 Autosome - any chromosome other than the X & Y  Sex chromosomes – 23rd pair of determine sex in organism

 A picture of chromosomes arranged based on size and shape.

 Karyotypes can identify abnormal number of chromosomes due to mistakes during meiosis.  Nondisjunction: the failure of chromosomes to separate properly during Anaphase I or II. Anaphase 1 Anaphase 2

Can lead to a number of disorders in the baby. Trisomy (extra chromosome) or Monosomy (one less chromosome). Down’s syndrome Klinefelter’s syndrome Turner’s syndrome Edward’s syndrome

 Sex: Female  # of chromosomes =46  Diagnosis: healthy

 46  Male  Healthy

 Male  47  Klinefelters

 Female  45  Turners

 Female  47  Downs Syndrome

 Male  47  Edward’s syndrome

 A chart that shows the relationships within a family that can be used to trace inheritance.

A circle represents a female.A circle represents a female. A circle represents a female A square represents a male A horizontal line connecting a male and female represents a marriage A vertical line and a bracket connect the parents to their children. A shaded circle or square indicates that a person expresses the trait. A circle or square that is not shaded indicates that a person does not express the trait.

LauraTomArleneTomJoannChuck DianeJack TammyNicoleTomJeffMattJessJodieMs. PittMonicaCandiceKayla MaeTom

 In female cells, one X chromosome is randomly switched off.  The turned off X chromosome forms a dense region in the nucleus called a Barr body.

 An ongoing effort to analyze the human DNA sequence.

 Slide I will do when I return.

Tay - Sachs Disease  More common among Jewish populations  Young children begin showing signs of slowed development  Severe impairment and death Build up of lipids in the body – lysosomes do not function properly

Cystic Fibrosis  More common in Caucasians  Mucus in respiratory tract, difficulty breathing  Extreme salty sweat  Mucus may cause secondary infections

Phenylketonuria (PKU)  Lack enzyme for normal metabolism  Phenylalanine builds up and causes brain damage  Newborns are routinely tested  Changes in diet lead to normal life

Sickle Cell Disease  More common in Africans (African-Americans)  Causes blood to be sickle shaped  Affects oxygen flow to organs, causing weakness, pain, anemia, etc  Heterozygotes are resistant to malaria

 Affected children usually have an affected parent  Heterozygotes are effected  Two heterozygotes (Hh x Hh) can produce a normal (hh) child

Huntington Disease  Neurological disorder, progressive degeneration of the brain  Symptoms appear later in life (40s, 50s)

Achondroplasia  Common form of Dwarfism  Short arms and legs, normal torso  Homozygotes (AA) do not survive

 Achondroplasia

Hypercholesterolemia  Incomplete dominance  Caused by a recessive allele, however in the heterozygous form (Hh), individuals have 2x the normal blood cholesterol levels