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Multifactorial diseases

The multifactorial diseases referrers to lots of several factors that are genetic and

Monogenic disease = one mutation in one gene. Only one gene factor is necessary to develop
the disease.

Blending characters= characters that shows aggradation to phenotypes for example, diabetes
which has many factors that causes the diseases.

Multifactorial = each genotype confers a different phenotype.

For each locus there are two alleles and the genotype is the combination of the alleles. There
are 3 locus = 2 normal alleles homozygotes, 1 heterozygote normal/ mutated allele, 1 recessive
allele normal/mutated.
In this type of diseases all the individuals will be heterozygotes and the small portion will be
mutated homozygous or mutated.

Ex. Height =- most individuals represent the average amount.

Quantitative trait = a trait that can be measured like height, weight, age, blood pressure,
glucose levels, lipids.
Polygenic diseases = many genes more than 5 genes. Ex. Diabetes (genetic factors +
environmental factors).
Oligogenic = a few genes involved less than 5 genes.

Characteristics of this type of diseases:

Isolation = the parents they don’t have the disease but the children one or two will be affected.
Familial aggregation = more than one individual will be affected in the same family.
Late onset = disease appear later in life of an adult. This is due to environmental factors like
smoke, 2nd type of disease, diet.
Environmental factors = can increase or decrease the risk to developing the disease.
This type of disease is affects more one gender than the other but no gender is omitted. For
example, hypercholesteremia more common in males than females.
Index case = first degree relatives if have disease than the offspring will be more likely to have
the disease.
Ethnicity – also takes a play in the multifactorial diseases.
Ex. Hemophilia disease is most common in African Americans.

“The greater the penetrance of the gene the lower the environmental impact”. This means the
environment has a lower effect in the gene phenotype than the gene itself.
Heritability = represent a specific inherited gene for each disease. For example, rheumatoid
arthritis 75% caused by mutated genes and 25% caused by the environment.
The recurrence risk is much higher if more than one family member is affected. If the
expression of the disease in the proband is more severe, the recurrence risk is higher. The
recurrence risk is higher is the proband is of the less commonly affected sex for example,
coronary artery most common in men. The recurrence risk for the disease usually decreases
rapidly in more distant relatives.

Family pedigree = used to study the multifactorial diseases.

Twins studies = homozygotic ( identical) and heterozygotic ( fraternal share a strong
presentation of DNA but not identical ).
Concordant = similar
Discordant = different
Susceptibility loci =

Examples of multifactorial diseases: Asthma, cleft, cancer, spinal fibula,

Genomic Imprinting


The normal individual have only one transcriptionally active copy of the gene from one parent.
The other parental gene that codes for the same protein will be silenced.
Normally = Two alleles from each locus (one from mom and one from dad) and they work.
Abnormal= Mom or dad chromosome is not working.

Epigenetic marks – are established during the germline and kept thru mitotic divisions all life.
Methylation – important to mark which genome will be imprinted.

Uniparental disomy = individual have abnormally two chromosomes from same parent.

Uniparental Disomy Diseases

Prader Willi syndrome

Chromosome from mom is not active so, the chromosome of the dad is working to produce
many genes. This is normal.
Abnormal = mom chromosome is inactive and the dad chromosome makes the genes then,
somehow the dad chromosome is deleted and the mother chromosome takes place and is
nonfunctional then you develop Prader Willi syndrome.
Abnormal 2 = mom chromosome is inactive and the dad chromosome makes the genes then,
somehow the dad chromosome is silenced then mother chromosome takes place this causes
Prader Willi syndrome.

Dad chromosome is silenced or deleted.

Symptoms : always hungry (obese) deficiency in the hypothalamic -pituitary adrenal axis,
breathing disorders
Winnie the Pooh = short height and short arms, always hungry

Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the
paternal chromosome 15 is deleted in each cell. People with this chromosomal change are
missing certain critical genes in this region because the genes on the paternal copy have been
deleted, and the genes on the maternal copy are turned off (inactive). In another 25 percent of
cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from
his or her mother (maternal copies) instead of one copy from each parent.

This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can
also be caused by a chromosomal rearrangement called a translocation, or by a mutation or
other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15

Most cases of Prader-Willi syndrome are not inherited, particularly those caused by
a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic
changes occur as random events during the formation of reproductive cells (eggs and sperm)
or in early embryonic development. Affected people typically have no history of the disorder in
their family.

Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example,
it is possible for a genetic change that abnormally inactivates genes on the
paternal chromosome 15 to be passed from one generation to the next.

Angelman Syndrome

Mom chromose is deleted or silenced.

Most types of genomic imprinting
Ataxia = inability to walk straight .
Symptoms = smiles at all times.
Psychomotor problem.

Beckwith Wiedemann Syndrome

Mother chromosome is imprinted.

IGF2 = insulin growth factor 2

Silver Russel Syndrome

Mother chromosome is inactive