Cystic fibrosis
Excessive mucus production, causes digestive & respiratory failure. Could lead to death if not treated daily.
Albinism
No color in skin, hair and eyes. Highly sensitive to sunlight.
Galactosemia
Can't break down galactose. Causes mental disabilities, enlarged liver and kidney failure.
Tay-Sachs disease
Missing enzyme that breaks down fats. Build up of fatty deposits in the brain causes mental disabilities and blindness. Could lead to death in early childhood
Phenylketonuria
lack of an enzyme needed to break down phenylalanine. Newborn disease. Phenyl. Build up in the tissues and causes mental retardation. On chrom 12
Huntington's disease
Mental deterioration and uncontrollable movements. Symptoms don't appear until 30's.Chrom 4
Achondroplasia
Short arms and legs with a large head.
Hypercholesterolemia
excess cholesterol in the blood
Pedigree
a diagram that shows the inheritance of a particular trait through generations.
draw
Incomplete dominance
The heterozygous phenotype is somewhere between homozygous and heterozygous phenotypes. This is caused by a defective gene. (Blending)
Codominance
both alleles are expressed in the heterozygous phenotype.
Malarias
a parasitic disease that attacks healthy red blood cells.
Epistasis
interaction between alleles in which one hides the effects of another allele.
Autosomes
the first 22 pairs of chromosomes
Sex chromosomes
There are two types - X and Y. They are the last pair of chromosomes; they decide the sex of the individual.
Hemophilia
is also a recessive sex-linked disease where the individual is deficient in blood clotting cells. (Royal disease)
Muscular dystrophy
loss of skeletal muscle. Deficient for a gene for muscle protein.
Karyotype
study of an individual's chromosomal make up. The chromosomes are paired up and placed in order to detect if there are any genetic disorders.
Non-disjunction
when sister chromatids fail to separate properly during meiosis. Chromosomal disorders
Turners Syndrome
the absence of a sex chromosome. Female in appearance, but their sex organs never become functional. They are sterile.
Klinefelter's Syndrome
the addition of a sex chromosome. Male in appearance, their sex organs never become functional and are sterile.
Down syndrome
a result of non-disjunction of the 21st pair resulting in 3 chromatids.
Gene mutations
involve individual genes
Chromosomal mutations
involve segments of chromosomes or whole
chromosomes.
Point mutation
involve one nucleotide
Frameshift mutation
when a base is either inserted or deleted from a codon.
Deletion
loss of apart of a chromosome
Duplication
addition of a part of a chromosome
Inversion
a piece breaks off turns and attaches the reverse direction
Translocation
a piece breaks off and attaches to a non-homologous chromosome