Anatomy & Physiology 34A Lecture
Chapters 3 & 29 - Heredity
I. Overview
A. Chromosomes, DNA, and Genes
B. DNA Replicates Prior to Cell Division
C. Genetic Inheritance
D. Genes Direct the Formation of Proteins
E. Genetic Mutations
F. Genetic Screening and Treatments
II. Chromosomes, DNA, and Genes
A. ____________ are rod like bodies found mainly in the cell nucleus and composed of
1.
Tightly coiled strands of ______ containing genes , the hereditary material, and
2.
Proteins (mostly __________) that the DNA is coiled around
B. ______ (deoxyribonucleic acid) is double helix molecule composed of nucleotide subunits
1. ____________ include a phosphate group, deoxyribose sugar, and a nitrogenous base
2. DNA Nitrogenous _________ include: a. _____________ - have a double ring structure and include adenine (A) and guanine
(G) b. ______________ - have a single ring and include thymine (T) and cytosine (C)
3. DNA consists of two strands of nucleotides twisted together in a double ___________, like a twisted ladder a. ________-phosphate groups make up the sides of the ladder, and nitrogenous
_________ form the rungs b. Nitrogenous bases are ___________ , meaning that a pyrimidine always forms
___________ bonds with a purine
1) Adenine always bonds with Thymine (___-___)
2) Cytosine always bonds with Guanine (___-___)
C. Functions of DNA include
1. Genes in DNA s tore information needed to build ______ in a cell
2. Genes provide the basis for _____________ in an organism’s offspring. A _______ a. Is a segment of _____ that controls the synthesis of a protein b. Acts as a unit of ____________ that can be transmitted from generation to generation
D. Important _______________ terms include :
1.
______________ - two identical chromosomes joined by a constricted region called a centromere; formed when chromosomes replicate themselves during ______________ of the cell cycle.
2.
_________________ chromosomes - pair of chromosomes that contain ___________ genetic information; one comes from the organism’s mother and the other from its father.
3.
_____________ (2n) - normal number of chromosomes found in ___________ (body) cells a.
Nuclei have ______ of each type of chromosome in homologous pairs b.
Human cells have 2n = _____ chromosomes in _____ homologous pairs c.
Diploid somatic cells are produced by ______________

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4.
__________ (n) - half the diploid number of chromosomes (one from each homologous pair), a.
Found in _____________ (egg & sperm) b.
Human eggs or sperm contain ____ chromosomes each c.
Haploid gametes are produced by ____________
III. DNA replicates itself prior to cell division
A. Two types of cell ________ occur in the body: mitosis and meiosis
1. ____________ - one diploid somatic (body) cell divides into two diploid genetically identical cells a. ___________ (2n) cells have two of each type of chromosome b. A n ormal human cell has ___ _______________ pairs of chromosomes in its nucleus, one of each pair from the mother and one from the father
1) 22 pairs of _____________ and
2) 1 pair of ____ chromosomes (___ in females, ___ in males) c. Mitosis occurs in many body cells during ________ and ______ processes
2. ____________ - one diploid sex cell divides into four haploid ____________ (sperm or eggs) that are not genetically identical a. _________ (n) cells have only one of each type of chromosome b. Meiosis occurs only in the ovaries or ________ for reproductive purposes
B. Mitosis follows interphase in the cell ________
1. ____________
– the cell prepares itself for division during three stages: G1, S, and G2 a.
G
1
stage - chromosomes are ___________ in homologous pairs; cell cytoplasm increases, proteins are synthesized, and organelles double; occurs after telophase. b.
S stage (synthesis) - chromosomes (DNA) replicate (make identical copies of themselves), forming _________________ c.
G
2 stage
– cell cytoplasm increases and ___________ that control cell division are synthesized
2. ____________ (cell division) can be divided into 4 phases: prophase, metaphase, anaphase, and telophase a. __________ – chromosomes coil and become visible; nuclear envelope dissolves ; centrioles migrate to opposite ends of cell; spindle microtubules attach to chromatid
____________ b. ___________
– chromosomes arrange themselves in dyads (identical chromatid pairs) across the ________ (equator) of the cell c. ___________ – centromeres connecting chromatids ________, and individual chromosomes are pulled to ____________ ends of the cell by spindle microtubules d. ________
– nuclear envelopes reform around the chromosomes at opposite ends of the cells; spindle microtubules are disassembled, and the cell divides (___________) into two genetically identical diploid cells
C. _______ replicates when the chromosomes replicate
1.
During ______________, DNA unwinds & “unzips.”

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2.
Helicase unwinds DNA & breaks the _________ bonds between nitrogenous base pairs.
3.
Nucleotides in the nucleus are joined to complementary bases of separated, single
DNA strands by DNA ______________.
4.
Two ______________ DNA double helices result.
5.
Called _____________ replication because each resulting double helix has one parental strand and one new strand.
D. _________ is also preceded by interphase, but the cell goes through ___ stages of cell division to reduce the chromosome number by ___
1. ________________ has the same phases as mitosis, but with some crucial differences: a. In prophase I homologous chromosome pairs come together ( __________ ) and exchange some genetic material ( _____________-over ) b. In metaphase I homologous chromosome pairs assort themselves ________________ in ___________ (not dyads) across the cell center c. In anaphase I homologous chromosome pairs (not chromatids) are ______________
(separated) during anaphase I d. T he end result is two ___________ daughter cells, each with _______ chromosome from each of the homologous chromosome pairs (still in paired chromatids)
2. No ____________________ occurs between meiosis I and meiosis II
3. ________________ phases are more similar to mitosis a. I dentical ____________ are separated into individual chromosomes during anaphase II b. The overall result is 4 haploid _____________ (sperm or egg cells) that are not genetically identical to each other, or to the original cell
IV. Genetic Inheritance
A. A __________ is a photograph of all the chromosomes from a cell arranged by homologous pairs in a fixed order.
B. __________ are alternate forms of a ______ in the same position on a pair of homologous chromosomes, and affecting the same trait.
C. Alleles are represented by paired __________ (e.g.: BB, Bb, bb)
1. __________ allele : gene that controls for a trait that is ________ whether it’s paired with another dominant allele or with a recessive allele. a. _______________ dominant has 2 of the _____ dominant alleles (e.g.: ____). b. _______________ has one dominant and one recessive allele (e.g.: ___). An individual that is heterozygous for a trait is often called a _________ of the trait.
2. ___________ allele: gene that controls a trait that is only evident if the allele is paired with another _________ allele. a. ______zygous recessive has 2 of the ______ recessive alleles (e.g.: ___).
D. Genetic ________ are genotypic and phenotypic
1.
____________ - type of genes an individual has for a particular trait(s) (e.g.: ___ = homozygous dominant; ___ = heterozygous; ___ = homozygous recessive).
2.
___________ - physical or observable characteristics that result from the genotype
(e.g.: brown eyes vs. blue eyes)

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3.
A ________ Square - device used to determine the probabilities of possible genotypes and phenotypes of simple genetic crosses. (Widow’s peak activity) a.
Determine ___________ of P (parental) generation and all possible _________ in their gametes [e.g.: monohybrids are heterozygous (Ww), so gametes would contain a dominant (W) or a recessive (w) allele]. b.
Align all possible combinations of ______ vertically and ____ horizontally (or vice versa). c.
________ egg & sperm alleles in converging _________, then determine probable proportions of genotypes and phenotypes of children (F = filial generation). d.
___________ cross always results in 3:1 phenotypic ratio of offspring. e.
Chance has no memory - each new child has the same ___________ of genotypes
& phenotypes.
E. Autosomal Dominant genetic disorders
1.
Caused by a __________ allele on an autosomal chromosome.
2.
A child and at least one _________ is affected.
3.
Example: _____________ Disease a.
Caused by abnormal gene on chromosome ___. b.
Disease does not usually develop until ___________ age. c.
Causes degeneration of _______ cells; person gradually loses control of muscle function and dies.
4. Do punnett square of autosomal dominant disorder.
F. Autosomal Recessive genetic disorders
1.
Disorder is only present if both alleles for the trait are ________ on homologous chromosomes.
2.
Parents are usually heterozygous ________ of a recessive gene.
3.
Homozygous recessive child is affected but _________ are not
4.
Example: Phenylketonuria (_____) a.
Caused by abnormal gene on chromosome ___. b.
Causes defective _________ to break down phenylalanine. c.
Phenyl_________ accumulate in blood & urine. d.
Newborns are routinely ________ for PKU in hospital. e.
Diet low in _____________ can prevent mental retardation.
5. Do Punnett square of autosomal recessive disorder
G. ______________ Dominance genetic disorders
1. Both alleles are expressed such that _______zygous individuals exhibit an ___________ trait between the dominant and recessive traits
2. Parents of severely affected individuals are often heterozygous _________ of the trait

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3. Example: Familial Hypercholesterolemia (___) a. Caused by an abnormal gene on chromosome ____ b. Causes a defective LDL ________ protein c. ____ can’t be taken into the cell and broken down, thus __________ deposits in arterial walls and causes arteriosclerosis d. Homozygous __________ have very high plasma cholesterol levels, sometimes in excess of _____ mg/dl e. _______zygotes (1 in every 500 births) have high cholesterol levels around ____ mg/dl f. Homozygous _________ have normal cholesterol levels (<___ mg/dl)
4. Do Punnett square of incomplete dominance problem
H. ____-linked genetic disorders are usually associated with the ___ chromosome
1.
Some genes on __ chromosome determine _______ development.
2.
Gene on __ chromosome determines _______ development.
3.
Other traits on sex chromosomes called ____-linked traits .
4.
Alleles on small Y chromosome called __-linked.
5.
Alleles on larger X chromosome called __-linked .
6.
Male receives X-linked condition from his _________
7.
Female must receive recessive alleles from _____ mother and father to express X-linked condition.
8.
X-linked Inheritance Disorder example: _______-Blindness . a.
Color vision ______ are found only on the ___ chromosome, no corresponding genes on the Y chromosome. b.
X B = _________ vision; X b = color _________ c.
X B X B = homozygous female with ________ vision. d.
X B X b = __________ female with normal vision. e.
X b X b = color-_______ female. f.
X B Y = _________ vision male. g.
X b Y = color-______ male.
9.
Do Punnett Square Color-blindness problem
I. Multiple Alleles & Codominance
1.
Within a population, there may be ___ or more ________ that affect the same trait.
2.
Each person still has only ____ of the alleles for the trait.
3.
Example: ______ Blood Types a.
Type A has A antigen on RBC surface; alleles are ___ or ____ (A is dominant). b.
Type B has B antigen on RBC surface; alleles are ___ or ___ (B is dominant).
c.
Type AB has A & B antigens on RBC surface; alleles are ____ ( _____________
= both are equally expressed).

d.
Type O has no antigens on RBC surface; alleles are ____ (recessive alleles).
4. Do Punnett square of how to determine blood type.
J.
Polygenetic inheritance involves traits that are controlled by several genes, and include
1.
Traits such as height, skin color, and intelligence
2.
Some medical disorders, like diabetes and heart disease
V. Genes direct the formation of proteins
A.
Overview (DNA

mRNA

tRNA + A.A.

Protein)
1.
_____ in the nucleus is like a cookbook containing gene “recipes” for proteins.
2.
DNA unwinds at a _______ and the “recipe” is rewritten ( ______________ ) as messenger RNA ( mRNA ).
3.
______ moves from nucleus to cytoplasm and is “clamped” onto the E. R. protein assembly line by _________ (rRNA).
4.
Transfer RNA (_____ ) then brings appropriate amino acid “ingredients” to mRNA
(___________ ) to make the protein.
B.
Structure of _______
1.
Mostly ________-stranded, not helical.
2.
Composed of nucleotides, but has _________ sugar instead of deoxyribose.
3.
Thymine of DNA is replaced by _______ in RNA, thus adenine pairs with uracil in
RNA.
C.
Types of _____ :
1.
______ - carries coded sequence of bases in 3 base _______ from DNA in nucleus to ribosomes in cytoplasm.
2.
______ - major component of ribosomes produced in the nucleolus; ribosomes bind to mRNA during protein synthesis
3.
_____ - carries an __________ specific for its 3 base anticodon to a complementary mRNA codon.
4.
_____________ RNA – made from the antisense strand of DNA; can bind to ______ and prevent its translation into a protein
5.
________RNAs
– small RNAs (miRNAs and siRNAs) that can interfere with mRNA expression, and thus ______________ synthesis
6.
Ribo__________
– RNAs that code for a protein that can switch protein synthesis
____ or _____ in response to metabolic changes, such as changes in amino acid concentration
D.
The Genetic Code
1.
The order of ______ bases ultimately codes for the order of ____________ in proteins.
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2.
The _________ code of four bases supplies 4
3
=___ triplets, more than enough for the
___ amino acids.
3.
A ______ is a “3 letter” unit of 3 nucleotides in mRNA.
4.
All 64 mRNA codons have been determined, as to which _____ _______ will be brought to them (see chart)
5.
___ codons correspond to particular amino acids (usually more than one codon per amino acid)
6.
Three are ______ codons (UAA, UAG, UGA).
7.
One codon (AUG) for methionine is a _______ codon to begin protein synthesis.
E.
Transcription - first stage in protein synthesis: DNA is “__________” to mRNA; occurs in the nucleus
1.
A portion of DNA ( ______ ) unwinds and unzips.
2.
Complementary ______ nucleotides pair with DNA nucleotides of the sense strand , via RNA __________
3.
RNA __________ pairs with DNA adenine.
4.
Resulting mRNA is processed by RNA enzymes to remove _______ (nonexpressed sequences) and leave _____ (expressed sequences).
5.
Processed _____ exits nucleus through nuclear membrane pores to ____________ in cytoplasm.
F.
Translation - second stage in protein synthesis in which the sequence of mRNA nucleotide codons is “____________” into a specific sequence of amino acids brought by tRNA ( in the cell cytoplasm)
1.
Initiation - ______ binds to a ribosome on the E. R.
2.
Elongation a.
______ s with anticodons complementary to mRNA codons bring specific ______
_______ one at a time in the sequence dictated by mRNA. b.
Each new amino acid forms a __________ bond with the previous amino acid to form the polypeptide chain.
3.
Termination - Translation ends when tRNA binds to _______ codon on mRNA; ribosomes dissociate from mRNA.
4.
_____ribosomes are several ribosomes that move along mRNA at one time, thus several polypeptides are made at once.
G.
Review of Gene Expression
1.
_____ in the nucleus contains a triplet code ; each group of 3 bases corresponds to a specific _______ ______

2.
During _____________ , a segment (gene) of DNA serves as a template for the formation of _______ (DNA

mRNA)
3. mRNA carries its sequence of _________ to ribosomes in the cytoplasm
4.
During ___________ , tRNAs with anticodons complementary to the mRNA codons bring specific ______ _____ to the mRNA
5.
The linear sequence of the _____ codons determines the order of amino acids in the resulting polypeptide.
VI. Mutations alter the sequence of DNA
A. A ________ mutation is a change in one ___________ of DNA, due to a deletion, addition, or substitution of a base
B. Mutations can cause a change in a ______ product, which could be minor, or result in something that can kill the cell or organism
C. ____________ are factors that cause mutations, such as harmful chemicals and ionizing radiation
D. Mutations that occur in the DNA of the ____________ can be passed on to children that result from fertilization
E. ___________ mutations occur in body cells, and can spread in the body as mitosis occurs
F. _______________ may result from genetic mutations
1. Genetic _____________ can be caused by a. _______________, in which inherited genes make one more prone to certain types of cancer b. ______________ factors, such as ionizing radiation, pollutants, and __________ can lead to mutations c. _______ high in red meats, fats, nitrites, and low in fiber, fresh fruits and vegetables can cause mutations c. ______________ habits, such as smoking and drinking alcohol can lead to mutations, whereas regular, moderate exercise has a protective effect
2.
_______-oncogenes are normal genes that code for proteins that regulate cell growth, cell division, and cell adhesion a. ______________ is a natural cell death that occurs when cells become worn out, but mutations can cause cells to become “immortal” b. Mutations in proto-oncogenes can cause them to become _________ that cause uncontrolled mitosis, also known as ______
3. Tumor ______________ genes produce proteins that suppress abnormal cell division a. Mutations in these genes prevent the formation of cell division suppressing
_____________, thus cells continue to divide b. __________ are often responsible for cancerous mutations in proto-oncogenes and tumor suppressor genes
4.
Malignant tumors ___________ - cancer cells migrate to other areas of body via blood or lymph systems and start new cancer tumors ( ___________ tumors don’t metastasize)
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VII. Genetic Screening, Counseling, & Therapy
A.
Genetic __________ involves tests for abnormal chromosome numbers and genes, which can occur before conception, by carrier recognition, or during fetal testing
B.
Pedigrees and blood tests are ways of identifying ___________ of harmful genes
1.
A _________ traces a genetic trait through several generations to determine if a member of the family might be affected by the trait
2.
________ tests can be used to screen for genetic disorders, such as sickle cell anemia, and for _______ tests to detect defective genes
C.
_________ testing procedures include amniocentesis and chorionic villus sampling
1.
In _______________ , a needle is inserted through a mother’s uterus into her fetus’ amniotic sac to remove some amniotic fluid, which contains fetal _______ that can be examined for genetic abnormalities
2.
Chorionic _________ sampling suctions off bits of placental material, which also contains fetal cells that are examined
3.
Both of these procedures pose a slight health ________ to the fetus and mother
D.
Gene ____________ is a relatively new type of treatment for some genetic disorders
1.
___________ that contain healthy genes can be inserted into cells with defective genes
2.
“Corrected” _______ can be injected into patients’ cells
3.
These approaches have had __________ results, but hold great promise for future treatments of genetic disorders