Genetics & Hereditary

Disorders
 Genetics
 Heredity refers to the passing on of
characteristics

DNA is deoxyribonucleic acid, our
hereditary material

 DNA is made up of sugar, phosphate,
and 4 nitrogenous bases:
o Adenine, thymine, guanine and
cytosine

 Genetics
 DNA has to replicate before cell division,
because DNA is found in the nucleus


 Chromosomes are DNA molecules curled

around histone proteins


 Everyone has 46 chromosomes in each of their

cells


A gene is a sequence of DNA that contains

instructions to make proteins
 Gender
Chromosome pairs 1-22 work on the
function or development of body

Pair 23 determines sex

Two X chromosomes means it’s a girl

A boy has X and Y chromosomes

 Disorders & Replication
Genes accomplish important tasks,
and if there is a malfunction while
DNA replication, a disorder will occur
in the baby developing in the womb
During cell division, the chromosome
may fail to split and therefore, a
daughter cell will:
o Have an extra chromosome, OR
o Have a missing chromosome
 Down Syndrome
A disorder caused by an extra
chromosome 21

Causes severe mental retardation

Occurs in every 1 out of 800 babies

 Health Issues and DS
 Almost half of DS pts will have a
congenital heart defect

 Many babies with DS are rejected by the
body and are therefore miscarried

 About 92% of women who find out they
are carrying a DS baby will abort

 Many children with DS also suffer from
hypotonia


 Behavior Issues and DS
As DS children grow into their late
teen years, they will begin to realize
their limitations and grow frustrated
and angry

DS children tend to be stubborn.
Children with DS
 Fragile X Syndrome
 Most common cause of inherited mental
retardation(including autism)

A fragile X chromosome may break and
damage gene

X chromosome houses FMR1 which
produces a protein(FMRP) important to
brain development & cell
communication

 People with FXS have a deficiency in
FMRP
 Inheriting Fragile X
A person may get this disorder
without his or her parent’s having it,
but a male relative will most likely
have it.

Women tend to be the carriers and
mainly affects men.

Causes seizures, severe retardation,
growth problems, memory
impairment.
 Fragile X in kids
Strategies for children with ADHD tend
to be as helpful for those with FXS
o Children with FXS can’t sit down and listen
for long amounts of time.
o Like children with DS, children with FXS
may take years to be potty trained.
o Teens and adults with FXS can become
angry/violent and will be put on
medication if misbehavior persists.
 Hemophilia
 Hemophilia refers to a group of bleeding
disorders in which it takes a long time
for the blood to clot. (health.google.com)


 Type A and Type B have similar

symptoms, but are different gene
mutations

 Mutation in F8 gene causes type A

 Mutation in F9 gene causes type B

 Hemophilia A & B
Type A is caused by a mutation in the
F8 gene which causes a protein
called coagulant factor VIII(8)

Type B is caused a mutation in the F9
gene which causes another protein
called coagulant factor IX(9)


This is an X-linked disorder


 Treating Hemophilia
Starts at birth

Treated by replacing coagulant factors
usually through IV

http://www.youtube.com/watch?v=nnvOS

 Fin!