MDC II – Key Terms & Definitions 1
Module 1
Chapter 6
• Aneuploid: A description of cells with an abnormal number of chromosomes (more or
less than the normal number for the species) or broken chromosomes.
• Carrier: An adult with one mutated allele for a recessive genetic disorder, but either
does not express the disorder or does not fully express the disorder.
• Cellular Regulation: Genetic and physiologic processes that control cellular growth,
replication, diBerentiation, and function to maintain homeostasis.
• Direct-to-consumer genetic testing (DTC-GT): The marketing of genetic testing by for-
profit companies without the involvement of a healthcare professional.
• Dominant Allele: The allele of a single-gene trait is always expressed whenever it is
present, regardless of the nature of the second allele.
• Epigenetics: The changes in gene expression caused by mechanisms that do not
involve variation in actual DNA sequences.
• Euploid: A description of cells having the correct number of chromosome pairs for the
species.
• Expressivity: The degree of expression a person has when a dominant gene allele or a
pair of recessive alleles is present.
• Gene: A segment(s) of DNA that contains the specific code for the correct amino acid
sequence order within a designed protein involved in cellular regulation.
• Gene expression: The selective activation (turning on) of a gene to direct the production
of its specific protein.
• Gene therapy: An experimental technique that uses genes to treat or prevent disease.
• Genetics: The general mechanisms of heredity and the variation of inherited single-
gene traits.
• Genome: The entire set of human nuclear DNA present in nearly all body cells.
• Genomic health care: Using genetic information and technology to prevent or manage
specific health problems.
• Genomics: The function of human DNA, including genes and noncoding DNA regions,
and how this aBects cellular regulation.
• Genotype: The gene alleles a person has for a specific single-gene trait- not just what
can be observed.
• Heritability: Characteristic by which the risk for developing the disorder can be
transmitted to one’s children in a recognizable pattern.
• Karyotype: An organized arrangement of all the chromosomes present in a cell during
the metaphase section of mitosis.
• Microbiome: The genomes of all the microorganisms that coexist in and on a person.
Module 1
Chapter 6
• Aneuploid: A description of cells with an abnormal number of chromosomes (more or
less than the normal number for the species) or broken chromosomes.
• Carrier: An adult with one mutated allele for a recessive genetic disorder, but either
does not express the disorder or does not fully express the disorder.
• Cellular Regulation: Genetic and physiologic processes that control cellular growth,
replication, diBerentiation, and function to maintain homeostasis.
• Direct-to-consumer genetic testing (DTC-GT): The marketing of genetic testing by for-
profit companies without the involvement of a healthcare professional.
• Dominant Allele: The allele of a single-gene trait is always expressed whenever it is
present, regardless of the nature of the second allele.
• Epigenetics: The changes in gene expression caused by mechanisms that do not
involve variation in actual DNA sequences.
• Euploid: A description of cells having the correct number of chromosome pairs for the
species.
• Expressivity: The degree of expression a person has when a dominant gene allele or a
pair of recessive alleles is present.
• Gene: A segment(s) of DNA that contains the specific code for the correct amino acid
sequence order within a designed protein involved in cellular regulation.
• Gene expression: The selective activation (turning on) of a gene to direct the production
of its specific protein.
• Gene therapy: An experimental technique that uses genes to treat or prevent disease.
• Genetics: The general mechanisms of heredity and the variation of inherited single-
gene traits.
• Genome: The entire set of human nuclear DNA present in nearly all body cells.
• Genomic health care: Using genetic information and technology to prevent or manage
specific health problems.
• Genomics: The function of human DNA, including genes and noncoding DNA regions,
and how this aBects cellular regulation.
• Genotype: The gene alleles a person has for a specific single-gene trait- not just what
can be observed.
• Heritability: Characteristic by which the risk for developing the disorder can be
transmitted to one’s children in a recognizable pattern.
• Karyotype: An organized arrangement of all the chromosomes present in a cell during
the metaphase section of mitosis.
• Microbiome: The genomes of all the microorganisms that coexist in and on a person.
