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Download Chapter 3: Genetics: From Genotype to Phenotype
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Structural genes: genes that contain the information to make a protein. Regulatory genes: guide the expression of structural genes, without coding for a protein themselves. Genotype: the genetic makeup of an individual. Genotype can refer to the entire genetic complement or more narrowly to the alleles present at a specific locus on two homologous chromosomes. Phenotype: an observable or measurable feature of an organism. Phenotypes can be anatomical, biochemical, or behavioral. ABO blood system type: refers to the genetic system for one of the proteins found on the surface of red blood cells. Consists of one gene with three alleles: A, B, and O. Recessive: in a diploid organism, refers to an allele that must be present in two copies (homozygous) in order to be expressed. Dominant: in a diploid organism, an allele that is expressed when present on only one of a pair of homologous chromosomes. Co-dominant: in a diploid organism, two different alleles of a gene that are both expressed in a heterozygous individual. Homozygous Heterozygous Genotype Phenotype AA Type A BB Type B OO Type O AO Type A BO Type B AB Type AB A complex interaction between genes, environments, and phenotypes. Blending inheritance: discredited 19th century idea that genetic factors from the parents averaged-out or blended together when they were passed on to offspring. Particulate inheritance: the concept of heredity based on the transmission of genes (alleles ) according to Mendelian principles. Heredity characteristics are controlled by particulate unit factors that exist in pairs in individuals. When an individual has two different unit factors responsible for a characteristic, only one is expressed and is said to be dominant to the other, which is said to be recessive. During the formation of gametes, the paired unit factors separate, or segregate, randomly so that each sex cell receives one or the other with equal likelihood. Mendel’s law of segregation: the two alleles of a gene found on each of a pair of chromosomes segregate independently of one another into sex cells. During gamete formation, segregating pairs of unit factors assort independently of each other. Mendel’s law of independent assortment: genes found on different chromosomes are sorted into sex cells independently of one another. Point mutation: a change in the base sequence of a gene that results from the change on a single base to a different base. Autosomal recessive disease: a disease caused by a recessive allele; one copy of the allele must be inherited from each parent for the disease to develop. Sickle cell disease: an autosomal recessive disease caused by a point mutation in an allele that codes for one of the polypeptide chains of the hemoglobin protein. Insertion mutation: a change in the base sequence of a gene that results from the addition of one or more base pairs in the DNA. Deletion mutation: a change in the base sequence of a gene that results from the loss of one or more base pairs in the DNA. Trinucleotide repeat diseases: a family of autosomal dominant diseases that is caused by the insertion of multiple copies of a three-base pair sequence (CAG) that, which codes for the amino acid glutamine. Typically, the more copies inserted into the gene, the more serious the disease. Ex. Huntington disease X-linked disorders: genetic conditions that result from mutations to genes on the X chromosome. They are almost always expressed in males, who have only one copy of the X chromosome; in females, the second X chromosome containing the normally functioning allele protects them from developing X-linked disorders. Polygenic traits: phenotypic traits that result from the combined action of more than one gene, most complex traits are polygenic. Heritability: the proportion of total phenotypic variability observed for a given trait that can be ascribed to genetic factors. Variability caused by genetics ---------------------------------------------------------Variability caused by genetics + Variability caused by the environment