Heredity Flashcards

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1
Q

Gene:

A

Genetic material on a chromosome that contains the instructions for creating a particular trait

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2
Q

Allele:

A

One of several variations of a gene

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3
Q

Locus:

A

• Location on a chromosome where a gene is located

Every gene has a unique locus on a particular chromosome

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4
Q

Homologous Chromosomes:

A

Pair of chromosomes that contains the same genetic information (gene for gene)

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5
Q

Law of Segregation:

A

• One chromosome from a pair of homologous chromosomes migrates to an opposite pole
Each gamete contains only one copy of each chromosome (and allele)

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6
Q

Law of Independent Assortment:

A

When homologous chromosomes separate, they do not influence which pole any other chromosome pairs go to

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7
Q

Incomplete Dominance:

A

• Both alleles expressed as an intermediate

i.e. Red + white= pink

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8
Q

Codominance:

A

• Both alleles are completely expressed

i.e. Blood type

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9
Q

Agglutination

A

Clumping of blood that results when antibodies attack antigens on foreign blood types

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10
Q

Epistasis:

A

• One gene affects the phenotypic expression of another gene
• Often seen in pigmentation
○ One gene turns the production of a pigment on or off
○ Second gene controls colour or amount of pigment produced
If first gene codes for no pigment, expression of second gene has no effect

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11
Q

Pleiotropy:

A

• Single gene has more than one phenotypic expression

Seems to be responsible for several different characteristics

i..e Gene that codes for whether a seed is round or wrinkled also affects starch metabolism

Opposite of Polygenic inheritance

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12
Q

Pleiotropy and Sickle Cell Disease

A

Allele incorrectly codes of Hb
□Causes RBC to become sickle shaped
Results in damage to heart, lugs kidneys…etc

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13
Q

Polygenic Inheritance:

A

Many traits are not just expressed in 2 or 3 varieties

i.e. Height is expressed as a continuous variation from very short to very tall

Continuous variation usually results from polygenic inheritance
○ Interaction of many genes to shape a single phenotype

Opposite of pleiotropy

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14
Q

Linked Genes

A

• Linked genes reside on the same chromosome
• Cannot segregate independently because they are physically connected
Genes that are linked are usually inherited together

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15
Q

Recombination Frequency:

A

Greater recombination frequency= greater distance between genes

The greater the distance between 2 genes on a chromosome, the more places between the genes that the chromosome can break
(More likely that the 2 genes will cross over during synapsis)

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16
Q

Linkage Map

A

○ Chromosome map created based on recombination frequencies of different genes
Determines sequence of genes on a chromosome

17
Q

Cytological map

A

Map portraying the true relative positions of genes

18
Q

Sex-Linked Inheritance:

A

Sex linked/X-linked genes are genes that reside on the X chromosome

Y linked genes are also possible, but rare because there are very few genes on the Y chromosome

Sex linked genetic defects are more common in males than females

19
Q

X-Inactivation:

A

• In females, one X chromosomes in each cell does not uncoil into chromatin
Instead, forms a Barr body

• Only the allele of the gene on the active X chromosome are expressed 
• One random X chromosome becomes inactive, subsequent daughter cells will have the same X inactivated  (not all cells in females are identical)
20
Q

Barr Body

A

Chromosome remains as a dark, compact body

Mostly inactive X chromosomes

Genes not expressed

21
Q

X Inactivation- Calico Cats

A

X chromosome with yellow allele inactivated
- Black allele on active chromosome is expressed

X chromosome with black allele inactivated
- Yellow allele on active chromosome expressed

Different cells with different X inactivated results in patches

22
Q

Non-Disjunction

A

Failure of one or more chromosome pairs/chromatids to properly segregate

23
Q

Non-Disjunction During Meiosis

A

Failure of homologous chromosomes (anaphase I) or chromatids (anaphase II) to segregate

Produced gametes with extra or missing chromosomes

24
Q

Non-Disjunction During Mitosis

A

○ Failure of 2 chromatids (during anaphase) to segregate
○ Produces daughter cells with extra or missing chromosomes
Results in mosaicism

25
Q

Polyploidy

A

○ All chromosomes undergo meiotic non-disjunction
○ Produces gametes with twice the number of chromosomes
○ If polyploid gamete is fertilized with a similar gamete, then a polyploidy zygote and individual and form
Common in plants

26
Q

Point Mutation

A

Single nucleotide incorrect

• Most point mutations have deleterious effects on gene function i.e. Sickle cell anemia
27
Q

Substitution

A

Nt substituted

28
Q

Deletion

A

Nt missing

29
Q

Insertion

A

Extra Nt inserted

30
Q

Aneuploids

A

• Genome with extra or missing chromosomes
• Usually caused by non-disjunction
Most aneuploidy gametes are sterile

Those that survive has genetic defects

31
Q

Down Syndrome

A

Aneuploidy in chromosome 21

Resulting in trisomy 21

32
Q

Turner Syndrome

A

Aneuploid

			□ Non-disjunction of sex chromosomes
			□ Sperm either have both sex chromosomes (XY) or no sex chromosomes (O) Individuals with Turner syndrome are physically abnormal, and sterile
33
Q

Chromosome Aberrations

A

Chromosome segments are changed

34
Q

Duplications

A

Chromosome segment is repeated on the same chromosome

35
Q

Inversion

A

Chromosome segment rearranged in reverse orientation on the same chromosome

36
Q

Translocation

A

○ Segment of a chromosome is moved to another chromosome
○ Down syndrome can also occur after translocation of a chromosome segment from chromosome 21 to chromosome 14
§ Ends up with 2 chromosome 21 and a chromosome 14 with a segment of 21
Same phenotypic effect as trisomy 21