Ch 4 - Genes and Genetic Diseases
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| What is genetics? | The study of biologic heredity
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| What is a gene? | The basic unit of heredity
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| What is a genome? | DNA representing all of the genes for a given species
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| What are the components of DNA? | A pentose sugar (deoxyribose), a phosphate molecule, and four types of nitrogenous bases.
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| What are nitrogenous bases? | nucleoproteins created from amino acids
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| What are the four nitrogenous bases? | Adenine, Guanine, Cytosine, Thymine
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| Which of the nitrogenous bases are purines? | Adenine and Guanine
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| Which of the nitrogenous bases are pyramidines? | Cytosine and Thymine
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| Which of the nitrogenous bases have a double ring structure? | Purines (A and G)
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| Which of the nitrogenous bases have a single ring structure? | Pyramidines (C and T)
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| DNA has what type of structure? | An antiparallel structure
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| Which nitrogenous bases pair with each other and how many hydrogen bonds are involved in each pair? | A pairs with T (2 hydrogen bonds)
C pairs with G (3 hydrogen bonds)
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| What are proteins made of? | Amino acids
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| How many amino acids are there? | 20
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| How does DNA replication work? | DNA strand untwists and unzips. A single strand acts as a template. DNA polymerase adds the matching base pair to the template strand and proof reads.
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| Describe the process of transcription, what it results in and where it occurs. | RNA is synthesized from the DNA template by RNA polymerase. Results in the formation of mRNA. Occurs in the nucleus. mRNA then leaves the nucleus and moves into the cytoplasm.
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| What is translation? | Process by which RNA directs the synthesis of a polypeptide via interaction with transfer RNA
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| Where is the site of protein sythesis? | The Ribosome
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| How does tRNA interact with mRNA? | tRNA contains a sequence of nucleotides (anticodons)complementary to the triad of nucleotides on the mRNA strand (codons). Codons paired with anticodons by the ribosome which moves along the RNA strand translating it into a polypeptide chain
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| What is a chromosome and what is it composed of? | A chromosome is a temporary but consistent state of DNA. It is composed of two sister chromatids.
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| How many chromosomes do somatic cells contain and what kind of cells are they. | 46 chromosomes (23 pairs). diploid cells
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| How many chromosomes do gametes contain and what kind of cells are they? | 23 chromosomes. haploid cells
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| What is meiosis? | Formation of a haploid cell from a diploid cell.
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| What are autosomes? | The first 22 of the 23 pairs of chromosomes. The two members are virtually identical and are thus said to be homologous.
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| What are sex chromosomes? | The remaining pair of chromosomes. In females it is a homologous pair (xx) and in mails it is a nonhomologous pair (xy)
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| What are the pieces of the chomosome structure? | Short arm
Long arm
Centromere- regioun of attachment for sister chromatids
Telomere- region containing multiple base pairs. shortens with each cell division.
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| What is a karyotype? | An ordered display of chromosomes.
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| What is a mutation? | Any inherited alteration of genetic material
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| Are mutations in somatic cells transmitted to offspring? | No
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| Are mutations in gametes transmitted to offspring? | Yes
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| What is a point mutation? | A single nucleotide base-pair change in DNA
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| What is a mutagen? | An agent known to increase the frequency of mutations
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| What are some examples of a mutagen? | radiation and chemicals
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| What is a silent muation? | A change in DNA sequence that does not change the amino acid sequence of a gene.
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| What is a missense mutation? | A type of mutation that results in a single amino acid change in the translated gene product.
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| What is a nonsense mutation. | A type of mutation in which an mRNA stop codon is produced or removed.
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| What happens in a nonsense mutation if a stop codon is produced? | The protein sequence is terminated prematurely
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| What happens in a nonsense mutation is a stop codon is removed? | An elonged protein sequence is created
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| What is a frameshift mutation? | An alteration of DNA in which an addition or deletion of a base pair occurs. Results in a change in the entire reading frame.
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| What are gain of function mutations associated with? | Autosomal dominant disorders. Cause production of new protein product or overexpression/inappropriate expression of protein product.
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| What are loss of function mutation associated with? | Associated with recessive disorders. Loss of 50% of the protein product. This may or may not be adequate for normal function.
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| What are euploid cells? | Cells that have a multiple of the normal number of chromosomes.
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| What is a polyploid cell? | A euploid cell that has more than the diploid number. examples= triploidy and tetraploidy
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| What is disjunction? | Normla separation of chromosomes during cell division
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| What is nondisjunction? | Failure of homologous chromosomes or sister chromatids to separate normally during meiosis or mitosis. Usually the cause of aneuploidy.
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| What is aneuploidy? | A somatic cell that does not contain a multiple of 23 chromosomes.
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| Is it better to have more genetic informaiton or less? | More. Mutations with less often do not survive although there are still consequences to having more genetic material.
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| What are some physical characteristics of down's syndrome? | mental retardation, low nasal bridge, epicanthal folds, protrouding tonge, poor muscle tone.
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| What is partial trisomy? | Only an extra portion of a chromosome is present in each cell.
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| What is a chromosome mosaic? | Trisomies occuring only in some cells of the body.
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| What is trisomy x? | A female that has three x chromosomes. termed "metafemale". Symptoms may include sterility, menstrual irregularity, and/or mental retardation.
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| What is turner syndrome? | Females having only one x chromosome. Characteristics include absence of ovaries, shor stature, webbing of neck, underdeveloped breasts.
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| What is Klinefelter syndrome? | Individuals wtih at least two x's and one y chromosome. Characteristics include male appearance, development of female like breasts, long limbs, small testes, and sparse body hair.
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| What is a deletion? | Loss of a sequence of DNA from a chromosome
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| What is an inversion? | Chromosomal rearrangement in which a segment of a chromosome is reversed end to end.
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| What is a translocation? | Transfer of one chromosome segment to another
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| What is a ring chromosome? | Telomere of each chromosome arm has been deleted and the broken arms have joined
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| What causes Cri du chat sydrome | Deletion of short arm on chromosome 5.
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Created by:
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