Basic Human genetics ( Mendel's rules) and Pedigree
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| When is a recessive genetic trait expressed | recessive genetic traits are expressed when individual is homozygous recessive
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| If C= normal and c= cystic fibrosis...someone with cystic fibrosis would have the genotype ___ | little c , little c
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| An individual that is heterozygous for a recessive disorder ( and do not show the recessive disorder) are called a/an | carrier
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| What does it mean to be homozygous | to have two of the same alleles for a particular trait
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| What does it mean to be heterozygous | to have two different alleles for a particular trait
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| What trait is observed when an individual is heterozygous | the dominant trait
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| What is the only way a person can show a recessive trait | to have two recessive genes for the trait of be homozygous
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| What is the cause and effect of someone with the genetic disorder known as cystic fibrosis | they have a defective transport protein in the cell membrane and make excess mucus causing respiratory failure and digestive problems
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| You will need to know 3 recessive disorders in humans... Name them | Cystic fibrosis, Albinism, and Tay-Sachs disease
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| One of the most common recessive genetic disorders among Caucasians is ? | Cystic fibrosis
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| Which recessive disorder is caused when the genes have an absence of the pigment melanine in the skin, hair and eyes | Albinism
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| Describe the effect of Albinism | white hair, pale skin, and pink pupils.. the skin is very susceptible to UV damage and vision problems result from the lack of pigment
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| What recessive disorder affects people of Jewish descent ( mostly eastern european jewish people) | Tay-Sachs
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| Which genetic recessive disorder has no cure and Death usually occurs by age five from the accumulation of fatty substances in the brain causing mental deterioration | Tay-Sachs
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| If a person has a dominant genetic disorder , what is true about their parents | one of the parents must have a dominant gene and had the disorder
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| what are two genotypes that would give someone a dominant genetic disease (use( A) or( a) for an example) | AA or Aa
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| What genotype would mean that you do not have a dominant genetic disorder ( use( A) or( a) for an example | aa
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| What dominant disorder first appears in affected individuals between the ages of 30 and 50 | Huntington's disease
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| What is true about preventive treatment or cure for Huntington's.? Are Genetic Tests available to detect the dominant gene? | * there is no preventive treatment or cure
* there is a genetic test to detect the dominant allele
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| What happens to a person with Huntington's disease | they have gradual loss of brain function, uncontrollable movements, and emotional disturbance leading to death
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| A person with this genetic disorder has a small body size and limbs that are comparatively short. the head is larger .... it is the most common form of dwarfism | Achondroplasia
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| Name two dominant disorders that you should know | Huntington's disease and Achondroplasia
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| Many times it seems that achondroplasia is because of ________because 75% of people with achondroplasia are born to parent of average size | a new mutation or genetic change
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| A diagram that traces the inheritance of a particular trait through several generations | pedigree
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| Symbol for a male in a pedigree | a square
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| Symbol for a female in a pedigree | a circle
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| If the person in a pedigree has the trait being studied it is shown as_____ | a dark or filled in square or circle depending on the gender
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| How do you show a mating or a marriage in a pedigree | the circle and square are joined by a horizontal line
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| what type of line shows the children of a set of parents | a vertical line connects the parent to the children
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| Roman numbers show _____ and arabic numerals going from left to right show ______ | * generations ( I or II)
* individuals in a certain generation 1,2,3,
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| How a carrier is shown for a particular trait | a circle or square that is half shaded
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| One major clue to a pedigree showing a recessive trait would be | two unaffected parents can have an affected child
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| If a pedigree shows a dominant trait than an unaffected person would have to have a genotype that is | homozygous recessive
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| One major use of pedigrees is to infer ____ from the observation of the families physical trait | infer genotypes from the observation of phenotypes
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