primarily production of ATP and mitochondria in the presence of oxygen. Absence of oxygen means less ATP
Phagocytosis
Epithelial cells
Perfusion pressure
Transmission of genetic disease
involves sodium movement one sit of mutation in large molecule that spans plasma membrane 1500 named mutations in CF gene 5T allele (UNC, 1997) found in 10% of population increased risk of chronic lung and sinus infections and male infertility 70% who have clinical CF have a deletion mutation out of a quarter million base pairs three are missing results in omitting 1 of 1480 amino acids
lots of characteristics broad face slanted eyes short broad hands slanted fingers growth failure mental retardation varies dramatically congenital heart disease Multiple organ system problems developmental issues vary 80% have IQ in 25-50 range 20% have normal or near normal IQ can be independent Congenital heart defects are common Esophageal and intestinal complications are also common
Progeny
a descendant or offspring
Chromosomes
a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Gene
Basic units of heredity. a specific arrangement of nucleotide bases, which carry a code for constructing proteins.
allele
one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.
homozygous
having two identical alleles of a particular gene or genes.
heterozygous
having two different alleles of a particular gene or genes.
genotype
the genetic constitution of an individual organism.
karyotype
a picture of the chromosomes that are contained within the DNA of a species. contains 23 pairs of chromosomes.
phenotype
the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment
translocation
In genetics, a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced.
single nucleotide poly-morphisms (SNP)
These are changes in one nucleotide of a gene sequence.