Class Presentation Questions 12-4 Mutations

  1. The Latin meaning of mutation is “______”.
  2. Define mutation.
  3. ______=mutations that produce changes in a single gene.
  4. ______=mutations that produce changes in whole chromosomes.
  5. A mutation that involves a single nucleotide is called a(an)______.
  6. What is a substitution(gene mutation)? How many nucleotides are usually affected?
  7. What is an insertion or deletion(gene mutation)? What happens to the “reading of nucleotides?
  8. Define frameshift mutation.
  9. List and describe the four types of chromosomal mutations.
  10. Most mutations are neutral. What is meant by this?
  11. Mutations that cause dramatic changes in ______structure or gene activity are often harmful. However, genetic mutations are also the source of genetic ______in species. Some of this variation may be highly beneficial.
  12. Define polyploidy.
  13. How is polyploidy beneficial in plants? What are some example of plants that have benefited from polyploidy?
  14. A codon consists of ______nucleotides.

14-1 Human Heredity

  1. What is the scientific name for humans?
  2. Define karyotype.It contains ______chromosomes; All of which are ______with the exception of one pair…the ______chromosomes;
  3. There are 46 TOTAL chromosomes in a human karyotype. 44 of the chromosomes are called ______. The other two are called ______.
  4. Females have two copies of the ______chromosome. Males have one ______& one ______. How do we represent the normal female human karyotype?______; Male=______;
  5. In humans, the ______determines the sex of the offspring. Prove this with a punnett square using XX & XY cross.
  6. All human egg cells carry ______. However, half of all sperm cells carry ______& half carry ______. This ensures that just about half of the zygotes will be ______& half will be ______.
  7. A human female inherits ______copy (copies) of every gene located on each of the X chromosomes.
  8. Describe six components of a pedigree.
  9. A half shaded circle or square on a pedigree indicates that the organism is a ______for a trait. It is very unlikely to ever see a pedigree with all symbols half shaded!
  10. What is meant by the statement ‘the phenotype of an organism is only partially determined by its genotype?
  11. Environmental effects on genes are not ______, genes are.
  12. Genes may be denied a proper environments in which to reach full expression in one generation. However, these same genes can, in proper environment, ______.
  13. What are the three alleles for the ABO human blood groups? Which ones are co-dominant?**Remember that since there are three alleles for this gene…this is considered a trait determined by multiple alleles!
  14. The Rh blood group is determine by a ______gene with ______alleles- ______& ______. The ______allele is dominant.
  15. If a man with blood type A and a woman with blood type B produce an offspring, what might be the offspring’s blood type? (use a punnet square to show the possibilities);
  16. List the different ABO geneotypes that have the same phenotypes.

(Example: Blood type A: IA i & IAIA)

  1. A person with PKU lacks the enzyme needed to break down ______, an amino acid found in ______& many other foods.
  2. A person who has PKU inherited the ______allele for the trait from both parents.
  3. PKU is caused by an ______rescessive allele carried on chromosome #______.
  4. Tay-Sachs disease, caused by a recessive allele, is found mostly in ______families of central & eastern European ancestory.
  5. What is the result of Tay-Sach’s disease?
  6. ______or dwarfism & ______are examples of genetic disorders resulting from autosomal dominant alleles.
  7. Describe Huntington’s disease.
  8. Sickle cell disease is caused by a ______allele. This disease is commonly found in ______Americans.
  9. What happens to the sickle shaped blood cells within the body? What damage do they cause to the body?
  10. People who are “heterozygous” for the sickle-cell allele are generally healthy. What is an added benefit for being heterozygous for sickle cell anemia?
  11. Sickle-Cell Anemia is cause by-______. It substitutes the amino acid valine for glutamic acid.
  12. People with Sickle-Cell Anemia have low______levels.
  13. Cystic Fibrosis (CF) is common among people whose ancestor are from ______.
  14. Cystic Fibrosis is caused by a recessive allele on chromosome #______.
  15. Describe the symptoms and problems associated with Cystic Fibrosis.
  16. Cystic Fibrosis is caused by a very small genetic change. It is cause by the ______of three bases in the middle of a sequence of protein.
  17. In both Cystic Fibrosis & Sickle-Cell disease, a small change in ______of a single ______affects the structure of a ______, causing a serious genetic disorder.

14-2 Human Chromosomes

1. ______& ______are the smallest human autosomes.

2. Define sex-linked gene.

3. The most common form of color blindness is ______. It is more common in ______than ______.

4. Why are X linked alleles expressed in males EVEN if the alleles are recessive?

5. What must happen genetically for a female to be color blind?

6. The allele for colorblindness is ______and located on the ______chromosome.

7. Alleles found on the same chromosome are “______”.

8. ______is another sex-linked disorder (more common in males than females), where two important genes carried on the X chromosome that help control blood clotting have a missing protein. People with this disorder can bleed to death from minor cuts & bruises.

9. ______is a sex-linked disorder that results in progressive weakening & loss of skeletal muscle.

10. Define nondisjunction.

11. If non-disjunction occurs, abnormal numbers of chromosomes may find their way to ______, & a disorder of ______numbers may result.

12. If two copies of an autosomal chromosome fail to separate during meiosis, an individual may be form with ______copies of a chromosome.

13. ______syndrome or Trisomy 21 is the most common form of trisomy. Describe this disease.

14. In females, non-disjunction can lead to a sex-chromosome disorder called ______syndrome. The female usually inherits only one ______choromosome, & her karyotype would be 45X. Women with this disease are usually ______, which means that they are unable to reproduce.

15. In males, non-disjunction can lead to a sex-chromosome disorder called ______syndrome (karyotype=______).

16. Why hasn’t there been a baby to be born without an X chromosome?

(from section 14-5)

17. The human genome project is an attempt to sequence all human ______.

18. The purpose of gene therapy is to ______genetic disorders.