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