CYTOGENETICS: L2 (M)

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32 Terms

1
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Alleles Alter Phenotypes in Different Ways

Modification Of Mendelian Ratios

  2. Geneticists Use a Variety of Symbol for Alleles

  3. Neither Allele is Dominant in Incomplete, or Partial, Dominance

  4. Codominance, The Influence of Both Alleles in Heterozygote

  5. Multiple Alleles of a Gene may Exist in a Population

  6. Lethal Alleles

2
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Geneticists Use a Variety of Symbol for Alleles

Modification Of Mendelian Ratios

  1. Alleles Alter Phenotypes in Different Ways

  3. Neither Allele is Dominant in Incomplete, or Partial, Dominance

  4. Codominance, The Influence of Both Alleles in Heterozygote

  5. Multiple Alleles of a Gene may Exist in a Population

  6. Lethal Alleles

3
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Neither Allele is Dominant in Incomplete, or Partial, Dominance

Modification Of Mendelian Ratios

  1. Alleles Alter Phenotypes in Different Ways

  2. Geneticists Use a Variety of Symbol for Alleles

  4. Codominance, The Influence of Both Alleles in Heterozygote

  5. Multiple Alleles of a Gene may Exist in a Population

  6. Lethal Alleles

4
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Codominance, The Influence of Both Alleles in Heterozygote

Modification Of Mendelian Ratios

  1. Alleles Alter Phenotypes in Different Ways

  2. Geneticists Use a Variety of Symbol for Alleles

  3. Neither Allele is Dominant in Incomplete, or Partial, Dominance

  5. Multiple Alleles of a Gene may Exist in a Population

  6. Lethal Alleles

5
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Multiple Alleles of a Gene may Exist in a Population

Modification Of Mendelian Ratios

  1. Alleles Alter Phenotypes in Different Ways

  2. Geneticists Use a Variety of Symbol for Alleles

  3. Neither Allele is Dominant in Incomplete, or Partial, Dominance

  4. Codominance, The Influence of Both Alleles in Heterozygote

  6. Lethal Alleles

6
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Lethal Alleles

Modification Of Mendelian Ratios

  1. Alleles Alter Phenotypes in Different Ways

  2. Geneticists Use a Variety of Symbol for Alleles

  3. Neither Allele is Dominant in Incomplete, or Partial, Dominance

  4. Codominance, The Influence of Both Alleles in Heterozygote

  5. Multiple Alleles of a Gene may Exist in a Population

7
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Wild-type allele

Terminologies:

  • .

    • most frequently encountered allele in a population, arbitrarily considered as normal.

8
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Mutation

Terminologies:

  • .

    • modification of genetic sequence

9
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Loss of function mutation

Terminologies:

  • .

    • mutation that brought about diminished functionality of the gene 

10
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Null allele

Terminologies:

  • .

    • eventual loss of function of a gene due to mutation 

11
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Gain of function mutation

Terminologies:

  • .

    • increased activity of a gene due to mutation

12
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Neutral mutation

Terminologies:

  • .

    • mutation in a gene that does not  necessarily alter its activity 

13
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Recessive Allele 

  • .

    • Lowercase and italicized

      • (p)

14
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Dominant allele 

  • .

    • Uppercase and italicized

      • (P)

15
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Intermediate

  • Neither of the alleles are dominant nor recessive thereby expressing an _____ phenotype

    • Wild type allele is R1 = Red

    • Mutant allele is R2 = White

    • This type of mutation is loss of function

<ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Neither of the alleles are dominant nor recessive thereby expressing an _____ phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Wild type allele is R1 = Red</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Mutant allele is R2 = White</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">This type of mutation is loss of function</span></p></li></ul></li></ul><p></p>
16
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R1 = Red

  • Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype

    • Wild type allele is __ = ___

    • Mutant allele is R2 = White

    • This type of mutation is loss of function

<ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Wild type allele is <strong> __ </strong>=<strong> </strong>___</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Mutant allele is R2 = White</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">This type of mutation is loss of function</span></p></li></ul></li></ul><p></p>
17
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R2 = White

  • Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype

    • Wild type allele is R1 = Red

    • Mutant allele is __ = ___

    • This type of mutation is loss of function

<ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Wild type allele is R1 = Red</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Mutant allele is __ = ___</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">This type of mutation is loss of function</span></p></li></ul></li></ul><p></p>
18
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Loss of function

  • Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype

    • Wild type allele is R1 = Red

    • Mutant allele is R2 = White

    • This type of mutation is

<ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Neither of the alleles are dominant nor recessive thereby expressing an intermediate phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Wild type allele is R1 = Red</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Mutant allele is R2 = White</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">This type of mutation is </span></p></li></ul></li></ul><p></p>
19
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Codominance

  1. _____, The Influence of Both Alleles in Heterozygote

  • In heterozygotes, both alleles are DOMINANT thereby expressing 2 distinct gene products.

  • Inheritance of both dominant genes (2 unit factors) leads to expression of 2 dominant phenotype

    • Ex. The MN Blood Group system

      • Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.

<ol><li><p style="text-align: justify;"><span style="background-color: transparent;">_____, The Influence of Both Alleles in Heterozygote</span></p></li></ol><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">In heterozygotes, both alleles are DOMINANT thereby expressing 2 distinct gene products.</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Inheritance of both dominant genes (2 unit factors) leads to expression of 2 dominant phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Ex. The MN Blood Group system</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.</span></p></li></ul></li></ul></li></ul><p></p>
20
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Dominant

  1. Codominance, The Influence of Both Alleles in Heterozygote

  • In heterozygotes, both alleles are _____ thereby expressing 2 distinct gene products.

  • Inheritance of both dominant genes (2 unit factors) leads to expression of 2 dominant phenotype

    • Ex. The MN Blood Group system

      • Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.

<ol><li><p style="text-align: justify;"><span style="background-color: transparent;">Codominance, The Influence of Both Alleles in Heterozygote</span></p></li></ol><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">In heterozygotes, both alleles are _____ thereby expressing 2 distinct gene products.</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Inheritance of both dominant genes (2 unit factors) leads to expression of 2 dominant phenotype</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Ex. The MN Blood Group system</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.</span></p></li></ul></li></ul></li></ul><p></p>
21
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2 dominant phenotype

  1. Codominance, The Influence of Both Alleles in Heterozygote

  • In heterozygotes, both alleles are DOMINANT thereby expressing 2 distinct gene products.

  • Inheritance of both dominant genes (2 unit factors) leads to expression of _ _____ _____

    • Ex. The MN Blood Group system

      • Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.

<ol><li><p style="text-align: justify;"><span style="background-color: transparent;">Codominance, The Influence of Both Alleles in Heterozygote</span></p></li></ol><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">In heterozygotes, both alleles are DOMINANT thereby expressing 2 distinct gene products.</span></p></li><li><p style="text-align: justify;"><span style="background-color: transparent;">Inheritance of both dominant genes (2 unit factors) leads to expression of _ _____ _____</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Ex. The MN Blood Group system</span></p><ul><li><p style="text-align: justify;"><span style="background-color: transparent;">Genes at certain locus in chromosome 4 regulate the production of M and N substance (glycoprotein), inheritance of both genes lead to production of both glycoprotein.</span></p></li></ul></li></ul></li></ul><p></p>
22
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Multiple Alleles

  1. _____ _____ of a Gene may Exist in a Population

_____ _____ - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

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ABO Blood Group 

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ___ _____ _____

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ___ _____ _____

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

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Karl Landsteiner

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by ____ _____

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

25
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A phenotype

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (_ _____)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

26
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B phenotype

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (_ _____) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

27
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AB phenotype

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (__ _____)

      • neither antigen (O phenotype)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

28
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O phenotype

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (_ _____)

  • The Bombay Phenotype

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

29
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The Bombay Phenotype

  1. Multiple Alleles of a Gene may Exist in a Population

Multiple alleles - in a population of organisms, the presence of three or more alleles of the same gene 

  • The ABO Blood Group 

    • Simplest case of multiple alleles is that which three alternative alleles of one gene exist

    • Discovered by Karl Landsteiner

    • Four phenotypes of ABO Blood Group

      • A antigen (A phenotype)

      • B antigen (B phenotype) 

      • A and B antigen (AB phenotype)

      • neither antigen (O phenotype)

  • ___ _____ ______

    • A rare variant of the ABO antigen system in which affected individuals do not have A or B antigens and thus appear to have blood type O, even though their genotype may carry unexpressed alleles for the A and/or B antigen

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Lethal Alleles

  1. _____ _____

  • Genetic mutation which might lead to death

  • Genes function primarily for the expression/production of substances essential to life

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Death

  1. Lethal Alleles

  • Genetic mutation which might lead to _____

  • Genes function primarily for the expression/production of substances essential to life

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Expression / Production

  1. Lethal Alleles

  • Genetic mutation which might lead to death

  • Genes function primarily for the _____/_____ of substances essential to life