 diabetes

A

E .g: Zinc transporter

gene (regulating insulin secretion)

33
Q

what is the percentage of people death because of Coronary Artery Disease?

A

50%

34
Q

from where Results Coronary Artery Disease?

A

atherosclerosis (lipid deposition in

arteries) – leads to myocardial infarction

35
Q

Environmental risk factors of Coronary Artery Disease?

A

poor diet, cigarette

smoking, stress

36
Q

Coronary Artery Disease percentage in twins ?

A

Concordance:
➢ 39-48% in monozygotic twins
➢ 15-25% in dizygotic twin

37
Q

definition of Epistasis?

A

.type of gene interaction where an allele at a
particular locus alters the phenotypic expression of
another non-allelic gene
✓ i.e. Phenotypic expression of one gene is
influenced by another gene
• The action of one gene is modified by one or several
other non-allelic genes

modification of
the phenotype of one gene by another gene

38
Q

type of Epistasis?

A

synergistic enhancing the
effectiveness) or
antagonistic (reducing the activity)

39
Q

Examples of Epistasis?

A

Suppressor Genes – encode a genetic
factor that prevents the expression of
alleles at a second locus

dominant
disorders, such as polydactyly (extra
fingers or toes), appear to skip generations

up-regulation of the gamma chain
compensates for loss of β -globin

sickle cell disease or some of the other
haemoglobinopathies e.g. thalassaemias

Biochemistry🧬 (10 decks)

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