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| Basic unit of genetic information. |
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| The collection of genetic information. |
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| the storage units of genes. |
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location of a gene/marker on the chromosome. |
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| This is defined as one variant form of a gene at a particular locus |
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| At each locus (except for sex chromosomes) there are 2 genes, this constitutes what? |
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| The expression of a genotype is termed what? |
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A genotype with two different mutant alleles (no wild-type allele). |
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| This allele is expressed even if it is paired with a recessive allele (expressed in the homozygous or heterozygous) |
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| This allele is only visible when paired with another recessive allele (it is expressed only in the homozygous) |
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A pair of different alleles is defined as what homozygote or heterozygote? |
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A pair of identical alleles is defined as what homozygote or heterozygote? |
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Which law states that two members of a gene pair segregate from each other into the gametes, so half the gametes carries one member of the pair and the other half carries the other member of the pair |
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| The dominant trait is expressed |
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| Which trait is expressed in the heterozygous state? |
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| This trait is passed from carrier to offspring |
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What is Mendel's 2nd Law about? |
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Different gene pairs assort independently in gamete formation in this law proposed by Mendel |
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| False. This “law” is true only in some cases |
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| True or False, Mendel's 2nd law is always true |
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This law proposed that gene pairs on seperate chromosomes assort independently at meiosis |
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True or False, for two unlinked characteristics, genes are inherited independently
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The gene responsible for eye-color is |
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These have 2 X-chromosomes |
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These have 1 X-chromosome and 1 Y-chromosome |
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| Genetics is concerned with heredity and variation |
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| Genetics is concerned with what 2 things? |
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| This type of genetics is related to practice of medicine and in medical research |
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| This is the study of chromosomes |
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| Molecular and Biochemical genetics |
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| This is the study of structure and function of individual genes |
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| This is the study of the genome, its organization and functions |
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| This is a study of the genetic variation in human populations and the factors that determine the allele frequencies |
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| This form of genetics is where application of genetics is used for diagnosis and patient care |
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True or False, human mating is random and can not be controlled experimentally |
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1. Epidemiological data to provide incidence and prevalence of diseases
2. Analysis of the patterns of transmission within large multigenerational families, with the use of pedigrees |
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| What are the 2 methods employed to analyze patterns of inheritance in humans? |
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| Using DNA to identify people carrying a defective allele |
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| What is genetic screening? |
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Which of the 7 patterns of inheritance do not belong here?
1. Autosomal recessive
2. Autosomal dominant
3. X-linked recessive
4. X-linked dominant
5. Codominant
6. Y- linked recessive
7. Mitochondrial |
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| This is the diagrammed family history |
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1. The mode of inheritance of a disease
2. The recurrence risk, that is the probability that the offspring of a couple will express a genetic disease |
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| The pedigree gives information on what? |
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Type of inheritance that implies the gene is on any chromosome pairs 1-22, except the sex chromosomes and needs two defective alleles at the same locus to cause the disorder. |
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Definition
| Autosomal Recessive Inheritance |
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1. The mode of inheritance of a disease
2. The recurrence risk, that is the probability that the offspring of a couple will express a genetic disease |
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| The pedigree gives information on what two things? |
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1. The mode of inheritance of a disease
2. The recurrence risk, that is the probability that the offspring of a couple will express a genetic disease |
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| What does the pedigree give information on? |
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Term
| Autosomal Recessive Disorders |
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Definition
| This disease appears in male and female children of unaffected CARRIER parents |
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| Autosomal Recessive Disorders |
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Definition
Consanguinity increases the chances of unions between heterozygotes in this type of disorders |
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Term
1. Cystic Fibrosis
2. Sickle Cell Anemia
3. Phenylketonuria
4. Tay-Sachs disease |
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| What are 4 examples of autosomal recessive disorders |
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| False, this new mutation will be passed on to the offspring |
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Definition
| True or false, a new mutation in an unaffected parent during gametogenesis cannot be transmitted to the offspring |
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•Unaffected parents who have affected offspring
•Equal # affected males and females
•If both parents are affected, all the children are affected
•Skipped generations
•Marriages within close family |
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| Autosomal Recessive Pedigree |
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•Cystic fibrosis is the most common genetic cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US.
•The defective gene encodes a Chloride ion channel and found in some specialized epithelial cells |
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Definition
| What is an example of an autosomal recessive disorder? |
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•Class 2 mutations, including the delta F508 mutation, lead to degradation of the protein within the endoplasmic reticulum; thus little or no functional protein is transferred to the cell membrane. |
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Definition
| What class muations are most common in CFTR mutants? |
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Definition
This mutation accounts for 70% of CF genes in the United States and deletion of Phe-508 in the first nucleotide binding domain (?)) in the cystic fibrosis transmembrane conductance regulator (CFTR) causes retention of the mutant protein in the endoplasmic reticulum? |
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Definition
| True or false, the recurrence risk for other offspring for the same parent is very low concerning new mutations |
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Definition
| True or false, concerning new mutations, the recurrence risk for future offspring of the affected individual would be the same as that of any individual who has inherited the disease-causing mutation |
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Term
Autosomal Dominant Inheritance |
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Definition
This inheritance implies the gene is on any chromosome pairs 1-22, except the sex chromosomes and needs ONE defective allele at the same locus to cause the disorder?
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This syndrome is characterized by moderate mental retardation, hypergonadism, small hands and feet, and obesity |
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Affected males and females appear in each generation of the pedigree and affected mothers and fathers transmit the phenotype to both sons and daughters?
Some Examples include:
1. Huntington disease.
2.Achondroplasia
3.Marfan syndrome
4.Familial hypercholesterolemia (LDL receptor deficiency)
5.Neurofibromatosis type I |
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| Phenotype expressed only when the mutation is inherited from the father |
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Definition
| In the Prader- Willi syndriome, the phenotype is expressed only when the mutation is inherited from where? |
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Definition
This phenomenon refers to the fact that a small number of human genes are transcriptionally active only when transmitted by one of the two sexes |
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Definition
| This is defined a pattern of inheritance in which individuals in the most recent generations of a pedigree develop a disease at an earlier onset of age or with greater severity than do those in the earlier generations |
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Definition
•Most common of the reduced stature conditions
•Gain of function mutation in a fibroblast growth factor receptor FGFR3, on Chromosome 4
•The receptor is expressed on resting chondrocytes and restricts chondrocyte proliferation and thus bone growth.
Is a autosomal dominant disorder? |
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Term
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Definition
• Two different versions (alleles) of a gene can be expressed, and each version makes a slightly different protein
•Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
•E.g. ABO locus |
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•Many more males than females show the disorder.
•All the daughters of an affected male are “carriers”.
•None of the sons of an affected male show the disorder or are carriers. 50% inheritance in grandchildren born to daughters.
•Examples
1. hemophilia A or B
2.Duchenne Muscular Dystrophy
3.G6PD deficiency |
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Definition
| Trinucleotide repeat polymorphism causes what? |
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Definition
1-Myotonic Dystrophy: CTG repeats in the 3’UTR of the gene on Chromosome 19.
2-Fragile X Syndrome
3-Huntington Disease
These are all examples of what? |
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Definition
This exists when the same disease phenotype can be caused by mutations at different loci |
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A single disease causing mutation that affects multiple organ systems |
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This is an example of a pleiotrophy |
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| This Syndrome is characterized by a mutation in the gene that encodes Fibrillin, a key component of connective tissue |
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Definition
•The trait is found on the X chromosome
•Females have 2 copies, males only 1
•1 bad copy either dominant or recessive passed on from mom will affect sons
•All sons of affected mothers are affected
•Affected fathers never transmit it to sons, |
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Term
Thin elongated limbs, hypermobile joints, occular abnormalities, cardiovascular disorders (aortic aneurysm) |
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Definition
What are some symptoms of Marfan syndrome? |
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Term
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Definition
•The trait is found on the X chromosome
•Females have 2 copies, males only 1
•1 bad copy either dominant or recessive passed on from mom will affect sons
•All sons of affected mothers are affected
•Affected fathers never transmit it to sons, |
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Term
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Definition
•The trait is found on the X chromosome
•Females have 2 copies, males only 1
•1 bad copy either dominant or recessive passed on from mom will affect sons
•All sons of affected mothers are affected
Affected fathers never transmit it to sons |
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Term
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Definition
Milder form of Duchenne Muscular Dystrophy with In-frame insertions or deletions that produce an aberrant but partially functioning dystrophin.
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| Duchenne Muscular Dystrophy |
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Definition
Mutations in the Dystrophin gene are insertions or deletions and account for this disease? |
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Definition
•Affected males with normal mates pass the disorder to all daughters but to none of their sons.
•Both males and females of a heterozygous mother have a 50% chance of inheriting the disorder. SAME as AD disorders
•For rare phenotypes, affected females are about twice as common as affected males but typically have a milder expression phenotype
•Examples:
Hypophosphatemic Rickets (vit.D resistant Rickets) |
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| Mitochondrial inheritance |
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Definition
•This type of inheritance applies to genes in mitochondrial DNA
•Mitochondrial disorders can appear in every generation of a family and can affect both males and females. Affected mothers pass the disorder to all daughters and sons.
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•E.g. Leber hereditary optic neuropathy (LHON), a rapid irreversible loss of vision in the central visual field begins in the third decade of life. |
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Definition
•affected individuals contain both mutant and normal mitochondria |
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•Inherited only from the mother
•Mitochondrial diseases affect tissue with high energy demands: nerves and muscles.
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Definition
These are exceptions to mendelian rules? |
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•Eye color is determined by more than one gene: True or false.
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Variable degree of phenotypic expression
•Causes
1-Environmental influences
XP is more severely expressed in patients exposed to sun. |
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The presence of different mutations or alleles in the same locus for a given hereditary disorder (Mis-sense mutations in factor VIII gene gives a milder Hemophilia than non-sense mutations)
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•Individuals who carry the disease genotype and do not express it
*As compared to variable expression, the non-penetrant gene has no phenotypic expression at all.
Example:
1-Hemochromatosis, AR, 1/300 of Whites are homozygous for the recessive allele, expressed phenotype 1/1000-2000.
2- Familial breast cancer
3-Retinoblastoma |
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