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Chromosomal Theory of Inheritance
Developed by Sutton and Boveri
Sutton observed chromosomes separating during meiosis
Bovieri showed chromosomes were necessary for embryonic development
Chromal Theory of Inheritance Identified what?
That chromosomes were genetic material responsible for mendelian inheritance
Core Concepts of Chromosomal theory of inheritance
During meiosis chromosomes segregate randomly into gametes, and gametes carry half the genetic material, fertilization restores the full set
T.H Morgan
White eyed gene was found on the X chromosome demonstrating genetic linkage
Linked Genes
Genes tend to be inherited together and are physically located near eachother on the same chromosome-Violating the law of independent assortment
display different offspring rations compared to unlinked genes
Homologous Recombination aka Crossing Over
occurs during prophase 1 of meiosis exchanging genetic material between homo chromosomes
Genetic Linkage Maps
The concept of linkage was further extend to map genes to chromosome position
What does homologous recombination produce?
Produces recombinant chromosomes aka new allele combinations
the closer two genes are the less likely they are to recombine
Cross over between homologous chromosomes
when genes were far apart crossover happened all the time when they were close together it happpened less frequently
Inheritance patterns of unlinked genes
Independently assorted
50% parental type offspring and 50% recombinant offspring
1:1:1:1 ration of phenotypes
Inheritance patterns of linked genes
NOT independently assorted
no recombinant offspring produced, all are parental type
1:1:0:0 ratio of phenotype
What happens if crossover always occurs between homologous chromosomes?
1::1:1 ratio of phenotypes
50% parental type offspring and 50% recombinant offspring
linked genes ACT LIKE independently assorted
Alfred H Sturtevant
The greater distance between 2 genes on a chromosome the more points there are between them where crossing over can occur
Recombination frequency
Recombinants/ total offspring x 100
Recombination frequency
ised to map the relative position of genes on chromosomes
nondisjunction
results when a cell has an abnormal chromosome number due to failure of separation in meiosis leading to gametes with an extra or missing chromosome.
Aneuploidy
the federalization of gametes in which nondisjunction occurs, offspring have an abnormal number of a particular chromosome
Polyploidy
when there are more than 2 complete sets of chromosome in an organism
X chromosome and X Inactivation
1 of the 2 X chromosomes in each cell is randomly inactivated during development
XIST>X-inactive-specific-transcript
Male cats only have 1 X chromosome never exhibit the tortoiseshell color
Trisomy 21
Down Syndrome most common birth defect parental age factor
characteristic facial and limb features
heart defects
Increased risk of leukemia
issues with immune GI and nervous system
social and outgoing
Triple-X Syndrome
Symptoms not usually extreme , extra X chromosome at pair 23, taller than average, increased risk of learning disabilities and delayed development
Turners Syndrome
Female(X) much more severe than XXX , significant issues to heart and kidneys
Growth hormone and estrogen therapy can help treat symptoms
Klinefelters Syndrome
A genetic condition in males characterized by an extra X chromosome (XXY). Symptoms may include reduced testosterone levels, infertility, and learning difficulties. Can be treated not cured with testosterone therapy
Jacobs Syndrome
A genetic condition in males characterized by an extra Y chromosome (XYY). Symptoms may include tall stature and increased risk for autism ; often goes undiagnosed.
cri-du-chat syndrome
A genetic disorder caused by a deletion of part of chromosome 5. It is characterized by a distinctive high-pitched cry, developmental delays, and various physical abnormalities. 5p=petite arm