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92 Cards in this Set

  • Front
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After Mendel, biologists developed the chromosomal theory of inheritance, explain this theory
genes have specific loci(positions) along chromosomes and it is the chromosomes that undergo segregation and indpendent assortment
genes have specific loci along chromosomes and it is the chromosomes that undergo segregation and indpendent assortment
chromosmal theory of inheritance
how are chromosomes and mendel's factors relate to each other?
chromosomes and genes are both present in pairs in diploid cells
homologous chromsomes separate and alleles segregate during meiosis
Fertilization restores the apired condition for both chromosomes and genes
who was the first to associate a specific gene with a specific chromosome in the early 20th C?
Thomans hunt morgan
Thomas Hunt Morgan:
was the first to associate a specific gene with a specific chromosome in the early 20thC
normal character phenotype?
wild type
alternative traits from the wild type are called
mutant phenotypes
what did Morgan discover?
gene with white-eyed mutation is only on the X chromsoome for fruit flies.
Genes on sex chromsomes are called
sex-linked genes
chromsomes other than sex chromosomes are called
autosomes
genes found together on an autosome are called
linked genenes
sex-linked genes:
genes on sex chromosomes are called
autosomes:
chromosomes other than sex chromsomes
linked genes
genes foudn together on an autosome
production of offpsring with new combinations of traits inherited from two parents is. .
gentic recombination
results of crosses with linked genes deviate from those expected according to. . . .
independent assortment
what two things produce genetic recombinants?
independent assortment of chromosomes and crossing over
Genetic recombination can result from indepndent assormtnet of genes located on
nonhomologous chromsomes
genetic recombination can result from crossing over of genes located on
homologous chromsomes
parental phenotypes
phenotypes that match the original parents
phenotypes that match the original parents
parental phenotypes
A cross between an F1 plant and a homozygous recessive plant produces how many different phenotypes?
4
A cross between an F1 plant and a homozygous recessive plant produces what phenotypes?
2 parental phenotypes and 2 recombinant phenotypes
50 % frequency of recombination is observed for any two genes located on. . .
nonhomolougs chromosomes
In unlinked genes genes tend to move in what way during meiosis?
random orientation of homologous chromsomes at metaphase 1 of meiosis
the orientation of the tetrad between character and trait for an unlinked gene is that they. .
have no influence on the other. the shape of a plant has no influence on the color of it
Linked genes move how in meiosis?
they move together through meiosis and fertilization
In unlinked genes we would expect how many different combinations of alleles?
4
In linked genes we would expect hwo many different combinations of alleles?
2
If most of the offprsing had parental phenotypes we would expect what?
linkage between genes
If you know there is linkage between genes then that suggests what about the offspring genes?
that there is linkage between genes
If genes are completely linked what would the Pheno ratio be?
1:1:0:0
how many and what are the sex chromosomes in humans and mammals
2, X and Y
An individual who inherits two X Chromosomes usually becomes
a female
An individual who inherits one X and one Y usually becomes
a male
Y and X chromosomes behave as what kind of chromosomes during meiosis?
homologous chromsomes in meiosis
Y and X chromosomes are only partially . . .
homologous and rarely undergo crossing over
when do signs of embroy's sex appear?
two months
SRY gene. .
sex determining region of the Y chromosome.
In individuals with the SRY gene what happens?
embroyonic gonads are modified into testes
What is one hypothesis about how the Y chromosome came about?
Z and Y were originally a pair of identical autosomes (same size carrying the same genetic mateiral) Then 300 million years ago a chance mutation suddenly occured on the Y, mutating the SOX3 gene to the SRY gene, It is at this point that the Y chromsome took on the sex determinnig role for maleness. The X retained the numutated SOX3 gene and sex chromsomes emerged
in individuals lacking the SRY gene what happens?
embroyonic gonads turn into ovaries
hemizygous means. . .
only one type of chromosomes like how males only carry one X chromsome
Duchenne muscular dystrophy
sex linked human disorder. Affects 1 on 3500 males born in U.S. they rarely live past their early 20s. This disorder is due to the absense of an X-linked gene for a muscle protein called dystrophin.
dystrophin
muscle protein that links the yctoskeleton of a musle fiber to the extracellular matrix.
Hemophillia
sex linked disorder, recessive trait defined by the absense of oen ore more clotting factors. These proteins numrallyh slow and then stop bleeding but with hemophillacs they have prolonged bleeding due to lack of clotting.
Although female mamals inherit two X chromsomes. .
only one is active
Do males and females have the same effective dose of genes on the X chromsome?
yes because females have one inactive X chromsome
During female development, one X chromsome per cell condenses into a compact objected called a
barr body
Barr body
when one X chromosome in each female cell condenses into a compact object
Explain how only one female X chromsome is active
during female development one X chromsome per cell condenses into a compact object called a barr body, this compaction inactivates most of it's genes.
Who discovered that the selection of which X crhomsome to form the Barr body is random and independent?
Mary Lyon
Mary Lyon. .
British gentiticist, discovered that the selection of which X chromosome that forms into a Barr body is random and independent
"Females consist of a mosaic of cells" means. .
that one female X gene comes from the father (paternal X) and one X gene comes from the mother (maternal X)
What determines the inactive X for all decendent cells?
the Barr body formation
occurs when problems with the meiotic spindle cause errors in the chromsome structure or number of chromsomes each daughter cell receives
nondisjuction
nondisjuction
errors in the chromsome structure or number of chromosomes each daughter cell receives
if tetrad chromsomes do not eparate properly during meiosis I what may occur?
nondisjuction
when one daughter cell ends up with all four chromatids of the two homolgues at the end of meiosis I and the other daughter cell has no chromsomes for that homologue then what may occur?
nondisjuction
if sister chromatids failt o separate during meiosis II what may occur?
nondisjuction
when some gametes receive two of the same type of chromsome and another gamete receives no copy then what happened?
nondisjuction
aneuploidy
offspring that result from fertilization of a normal gamete with one after nondisjuction. This offspring will have an abnormal chromosome number
offspring that result from fertilization of a normal gamete with one after nondisjunction will have an abnormal chromsome number
aneuploidy
trisomic cells
have three copies of aparticular chromsome type and have 2N + 1 total chromosomes
have three copies of a particular chromsome type and have a 2N + 1 total chromomes
trisomic cells
monosomic cells
have only one copy of a particular chromome type and have 2N - 1 chromsomes
have only one copy of a particular chromosome type and have 2N - 1 chromsomes
monosomic cells
If the organism survives after having only one copy of a particular chromosome type then it will usually lead . . .
to a distinct phenotype
Organisms with more than two complete sets of chromosomes have undergone. .
polypoidy
polypoidy
organisms with more than two complete sets of chromsomes have undergone this
what is relatively common among plants and much less common among animals?
polypoidy
what are more nearly normal in phenotype than aneupolids?
polypoids
polyploids are more nearlly normaly normal in phenotype than
aneuploids
Break of a chromosome can lead to four types of changes in chromsome structure
deletion
duplication
inversion
translocation
deletion
occurs whena chromsome fragment lacking a centromere is lost during cell dvision
occurs when a chromsome fragment lacking a centromere is lost during cell division
deletion
duplication
occurs when a fragment becomes attached as an extra segment to a sister chromatid
occurs when a fragment becomes attached as an extra segment to a sister chromatid
duplication
inversion
occurs when a chromosomal fragment joins a nonhomologous chromsome
occurs when a chromosomal fragment joins a nonhomlogous chromsome
inversion
Down syndrome
aneuploid condition, due to three copies of chromsome 21. affects about one in 700 children born in U.S. Most cases of down syndrome result from nondisjuction during gamete production in one parent
frequency of down syndrome increases with the age of the woman bc the probably of trisomies of other chromsomes also increases with amternal age
Klinefelter's syndrome
XXY male, occurs once in ever 2000 live births. have male sex organs but are sterile, may have some feminine characteristics and have diminished mental capacity but may appear normal. Exhibit Barr bodies
jacob's syndrome
males with an extra Y chromsome, 1 out of 1000 births tend to somewhat taller than average and maybe have soemwhat reduced intelligence but many appear and act normally
trisomy X
triple X syndrome, which occurs once in every 2000 live births produces females that appear normal but they are usually sterile. show two Barr bodies
Monosomy X or Turner's syndrome (X0)
1 in every 5000 births, produces usually phneotypically normal but infertile females.
cri du chat
cry of the cat, results from a specific deletion in chromsome 5, mentally retarded and have a small head with unusual facial features and cry like that of a distressed cat.
chronic myelogenus leukemia (CML)
fragment of chromsome 22 switches places with a small fragment from the tip of chromsome 9.
Gragile X syndrome
second most common cause of mental retardation, more common in males, more common if the abnormal chromsome is inherited from the father. In the fragile X gene on the X chrosmome, the CGG nucleotide triplet is repeated about 3o times in the normal alelle. In the mutant allele the triplet is repated hundred to thousands of times created the fragile site on the chromsome
most common cause of mental retardation
down syndrome
second most common cause of mental retardation
fragile x syndrome
traits of the genes found in mitochondria depends only upon the . . .
maternal parent
In animals, the zygote cytoplasm comes only from the
egg. No sperm mitochondria are present.