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48 Cards in this Set
- Front
- Back
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Alleles |
Jean at a particular locus can take on different forms |
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Diploid |
Meaning that chromosomes occur in pairs |
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Epigenetics |
Study of changes in organisms due to modifications in there chromosomes |
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Euploid |
Cells that have a multiple of the normal number of chromosomes |
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Expressivity |
The extent of variation in phenotype associated with a particular genotype |
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Gametes |
Sperm and egg cells |
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Gametogenesis |
The process by which cells undergo division and duplication to form mature haploid cells |
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Genomic imprinting |
is the epigenetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. |
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Genomic |
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) |
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Genotype |
Composition of genes at a given locus |
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Phenotype |
The outward appearance of an individual which is the result of both genotype and environment |
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Haploid |
Cells that have only one member of each chromosome pair giving them a total of 23 chromosomes |
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Penetrance |
Is the percentage of individuals with a specific genotype also exhibit the expected phenotype |
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Polyploid |
When a euploid cell has more than the diploid number of chromosomes |
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Aneuploid |
Those cells that do not contain a multiple of 23 chromosomes |
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Non-disjunction |
And air in which homologous chromosomes or sister chromatids fail to separate normally during Meiosis or mitosis |
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Progeny |
Descendants or offspring |
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Translocation |
The interchanging of genetic material between nonhomologous chromosomes |
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Concordant trait |
Both members of a twin pair share a trait such as cleft lip and it is said to be concordance rate |
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Discordant trait |
If a set of twins does not share the same trait |
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Congenital disease |
Diseases that are present at birth |
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Dizygotic tein |
Fraternal |
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Monozygotic twin |
Identical |
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Gene-environment interaction |
When a genetic predisposition interacts with an environmental factor to increase the risk of disease |
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Empirical risk |
Risks based on direct observation of data |
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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 |
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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 |
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Multi-factorial trait |
When environmental factors are also believed to cause variations in the crate |
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Phocomelia |
Severely shortened limbs |
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Polygenic |
Many genes |
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Prevalence rate |
The proportion of the population affected by disease at a specific point in time |
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Quantitative trait |
Those traits such as blood pressure better measured on a continuous numeric scale |
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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 |
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Threshold of liability |
For diseases that are either present or absent a threshold must be crossed before the disease is expressed |
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Angleman syndrome |
The same 4-Mb deletion when inherited from the mother, which is characterized by severe mental retardation, seizures, and an ataxic gate |
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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 |
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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 |
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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 |
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Epigenetic |
The study of heritable changes in gene expression or phenotype caused by mechanisms other than changes in DNA sequences |
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Epigenetic transgenerational inheritance |
The hereditary transmission of epigenetic changes to successive generations |
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Histone modification |
Chromatic compaction and organization help to regulate gene expression, determining and maintaining cell identity |
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Housekeeping Gene |
A small percentage of genes that are necessary for the function and maintenance of all cells |
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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 |
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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 |
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Oncomirs |
MicroRNAs regulate diverse signaling pathways, and those that stimulate cancer development and progression |
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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 |
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Russell-Silver syndrome |
Characterized by growth retardation, proportionate short stature, leg length discrepancy, and a small, triangular shaped face. |
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Hhs |
Hhh |
