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Sec 11.1

Basic Human genetics ( Mendel's rules) and Pedigree

When is a recessive genetic trait expressed recessive genetic traits are expressed when individual is homozygous recessive
If C= normal and c= cystic fibrosis...someone with cystic fibrosis would have the genotype ___ little c , little c
An individual that is heterozygous for a recessive disorder ( and do not show the recessive disorder) are called a/an carrier
What does it mean to be homozygous to have two of the same alleles for a particular trait
What does it mean to be heterozygous to have two different alleles for a particular trait
What trait is observed when an individual is heterozygous the dominant trait
What is the only way a person can show a recessive trait to have two recessive genes for the trait of be homozygous
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
You will need to know 3 recessive disorders in humans... Name them Cystic fibrosis, Albinism, and Tay-Sachs disease
One of the most common recessive genetic disorders among Caucasians is ? Cystic fibrosis
Which recessive disorder is caused when the genes have an absence of the pigment melanine in the skin, hair and eyes Albinism
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
What recessive disorder affects people of Jewish descent ( mostly eastern european jewish people) Tay-Sachs
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
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
what are two genotypes that would give someone a dominant genetic disease (use( A) or( a) for an example) AA or Aa
What genotype would mean that you do not have a dominant genetic disorder ( use( A) or( a) for an example aa
What dominant disorder first appears in affected individuals between the ages of 30 and 50 Huntington's disease
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
What happens to a person with Huntington's disease they have gradual loss of brain function, uncontrollable movements, and emotional disturbance leading to death
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
Name two dominant disorders that you should know Huntington's disease and Achondroplasia
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
A diagram that traces the inheritance of a particular trait through several generations pedigree
Symbol for a male in a pedigree a square
Symbol for a female in a pedigree a circle
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
How do you show a mating or a marriage in a pedigree the circle and square are joined by a horizontal line
what type of line shows the children of a set of parents a vertical line connects the parent to the children
Roman numbers show _____ and arabic numerals going from left to right show ______ * generations ( I or II) * individuals in a certain generation 1,2,3,
How a carrier is shown for a particular trait a circle or square that is half shaded
One major clue to a pedigree showing a recessive trait would be two unaffected parents can have an affected child
If a pedigree shows a dominant trait than an unaffected person would have to have a genotype that is homozygous recessive
One major use of pedigrees is to infer ____ from the observation of the families physical trait infer genotypes from the observation of phenotypes
Created by: shemehl



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