Top6-Ch7-P168-202End Flashcards

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1
Q

Crossing over between linked genes produces nonrecombinant and recombinant offspring. See example in answers of a diagram.

A
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2
Q

Explain coupling and repulsion configuration and how they differ. Also what is another name for both configurations.

A

Coupling (or cis) configuration is an arrangement where wild type alleles are found on one chromosome and mutant alleles are found on the other chromosome.

Repulsion (or trans) configuration is when each chromosome contains one wild type and one mutant allele.

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3
Q

Recombination is?

A

the sorting of alleles into new combinations

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4
Q

Interchromosomal recombination is?

A

sorting of alleles on different chromosomes (independent assortment) or random segregation of chromosomes in anaphas I of meiosis and is the kind of recombination that Mendel discovered while studying dihybrid crosses.

Produces 50% nonrecombinant gametes and 50% recombinant gametes.

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5
Q

Intrachromosomal recombination is?

A

the sorting of alleles on the same chromosome (crossing over), the exchange of genetic material in prophase I of meiosis.

Often produces less than 50% recombinant gametes, however, if genes are far apart on same chromosome then intrachromosomal recombination also produces 50% recombinant gametes.

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6
Q

Physical evidence of recombination as presented by Creighton and McClintock in 1931.

A
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7
Q

The recombination frequency is?

A

determining the proportions of the types of offspring.

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8
Q

What is a three point testcross?

A

a testcross for three genes

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9
Q

Three types of crossover can take place among three linked loci

A
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10
Q
  1. Recombination provides the order of genes and _____ distances
  2. double cross overs will ____ be counted and underestimate distances
A
  1. relative
  2. not
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11
Q

Recombination between _____ genes can be used for gene ______

A

different, mapping

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12
Q

To determine the gene order you do what first then what second?

A

First, determine order of loci

Then, determine cross overs

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13
Q

To map genes what is needed? What is an efficient way to obtain this information?

A

information abou the location and number of crossovers in the gametes that produced the progeny of a cross is needed.

An efficient way to obtain this information is to use a three point cross test in which an individual heterozygous at three linked loci is crossed with an individual that is homozygous recessive at the three loci.

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14
Q

Recombination between different genes can be used for gene mapping but it ________ frequencies

A

underestimates

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15
Q

Gene mapping in humans uses? Give an example.

A

pedigree analysis
Example: linkage of nail-patella syndrome and ABO blood group system.

nail-patella syndrome is a rare autosomal dominant disorder characterised by abnormal fingernails and absent or rudimentary kneecaps.

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16
Q

Molecular markers can be used for?

A

gene mapping

17
Q

What was one of the earliest molecular markers? Explain a bit about it.

A

RFLPs - restriction fragment length polymorphisms which are variations in DNA sequence detected by cutting the DNA with restriction enzymes.

18
Q

What are microsatellites?

A

Molecular markers which is detecting variable numbers of short DNA sequences repeated in tandem.

19
Q

What is the ultimate mapping tool?

A

Sequencing

20
Q

Recombination established linkage groups but gives no information on ______ ________.

A

chromosomal location

21
Q
  1. Physical chromosome methods were developed to determine?
  2. Is this dependant on crossing over?
A
  1. chromosomal location of genes
  2. No
22
Q

Linkage analysis is?

A

is based on the observation that genes that reside physically close on a chromosome remain linked during meiosis. Genetic linkage analysis is a powerful tool to detect the chromosomal location of disease genes. It is a more traditional approach

23
Q

What is genome wide association

A

looks at traits in combination with suites of alleles, or looking for nonrandom associations between the presence of a trait and alleles at many different loci scattered across the genome.

It looks for associations between traits and particular suites of alleles in a population.

For instance (see below) a gene involved with bipolar diseases is linked to a certain haplotype.
Crossing over reduces this link
Fast reduction means not close together

24
Q

What is haplotype?

A

wikipedia: is a combination of alleles (DNA sequences) at adjacent locations (loci) on a chromosome that are transmitted together.

free dictionary: a combination of alleles (for different genes) that are located closely together on the same chromosome and that tend to be inherited together

25
Q

What is linkage disequilibrium?

A

text: the nonrandom association between alleles in a haplotype.

slides: Non random association of the trait with a certain haplotype

wikipedia: is the non-random association of alleles at two or more loci, that may or may not be on the same chromosome.

26
Q

What is deletion mapping?

A

absence of one or more of the bands that are normally on a chromosome reveals a chromosome deletion, a mutation in which part of the chromosome is missing. Genes can be assigned to regions of chromosomes by studying the association between a gene’s phenotype or product and particular chromosomal deletions.

27
Q

Explain somatic cell hybridization

A

is the fusion of different types of cells. to do this cells that will divide indefinitely are used (from tumours or altered by viruses) and are cultured in laboratory to create a cell line.

Human and mouse cell lines can fuse to create cells with two nuclei which is called a heterokaryon. The two nuclei gradually fuse then as cell divides then all but a few human chromosomes are lost. The presence of extra human chromosomes in the mouse genome makes it possible to assign human genes to specific chromosomes.

28
Q

Genes can be localised to a specific part of a chromosome by using somatic-cell hydrisation. See diagram on next page.

A

In cell line 1 the gene product is present when chromosome 4 is intact.

The gene product is absent in cell line 2 when the entire chromosome 4 is absent.

The gene product is absent in cell line 3 when the short arm is missing.

29
Q

What is in situ hybridization?

A

where researchers actually see genes through a radioactive probe that fluoresces under ultraviolet light so that it can be visualised.

30
Q

Recombination rates vary ________ between species and between chromosomes in one species

A

extensively

31
Q

There are __ times more recombination in humans than in mice and rats

A

2

32
Q

Human chromosomes ____ and _____ have highest recombination level, ___ and ___ the lowest

A

21 and 22

2 and 4

33
Q

Might recombination hotspots be species specific?

A

Yes