Heredity Flashcards

(36 cards)

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
Polyploidy
○ 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
Point Mutation
Single nucleotide incorrect • Most point mutations have deleterious effects on gene function i.e. Sickle cell anemia
27
Substitution
Nt substituted
28
Deletion
Nt missing
29
Insertion
Extra Nt inserted
30
Aneuploids
• Genome with extra or missing chromosomes • Usually caused by non-disjunction Most aneuploidy gametes are sterile Those that survive has genetic defects
31
Down Syndrome
Aneuploidy in chromosome 21 Resulting in trisomy 21
32
Turner Syndrome
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
Chromosome Aberrations
Chromosome segments are changed
34
Duplications
Chromosome segment is repeated on the same chromosome
35
Inversion
Chromosome segment rearranged in reverse orientation on the same chromosome
36
Translocation
○ 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