Term
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Definition
Purines : Adenine and guanine
(create double ring structure)
Pyrimidines:
cytosine and thymine (single ring structure) |
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Term
| What are chromosomes composed of? |
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Definition
| two longitudinal sister chromatids |
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Term
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Definition
| temporary but consistent state of DNA. The structure changes by unwinding. In resting cell, you cannot see distinct chromosomes because it is compact. |
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Term
| What is the different between the bases of DNA and RNA? |
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Definition
| RNA doesn't have thymine, they have uracil instead |
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Term
| How many DNA base pairs per human cell |
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Definition
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Term
| How many genes does the human genome contain |
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Definition
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Term
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Definition
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Term
| What does DNA encode for? |
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Definition
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Term
| What happens 1st with DNA replication? |
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Definition
| Unzipping of the DNA strand, one strand acts as template |
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Term
| What happens 2nd with DNA replication? |
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Definition
complementary base pairing by DNA polymerase.
Adenine- thymine, cytosine-guanine |
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Term
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Definition
| Process by which RNA is synthesized from DNA template via RNA polymerase that results in formation of mRNA |
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Term
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Definition
| process by which RNA directs the synthesis of a polypeptide this occurs in the ribosome via interaction with transfer RNA. |
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Term
| Site of protein synthesis? |
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Definition
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Term
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Definition
| sequence of nucleotides (anticodon) complementary to the triad of nucleotides on the mRNA strand (codon) |
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Term
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Definition
| moves along the mRNA sequence to translate the amino acid sequence? |
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Term
| What happens during translation? |
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Definition
| mRNA is made and moves into the cytoplasm, then moves into the ribosome to make complimentary base pairs to make polypeptide chains, which make up proteins. |
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Term
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Definition
Contain 46 chromosomes (23 pairs)
are diploid cells |
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Term
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Definition
| 2 sets of chromosomes, 46 total. |
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Term
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Definition
contain 23 chromosomes
Haploid cells |
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Term
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Definition
| One member of each chromosome apir. |
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Term
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Definition
| formation of haploid cells from diploid cells |
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Term
| Diploid number in humans? |
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Definition
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Term
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Definition
| the first 22 of the 23 pairs of chromosomes in males and females. Two member are virtually identical and thus said to be homologous |
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Term
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Definition
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Term
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Definition
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Term
| What makes up the 46 chromosomes? |
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Definition
| 44 autosomes and then 2 sex chromosomes. |
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Term
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Definition
| Alteration of genetic material |
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Term
| Base Pair substitution? (sometimes called mis-sense mutation) |
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Definition
| One base pair is substituted for another; may result in change in amino acid sequence not always. |
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Term
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Definition
| DNA sequence change that does not change the amino acid sequence of a gene. Doesn't result in an amino acid change. |
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Term
| What mutations are passed onto offspring? |
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Definition
| Mutations in somatic cells are not passed onto gametes, only mutations in gametes cells can be passed onto offspring. |
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Term
| What is more common, a mutation or a snip? |
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Definition
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Term
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Definition
| Everything is normal, there is a variation in the sequence of bases. |
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Term
| What is a point mutation? |
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Definition
| single nucleotide base pair change in DNA |
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Term
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Definition
| Type of mutation that results in a single amino acid change in the translated gene product (May or may not cause change in protein encoded) |
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Term
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Definition
(WHEN A STOP CODON HAPPENS EARLY, OR A STOP CODON IS TAKEN AWAY RESULTING IN TOO LONG OF A POLYPEPTIDE STRAND)
Mutation in which an mRNA stop codon is...
produced, resulting in premature termination of the protein sequence of....
removed resulting in an elongated protein sequence (so protein is a lot longer than it should be) |
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Term
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Definition
Cells that have multiple of the normal number of chromosomes
haploid and diploid cells are euploid forms |
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Term
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Definition
| When a euploid cell has more than the diploid number |
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Term
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Definition
| A zygote having three copies of each chromosome rather than the usual two. 69 chromosomes |
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Term
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Definition
| four copies of each (92 total) |
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Term
| **** triploid and tetra ploid fetuses don't survive. |
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Definition
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Term
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Definition
| Somatic cell that does not contain a multiple of 23 chromosomes. |
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Term
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Definition
| A cell containing three copies of one chromosome |
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Term
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Definition
| the presence of only one copy of any chromosome |
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Term
| Can infants survive with monosomy or trisomy? |
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Definition
| Yes, with trisomy, not monosomy. It's better to have more than less. |
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Term
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Definition
| Example of aneuploidy (trisomy 21) |
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Term
| 5 clinical manifestations of down syndrome |
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Definition
-Mentally challenged
-Low nasal bridge
-Epicanthal folds
-protruding tongue
-Poor muscle tone |
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Term
| 3 down syndrome causes increased risk for... |
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Definition
-Congenital heart disease
-Gastrointestinal disease
-Leukemia |
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Term
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Definition
More severe than trisomy 21
Results in death in early infancy |
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Term
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Definition
| only an extra portion of a chromosome is present in each cell |
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Term
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Definition
| Trisomies occurring only in some cells of the body |
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Term
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Definition
| This is a female that has three X chromosomes |
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Term
| three symptoms of trisomy X |
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Definition
-Serility
-Menstrual irregularity
-Mental retardation
(symptoms become worse with more X's) |
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Term
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Definition
| Females with only one X chromosome |
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Term
| 6 Results of Turners Syndrome |
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Definition
-Sterile (no ovaries)
-Short Stature
-Webbing of neck
-Edema
-Underdeveloped breasts
-High number of aborted fetuses |
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Term
| Where is extra X inherited during turners syndrome? |
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Definition
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Term
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Definition
| Individuals with at least two x's and one Y chromosome (abnormalities increase with each additional X) |
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Term
| 5 characteristics of Klinefelters Syndrome |
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Definition
-Male appearance
-Develop female like breasts
-Small testes
-Sparse body hair
-Long limbss |
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Term
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Definition
| chromosomal rearrangement in which a segment of a chromosome is reversed end to end. |
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Term
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Definition
| transfer of one chromosome segment to another |
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Term
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Definition
| Structurally abnormal chromosome in which the telomere of each chromosome arm has been deleted and the broken arms have been joined. |
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Term
| What happens when a chromosome break occurs? |
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Definition
| physiologic mechanism usually repairs the break, but the break often heals in a way that alters the structure of the chromosome. |
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Term
| Three things that cause chromosome break? |
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Definition
| virus, ionizing radiation, chemicals |
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Term
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Definition
| repeated gene or gene sequence |
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Term
| Is it better to have more or less genetic material? |
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Definition
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Term
| Duplication in the same region as cri du chat causes? |
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Definition
| mental retardation but no physical abnormalities |
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Term
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Definition
| Two breaks on a chromosome, reversal of the gene order. |
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Term
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Definition
| occurs from a breakage that gets reversed during reattachment. |
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Term
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Definition
| interchanging of material between non homologous chromosomes |
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Term
| When does translocation occur? |
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Definition
| when two chromosomes break and the segments are rejoined in an abnormal arrangement |
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Term
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Definition
| areas of chromosomes that develop distinctive breaks or gaps when cells are cultured. No apparent relationship to disease. |
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Term
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Definition
| Site on the long arm of the X chromosome; associated with mental challenges, second in occurrence to down syndrome. |
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Term
| What sex does fragile x syndrome occur in more? |
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Definition
| males, because they only have one X |
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Term
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Definition
| location occupied by a gene on a chromosome |
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Term
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Definition
Alternation version of a gene at a locus
each individual possesses two allels of a given gene. |
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Term
| Homozygous vs. heterozygous |
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Definition
possessing identical alleles of a given gene
possessing two different alleles of a given gene |
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Term
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Definition
| locus that has two or more alleles that occur with appreciable frequency |
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Term
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Definition
| Genetic makeup of an organism (what they have) |
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Term
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Definition
| Observable, outward appearance of the genetics of an organism ( what they demonstrate) |
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Term
| What must a persons "genotype" be in order to demonstrate a recessive disease? |
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Definition
| Must contain a pair of recessive genes. Ss (sickle cell carrier) ss ( sickle cell anemia) |
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Term
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Definition
| probability that parents of a child with a genetic disease will have yet another child with the same disease |
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Term
| Recurrence risk of autosomal dominant trait? |
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Definition
| when one parent is affected by autosomal dominate disease and the other is normal, the occurrence and recurrence risk for each child are one half |
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Term
| Autosomal dominant disorder? |
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Definition
| Abnormal allele is dominant, normal allele is recessive and the genes exist on a pair of autosomes |
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Term
| Three characteristics of autosomal dominant disorders |
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Definition
-expressed equally in males and females
-Approx. half of children of an affected heterozygous individual will express the condition
- Doesn't skip generations |
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Term
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Definition
| The percentage of individuals with a specific genotype who also express the expected phenotype. |
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Term
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Definition
| individuals who has the gene for a disease but does not express the disease. Retinoblastoma (eye tumor in children) demonstrates incomplete penetrance (90%) |
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Term
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Definition
| The variation in phenotype associated with a particular genotype. |
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Term
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Definition
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Term
| Autosomal recessive disorder |
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Definition
| abnormal allell is recessive and a person must be homozygous for the abnormal trait to express the disease. This trait usually appears in children, not the parents, and it affects the genders equally because it presents on a pair of autosomes |
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Term
| Recurrence risk of an autosomal dominant trait? |
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Definition
| When two parents were carriers of an autosomal recessive disease, the occurance and recurrence risk for each child are 25% |
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Term
| Autosomal Recessive disorders? |
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Definition
-expressive equally in male and females
-affected individuals most often the offspring of asymptomatic heterozygous carrier parents.
-indv. must be homozygous for the condition to be expressed
-generational skipping may be present
-Consanguinity may be present |
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Term
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Definition
| the insertion or deletion of one or more base pairs to the DNA molecule. Everything on the amino acid code following the mutation is altered. (the worst mutation) |
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