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26 Cards in this Set
- Front
- Back
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structural genes
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genes that contain the information to make a protein
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regulatory genes
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guide the expression of structural gene, without coding for a protein themselves
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genotype
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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
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phenotype
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an observable or measurable feature of an organism. phenotypes can be anatomical, biochemical or behavioral.
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ABO blood type system
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refers to the genetic system for one of the proteins found in the surfce or red blood cells. consists of one gene with three alleles: A,B, and O
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recessive
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in a diploid organism, refers to an allele that must be present in two copies (homozygous) in order to b expresses
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dominant
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in a diploid organism, an allele that is expresses when present on only one pair of homologous chromosomes
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co-dominant
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in a diploid organism, two different alleles of a gene that are both expressed in a heterozygous individual
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particulate inheritance
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the concept of heredity based in the transmission of genes (alleles) according to mendelian principles.
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mendel's law of segregation
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the two alleles of a gene found on each of a pair of chromosomes segregate independently of one another into sex cells
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mendel's law of independent assortment
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genes found on different chromosomes are sorted into sex cells independently of one another
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linkage
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genes that are found on the same chromosomes are said to be linked. the closer together two genes are on a chromosome, the greater the linkage and the less likely they are to be separated during crossing over
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point mutation
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a change in the base sequence of a gene that results from the change of a single base to a different base.
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sickle cell disease
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an autosomal recessive disease caused by a point mutation in an allele that codes for one of the polypeptide chains of the hemoglobin protein
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autosomal recessive disease
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a disease caused by a recessive allele; one copy of the allele must be inherited from each parent for the disease to develop
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insertion mutation
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a change in the base sequence of a gene that results from the addition of one or more base pairs in the DNA.
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deletion mutation
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a change in the base sequence of a gene that results from the loss of one or more base pairs in the DNA
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trinucleotide repeat diseases
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a family of autsomal dominant diseases that is caused by the insertion of multiple copies of a three-base pair sequence that codes for the amino acids glutamine. typically, the more copies inserted into the gene, the more serious the disease
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autosomal dominant disease
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a disease that is caused by a dominant allele: only one copy needs to be inherited from either parent for the disease to develop.
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x-linked disorders
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genetic condition that result form the mutations to genes on the x-chromosomes. they are almost always expressed in males, who have only one copy of the x-chromosomes; in females the second x chromosome containing the normally functioning allele protects them from developing x-linked disorders.
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qualitative variation
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phenotypic variation that can be characterized as belonging to discrete, observable categories
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quantitative variation
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phenotypic variation that is characterized by the distribution of continuous variation (expressed using a numerical measure) within a population (for example, in a bell curve)
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polygenic traits
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phenotypic traits that result from the combined action of more than one gene; most complex traits are polygenic
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pleiotropy
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the phenomenon of a single gene having multiple multiple phenotypic effects.
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heritability
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the proportion of total phenotypic variability observed for a given trait that can be ascribed to genetic factors
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phenylketonuria
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autosomal recessive condition that leads to the accumulation of large quantities of the amino acids phenylalanine, causing mental retardation and other phenotypic abnormalities
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