Term
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Definition
| different types of mutations (alleles) at the same disease locus, causing some cases of variable expession |
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Term
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Definition
| centromere is at tip of chromosome; satellite is on short arm (p) |
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Term
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Definition
| mutation where the number of chromosomes is not a multiple of 23; results in monosomy or trisomy |
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Definition
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Term
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Definition
| exchange of genetic material between homologous chromosomes during meiosis (may occur in mitosis) produces recombination |
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Term
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Definition
| study of chromosomes and their abnormalities |
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Term
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Definition
| major mutationin which 1 or more base pairs are deleted, sometimes altering all downstream codons; 3 types: macro/micro, terminal, interstitial |
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Definition
| expression of a gene product in an abnormal location or tissue type |
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Definition
| cell contains a multiple of 23 chromosomes i n its nucleus |
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Term
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Definition
| flourescence in situ hybridization; probes for specifiv chromosomes, regions, and genes; probes tagged with flourescent molecules and detects chromosome rearrangements, abnormal numbers |
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Term
| gain of function mutation |
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Definition
| often result of overexpression of the product or inappropriate expression, produce dominant disorders; may result in a completely novel protein product; heterochronic or extopic expression |
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Term
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Definition
| due to unequal crossing over areas with repeats that don't align properly in prophase I |
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Term
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Definition
| allelic constitution of multiple loci on a single chromosome; "haploid" genotype |
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Term
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Definition
| dark staining chromatin, usually transcriptionally inactive and consists mostly of repetitive DNA (barr body) |
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Term
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Definition
| general function in all cells; a mutation of these could be in all tissues |
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Term
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Definition
| 2 breaks, piece reattached in inverted order |
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Term
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Definition
| usually acrocentric chromosomes, with one arm deleted (p), the other duplicated |
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Term
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Definition
| the ordered display of chromosomes; the images of 22 pairs of autosomes arranged according to length with the sex chromosomes in the right hand corner |
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Term
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Definition
| more than one locus involved |
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Term
| loss of function mutation |
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Definition
| (more common) often seen in recessive diseases, may include loss of chromosome, gene, somatic mutation, mutation altering function, premature stop codon, altered splice sites; mutation results in loss of 50% of protein product, normally remaining prod. sufficient for normal fxn |
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Term
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Definition
| chromosome with centromere towards the middle; arms about equal in length |
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Term
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Definition
| nonsilent base-pair substitution producing a change in a single amino acid; change in codon or generation of a stop codon |
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Term
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Definition
| an aneuploid condition in which a specific chromosome is present in only a single copy, giving the individual a total of 45 chromosomes (turners syndrome- monosomy of X chromosome) |
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Term
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Definition
| change in DNA sequence causing genetic variation |
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Term
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Definition
| most common cause of anueploidy; failure of chromosomes to disjoin normally during meiosis (I or II) results in a gamete either lacking a chromosome or having 2 copies of it |
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Term
| non-reciprocal translation |
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Definition
| transfer of genes from one chromosome to another; nonhomologous chromosome; robertsonian translocation |
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Definition
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| inversion with centromere NOT included (balanced rearrangement |
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Definition
| important characteristic of many genetic diseases; reduced penetrance is an individual who has the genotype for disease but doesnt exhibit the disease phenotype though the disease can be transmitted to the next generation (age dependent pen. is a delay in the age of disease onset |
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Term
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Definition
| inversion with centromere included (balanced rearrngement) |
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Term
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Definition
| presence of a complete set of extra chromosomes in a cell (commmon in plants) |
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Term
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Definition
| normal behaving gene, but can change into an oncogene through mutation |
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Definition
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Term
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Definition
| when breaks occur in 2 different chromosomes & the material is mutually exchanged; results in derivative chromosome, carrier usually unaffected b/c he/she has normal complement of genetic material, offspring may be normal, carry translocation, OR have duplications/deletions of genetic material |
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Term
| Robertsonian Translocation |
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Definition
| 2 acrocentric chromosomes fuse near their centromeres, loss of short arms, individual has 45 chromosomes (all genetic info present; not deletious for carrier) risk of unbalanced gametes of down syndrome |
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Term
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Definition
| offspring either chromosomally normal or have balanced translocation with normal phenotype |
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Term
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Definition
| gametes are unbalanced and offspring may have trisomy 14 or 21, or monosomy 14 or 21 |
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Term
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Definition
| change in DNA sequence in all cells other than germline cells; can lead to cancer |
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Term
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Definition
| tissue specific proteins, unique function; mutation of these results in a disease restricted to tissue |
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Term
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Definition
| chromosomes with centromeres between middle and tip; arms unequal |
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Definition
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Term
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Definition
| loss of one arm; including the tip |
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Term
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Definition
| breakage and reciprocal exchange of segments between non-homologous chromosomes; unbalanced gametes likely |
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Term
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Definition
| the rearrangement causes a gain or loss of chromosomal material |
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Term
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Definition
| rearrangement does not produce a loss or gain of chromosomal material (often don't produce serious health consequences) |
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Term
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Definition
| presence of 92 chromosomes |
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Term
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Definition
| a polyploidy that has been observed in humans; presence of 69 chromosomes in the nucleus of each cell seen in ~1/10000 live births; cells ARE euploid bc chromosome # is multiple of 23, large surplus causes multiple anamolies; most common form is fert. of 1 egg by 2 sperm |
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Term
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Definition
| an aneuploid condition in which the individual has an extra copy of 1 chromosome for a total of 47 chromosomes in each cell (most common trisomy 21= down syndrome) |
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Definition
| genes which prevent cancer |
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Term
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Definition
| regulates cell cycle; inhibit growth |
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Term
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Definition
| repair DNA; maintain genome integrity |
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