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Chapter 11
Genetic Basis of Human Life
22
Biology
12th Grade
12/10/2006

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Term
Alleles
Definition
Alternate forms of a gene occuring on the same locus of homologous chromosomes.
Term
Dominant Allele
Definition
Allele with the ability to mask the other allele. Expressed as a capital letter.
Term
Recessive Allele
Definition
Allele that is covered up by the dominant allele in heterozygous genes. Expressed as a lower case letter.
Term
Gene Locus
Definition
Particular location where alleles occur on homologous pairs of chromosomes.
Term
Homozygous
Definition
Two identical alleles.
Term
Heterozygous
Definition
Two different alleles at a gene locus.
Term
Genotype
Definition
Genes of an organism for a particular trait or traits. Often expressed by letters.
Term
Phenotype
Definition
Physical appearence. Outward appearence produced by the genotype. Affected by genotype and environment.
Term
Testcross
Definition
Determines whether an individual with a dominant phenotype is heterozygous or homozygous recessive.
Term
Autosome
Definition
Any chromosome other than a sex chromosome.
Term
Carriers
Definition
Unaffected parents who can have affected children.
Term
Examples of Autosomal Recessive Disorders
Definition
Tay-Sachs Disease, Cystic Fibrosis, Phenylketonuria(PKU).
Term
Autosomal Recessive Disorders
Definition
*Affected children can have unaffected parents.
*Heterozygotes have a normal phenotype.
*Two affected parents will always have affected children.
*Close unaffected relatives are more likely to have affected children if they have joint affected relatives.
*Males and females affected with equal frequency.
Term
Autosomal Dominant Disorders
Definition
*Affective children will have at least one affected parent.
*Heterozygotes are affected.
*Two affected parents can produce unaffected children.
*Two unaffected parents will not have affected children.
*Males and females affected with equal frequency.
Term
Examples of Autosomal Dominant Disorders
Definition
Neurofibromatosis and Huntington Disease.
Term
Incomplete Dominance
Definition
Inheritance pattern in which the offspring has an intermediate phenotype. ex: when a red-flowered plant and a white-flowered plant produce pink-flowered offspring.
Neither allele is completely dominant.
Term
Sickle-cell disease
Definition
Example of a human disorder controlled by incompletely dominant alleles. Red blood cells are sickle-shaped because of abnormal hemoglobin. Can have normal genotype, sickle-cell disease, or sickle-cell traits. SC trait reproduce 1:2:1.
Term
Pleiotropy
Definition
A fene that affects more than one characeristic of the individual. Sickel-cell disease affects persons with poor circulation, anemia, and low resistance to infection.
Term
Multiple alleles
Definition
Gene exists in several allelic forms, but each person usually has only two of the possible alleles. ex: blood type.
Term
Codominance
Definition
Inheritance pattern where both alleles of a gene are equally expressed. ex: AB blood type.
Term
Polygenic Inheritance
Definition
Occurs when a trait is governed by two or more sets of alleles.
Has copy of all allelic pairs, possibly located on many diffenent pairs of chromosomes.
Effect of dominant allel on phenotype is additive. Results in continuous variation of phenotype that resembles a bell shaped curve.
Term
Epistasis
Definition
Occurs when a gene at one locus interferes with the expression of a gene at a different locus. ex: albinos-gene whose product interferes with gene that produces melanin.
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