- Karyotypes show the 23 pairs of chromosomes in human cells, with autosomes making up the first 22 pairs and sex chromosomes determining gender as the 23rd pair (XX female, XY male)
- Pedigree charts show the genetic history and inheritance of traits in a family over generations using symbols to represent individuals and their genotypes
- Traits can be dominant, recessive, or sex-linked (located on the X chromosome); the chance of offspring inheriting traits can be determined using Punnett squares
- Down syndrome is identified via karyotype as having an extra copy of chromosome 21, giving 47 total chromosomes rather than the typical 46
There are two types of chromosomes, Autosomes and Sex chromosomes
Autosomes are those chromosomes that are not involved in sex determination.
Sex chromosomes are those chromosomes that determine the sex of an organism.
A human somatic cell has two sex chromosomes: XY in male (hetero-gametic) and XX in female (homo-gametic).
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
There are two types of chromosomes, Autosomes and Sex chromosomes
Autosomes are those chromosomes that are not involved in sex determination.
Sex chromosomes are those chromosomes that determine the sex of an organism.
A human somatic cell has two sex chromosomes: XY in male (hetero-gametic) and XX in female (homo-gametic).
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
Concept of Sex chromosomes and autosomes,
Inheritance of X- linked genes – eye colour in Drosophila,
Inheritance of colour blindness in humans,
Inheritance of Y-linked Genes -Holandric genes in humans,
Sex influenced genes – baldness in humans
Sex-limited genes - feathering in domestic fowl
Concept of Sex chromosomes and autosomes,
Inheritance of X- linked genes – eye colour in Drosophila,
Inheritance of colour blindness in humans,
Inheritance of Y-linked Genes -Holandric genes in humans,
Sex influenced genes – baldness in humans
Sex-limited genes - feathering in domestic fowl
Breaking down Biology into simpler bits is the most effective way to learn hence this presentation aims to simplify the concept of 'Linked Inheritance' which makes understanding Inheritance better.
not exaclty sure what to do here U Sexlinked Disorders Se.pdfsaravanan544051
not exaclty sure what to do here
U. Sex-linked Disorders Sex-linked traits ine controlled by genes that are found on the X
clromosome, but not on the Y chromosome in humans. The X chromosome is larger and has more
genes than the Y chromosome. This complicntes the inleritance of uraits on the X clromosome
since we expect that a normal diploid cell will have two alleles for any gene. Such is not he case
for males siuce they are XY and will only have cne copy of the genes that are locied ou the X
chromosome: Females (XX) will have two ulleles for a gene located on the X chromosome Males (
XY) will only have one allele for that trait. This, females with one dominant and one recessive
allele for a gene on the X chromosene would display the dominant phenotype. However a mate
will always displey the phenorype of the one allele that they have for the mait that is carried on the
X chroinosonie. A new way of writing alleles: XR - normal eyesiglt X-colorblind Genotypes: XRXR
XRXrXRYXRXrXY Phenotypes: Normal Eyesight and Colorblind Remember to follow the same
steps in order to solve problems: 1. Assign lefters to represent the genes 2. Determine the
parental phenotypes and genotypes. 3. Predict the outcome of a cross between the possible
gameles from the tiro parents. 4. State plenotypic and genoty pic ratios present ia the offspring. 5.
Don't forget to answer the question witlin the problem. ains. begin{tabular}{|c|c|} hlinex & x hlinexn
x & xx hlinexy & xy hline end{tabular}.
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9. Pedigree Chart of a Dominant Trait The father does not have the dominant disease so he must have 2 recessive alleles; his genotype is hh The son has the dominant disease so he has to have at least one dominant allele. Is his genotype HH or Hh? One allele came from his father so his genotype is Hh.
10. Pedigree Chart of a Dominant Trait hh HH Hh What are the chances that future offspring of this couple will have this dominant disease? Use the genotypes of the parents to draw a punnett square.
11. Pedigree Chart of a Dominant Trait hh HH Hh All of the offspring have the dominant allele so 100% of their future children will have this dominant disease. H H h Hh Hh h Hh Hh
12.
13. Pedigree Chart of a Recessive Trait She must have 2 recessive alleles to have this disease. Her genotype is cc. The dad does not have this recessive disease so his genotype is either CC or Cc. Since he passed on one recessive allele to his daughter, his genotype is Cc.
14. Pedigree Chart of a Recessive Trait What are the chances that future offspring of this couple will have this recessive disease? Use the genotypes of the parents to draw a punnett square. Cc Cc cc
15. Pedigree Chart of a Recessive Trait Cc Cc cc C c C CC Cc c Cc cc Only 1 out of 4 offspring have the recessive disease (cc). There is a 25% chance of future offspring having the disease.
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22. Practice What percentages can be expected in the offspring of a cross between a female carrier for color blindness and a male with a normal color vision? Show your work with a punnett square.
23. Practice What percentages can be expected in the offspring of a cross between a female carrier for color blindness and a male with a normal color vision? Color blindness is a recessive trait attached to the X chromosome. A female carrier means heterozygous. female carrier X B X b male with normal vision X B Y X B X b Y X B Y X b Y X B X B X B X B X b 25% colorblind males 25% carrier females 25% normal males 25% normal females
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Editor's Notes
You must learn the symbols of the pedigree charts before you can start to learn how to interpret it. These are the symbols that represent a male and a female.
These symbols also represent relationships between people. some may have to each other.
These are examples of different types of symbols. These symbols would be the same for males or for females, except for X-linked carrier which is only used for females. So an affected male would be a square that is filled in completely. A deceased female would be a circle with a diagonal slash.
![Chromosomes ,[object Object],[object Object]](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)