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48 Cards in this Set

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Jean at a particular locus can take on different forms


Meaning that chromosomes occur in pairs


Study of changes in organisms due to modifications in there chromosomes


Cells that have a multiple of the normal number of chromosomes


The extent of variation in phenotype associated with a particular genotype


Sperm and egg cells


The process by which cells undergo division and duplication to form mature haploid cells

Genomic imprinting

is the epigenetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner.


a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes (the complete set of DNA within a single cell of an organism)


Composition of genes at a given locus


The outward appearance of an individual which is the result of both genotype and environment


Cells that have only one member of each chromosome pair giving them a total of 23 chromosomes


Is the percentage of individuals with a specific genotype also exhibit the expected phenotype


When a euploid cell has more than the diploid number of chromosomes


Those cells that do not contain a multiple of 23 chromosomes


And air in which homologous chromosomes or sister chromatids fail to separate normally during Meiosis or mitosis


Descendants or offspring


The interchanging of genetic material between nonhomologous chromosomes

Concordant trait

Both members of a twin pair share a trait such as cleft lip and it is said to be concordance rate

Discordant trait

If a set of twins does not share the same trait

Congenital disease

Diseases that are present at birth

Dizygotic tein


Monozygotic twin


Gene-environment interaction

When a genetic predisposition interacts with an environmental factor to increase the risk of disease

Empirical risk

Risks based on direct observation of data

Incidence rate

The number of new cases of a disease reported during a specific period Typically one year divided by the number of individuals in the population

Liability distribution

The explanation used when a disease is either present or absent in an individual yet they do not follow the inheritance pattern expected of a single gene disease

Multi-factorial trait

When environmental factors are also believed to cause variations in the crate


Severely shortened limbs


Many genes

Prevalence rate

The proportion of the population affected by disease at a specific point in time

Quantitative trait

Those traits such as blood pressure better measured on a continuous numeric scale

Relative risk

A common measure of the specific effect of a specific risk factor.

Incidence rate of the disease among individuals exposed to a risk factor / incidence rate of the disease among individuals not exposed to a respect

Threshold of liability

For diseases that are either present or absent a threshold must be crossed before the disease is expressed

Angleman syndrome

The same 4-Mb deletion when inherited from the mother, which is characterized by severe mental retardation, seizures, and an ataxic gate

Beckwith-Wiedemann syndrome

Is usually identifiable at birth because of large size for just stational age, neonatal hypoglycemia, a large tongue, creases on that your lobes, and omphalocele

DNA methylation

The attachment of a methyl group to a cytosine base is followed by a guanine base. Causes a gene to become transcriptionally in active for silent

Embryonic stem cell

And early development of an embryonic cell that is said to have the potential to become any type of cell in the fetus or adult


The study of heritable changes in gene expression or phenotype caused by mechanisms other than changes in DNA sequences

Epigenetic transgenerational inheritance

The hereditary transmission of epigenetic changes to successive generations

Histone modification

Chromatic compaction and organization help to regulate gene expression, determining and maintaining cell identity

Housekeeping Gene

A small percentage of genes that are necessary for the function and maintenance of all cells

Micro-ribonucleic acid (miRNA, miR)

RNAs that are encoded by short DNA sequences approximately 22 nucleotides located in introns of genes or transcribed from non-coding DNA located between genes

Non-coding RNA (ncRNA)

Has been shown to regulate gene expression by novel mechanisms such as RNA interface, Gene Co-suppression, gene splicing, imprinting, and DNA demethylation


MicroRNAs regulate diverse signaling pathways, and those that stimulate cancer development and progression

Prader-Willi syndrome

Deletion of about 4 million base pairs (Mb) of the long arm of a chromosome 15. Characterized by short stature, hypotonia, small hands and feet, obesity, mild to moderate mental retardation, and hypogonadism

Russell-Silver syndrome

Characterized by growth retardation, proportionate short stature, leg length discrepancy, and a small, triangular shaped face.