Chapter 29 1110/1120 Flashcards
is the study of heredity—that is, the characteristics children inherit from their parents.
Genetics
the study of how genetic traits are passed from parent to offspring. Mendelian genetics allows us to make predictions about the patterns of how traits are passed from one generation to the next.
Mendelian genetics
e genetic approach to the diagnosis and management of disease, has indeed come a long way since its early beginnings.
genomic medicine
or sex cells, each gamete receives one of these factors. Then two gametes combine to produce the next generation, so that each member of the next generation of pea plants has two heritable factors for each characteristic.
gametes
is the genes an organism has for a given trait. The actual genetic constitution of an individual is its
genotype
is the expression of the genes as a trait.
phenotype
Mendel stated that genes occur in dominant and recessive forms. Alternate forms of genes
alleles
for a trait if the two alleles for the trait are identical.
homozygous
for a trait if the two alleles for the trait are different.
heterozygous
results in a lack of normal coloring of the skin, hair, and eyes. Several human genes produce the enzymes that are necessary for the synthesis of melanin, the pigment responsible for skin, hair, and eye color
albinism
has extra fingers or toes. One allele for polydactyly is dominant over the recessive, normal allele that results in the normal number of fingers or toes.
polydactyly
are all the cells of the body except the gametes. Examples of somatic cells are epithelial cells, muscle cells, neurons, fibroblasts, lymphocytes, and macrophages
Somatic cells
The somatic cells have a normal number of chromosomes
diploid
The normal number of chromosomes in a gamete
haploid
Humans have 22 pairs of this. which are all the chromosomes except the sex chromosomes, and 1 pair of sex chromosomes, which determines the sex of the individual. Sex chromosomes are denoted as X or Y chromosomes.
autosomal chromosomes
is a display of the chromosomes of a somatic cell during metaphase of mitosis. It is produced by photographing the cell’s stained chromosomes through a microscope and arranging the photographed chromosomes in pairs
karyotype
An individual has only two alleles for a given gene, one on each homologous chromosome. At the population level, however, many forms of an allele may exist.
multiple alleles
is an autosomal recessive trait with multiple alleles. A gene on chromosome 12 encodes for an enzyme that converts the amino acid phenylalanine to the amino acid tyrosine
phenylketonuria
his type of inheritance pattern in which the dominant allele is fully expressed over the recessive allele
complete dominance
two alleles at the same locus are expressed, so that separate, distinguishable phenotypes occur at the same time.
codominance
the dominant allele does not completely mask the effects of the recessive allele in the heterozygote. The heterozygote produces less of the protein product than the homozygous dominant and has phenotypic characteristics intermediate between the homozygous dominant and the homozygous recessive.
incomplete dominance
is a disorder of a gene on chromosome 11. It affects the synthesis of β-globulin polypeptide chains, which are part of the hemoglobin in red blood cells.
beta thalassemia
two abnormal alleles are present, and much lower-than-normal amounts of β-globulin polypeptide chains are synthesized.
major thalassemia
which is a deficiency of hemoglobin in the blood. Symptoms include pallor, weakness, fatigue, and spleen enlargement. Blood transfusions are necessary to maintain hemoglobin levels. In the heterozygous condition
anemia