L5: Principles of heredity and family pedigree Flashcards

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1
Q

What is DNA?

A
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2
Q

What provides the key to genetic diversity among living organisms?

A

Different arrangements of NUCLEOTIDES in a nucleic acid (DNA) provides the key to DIVERSITY among living organisms.

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3
Q

What is a chromosome and how many chromosomes do humans have?

A
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4
Q

What are genes?

A
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5
Q

Describe the experiment of plant hybridization done by the father of genetics Mendel

A
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6
Q

What is heredity?

A

Transmission of genetic information from parent to offspring

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7
Q

What is genetics?

A

The science of heredity (branch of biology that deals with heredity and variation of organisms).

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8
Q

What is Genome?

A

the entire set of genes in an organism

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9
Q

What is a locus?

A

Each gene has a specific site on a certain chromosome (fixed positions).

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10
Q

What are alleles or alternative forms?

A

The forms of the gene found at a particular locus, One allele is inherited from father and the other from mother.

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11
Q

What are homozygous alleles?

A

Both alleles of a pair are the same TT, tt

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12
Q

What are heterozygous alleles?

A

Both alleles of a pair are not the same Tt

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13
Q

What are dominant alleles?

A

the allele of a gene that masks or suppresses the expression of an alternate allele; the trait appears in the heterozygous condition.

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14
Q

What are recessive alleles?

A

an allele that is masked by a dominant allele; does not appear in the heterozygous condition, only in homozygous.

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15
Q

What is a trait?

A

Any genetically determined characteristics of the individual

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16
Q

What does genotype mean?

A

the genetic makeup of an organisms. alleles carried by anindividual eg. RR, Rr, rr. (internal information)

17
Q

What does phenotype mean?

A
  • the physical appearance of an organism (Genotype + environment) (external appearance).
  • physical characteristic or appearance of an individual
18
Q

Give an example that illustrates basic terms of genetics

A

Trait: eye colour
Genotype: BB. Bb, bb
phenotype: brown or blue
Dominant allele: B
Recessive allele: b

19
Q

What are Mendel’s principles?

A
  1. Principle of Dominance
  2. Principle of Segregation
  3. Principle of Independent Assortment
20
Q

Describe Mendel’s principle of dominance

A

One allele masked another; one allele was dominant over the other.
* Each trait is controlled by 2 factors (alleles), one factor (dominant) may mask the other factor (recessive) preventing it from having an effect.

21
Q

Describe Mendel’s principle of segregation

A

When gametes are formed, the alleles for each gene segregate from each other so that each gamete carries only one allele for each gene.

22
Q

Describe Mendel’s principle of independent assortment

A

the alleles for one trait separate independently of the alleles for other traits during gamete formation

23
Q

What is punnett square?

A

It is a chart that allows to easily determine the expected ratios of possible genotypes in the offspring of two parents.

24
Q

What is the definition of a family pedigree and what is its importance?

A

• A family pedigree shows how a trait is passed from generation to generation within a family.
• A pedigree can show\whether a Mendelian trait is autosomal or x-linked trait/ dominant or recessive.

25
Q

What are other types of inheritance that Mendel never considered?

A

• Incomplete Inheritance

• Codominance

• Multiple Alleles

• Polygenic Traits

• Sex-linked

26
Q

What does of the heterozygous offspring in case of incomplete inheritance display?
and give an example for it

A

• The heterozygous offspring displays a THIRD Phenotype!! (intermediate in phenotype)

• A good example of incomplete dominance in humans is hair type.

• There are genes for straight and curly hair, and if an individual is heterozygous, they will typically have the phenotype of wavy hair.

27
Q

Describe multiple alleles theory and give an example for it

A

Genes often exist in several different forms and are therefore said to have multiple alleles.

Example: Human Blood group (A, B, O, or AB)Multiple allele A, B, and O, A and B dominant / O recessive,[3 alleles & 4 phenotypes]

28
Q

describe co-dominance theory and give an example for it

A

Both traits are dominant and show up in the phenotype together. [Co means “together”]they both influence the phenotype.

Both alleles of a gene are expressed in the phenotype.

in human; AB blood group

29
Q

Describe polygenic inheritance and give an example for it

A

• Traits controlled by interaction of two or more genes (multiple genes) are said to be polygenic traits.

• E.g. skin color and height.

• Skin color is a common example of a polygenic trait it is governed by 6 loci and at least 12 alleles.

30
Q

Describe sex-linked genetics

A

Sex is determined by sex chromosomes X and Y

XX= female, XY = male

The X chromosome contains many important genes that are unrelated to sex determination, These genes are required for both males and females

A male receives ALL of his X-linked genes from his mother while a female receives her X-linked genes from both parents.

31
Q

Remember the following notes about Sex-linked Inheritance

A
32
Q

When will males or females show X-linked recessive disorders?

A
  • Males will show this trait if they have the recessive allele on the X chromosome
  • Females will show this trait if they have the recessive allele on both X chromosomes
33
Q

Give an example of X-linked recessive disorders

A

(Homozygous recessive)
* Hemophilia: Inability to have clotting of blood, XhColor blindness: Xc