Genetics Chapter 12, 13, 15, 16, 17, 19

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(1)_______________ and ________________ produce no significant effects in (2)________________, where the two inversions or translocations exist opposite each other at the same locus. But translocation (3)_____________________, just like inversion heterozygotes, may have diminished (4)_______________. In translocation (5)______________________, certain patterns of chromosome (6)__________________ during meiosis produce genetically (7)__________________ gametes. In a translocation homozygote (8)_________ the chromosomes segregate normally during meiosis I.

(1) translocations and inversions (2) homozygotes (3) heterozygotes (4) fertility (5) heterozygotes (6) segregation (7) unbalanced (8) T/T

Inversions are rare, so most people who have inversions are (14)______________-________________, who inherited it from one (15)_____________. Crossing over with an inversion loop produces makes aberrant recombinant chromatids, where the inversion is (16)_________________ or paracentric. If the inversion is (17)_______________, and a single crossover happen within the inversion loop, both recombinants will have (18)________ centromere, but will carry a (19)________________ of one region and a (20)___________________ of another region. These chromosomes will create gametes with abnormal dosage, and will produce zygotes that will likely die of genetic (21)_________________.

(14) inversion heterozygotes (15) parent (16) pericentric (17) pericentric (18) one (19) duplication (20) deletion (21) imbalance

No recombinant progeny survive in crossing over in a (32)_______________ inversion loop. All surviving progeny of parents with inversions are (33)________________________, therefore, inversions act as (34)________________-_________________, which are used to create (35)__________________ chromosomes that cannot crossover, due to their multiple, overlapping inversions.

(32) paracentric (33) nonrecombinants (34) crossover suppressors (35) balancer chromosomes

(1)_________, or (2) flourescent _____-______ _________________ give scientists the first clue as to how rearrangements work. FISH attaches flourescent markers to sequences that are complementary to certain probes. One type of FISH analysis is called (3)_______, or (4)_____________ ________________, in which each chromosome is painted a different color, which reveals if (5)_______________-_____________ have occurred.

(1) FISH (2) flourescent in-situ hybridization (3) SKY (4) spectral karyotyping (5) reciprocal translocations

(1)_____________________ is when the two (2)_____________________ chromosomes have to segregate (3)_______________ as a clump, and the two normal chromosomes have to segregate together as a clump, only in translocation (4)__________________, if you want to get genetically (5)_________________ gametes, which is characteristic of the (6)___________________ segregation pattern, therefore it's as if the genes on the two (7)__________________ chromosomes are linked together, and it's as if the two genes on the (8)____________ chromosomes are (9)______________ together.

(1) pseudolinkage (2) translocation (3) together (4) heterozygotes (5) balanced (6) alternate (7) translocation (8) normal (9) linked

(15)________________ often remain constant within a species, not because (16)____________________ or changes in chromosome (17)_______________ are rare, but because they are at a selective (18)__________________ and do not endure. Additionally, chromosome alterations or changes in chromosome number do not contribute to various karyotypes within the same species, because karyotype alterations will often end up creating a new (19)_________________.

(15) Karyotypes (16) alterations (17) number (18) disadvantage (19) species

All rearrangements will juxtapose DNA sequences that would not normally be connected, separated by (19)_________________ _________________, which are the DNA base pairs at which a rearranged region begins and ends. Knowledge of these breakpoints is necessary for understanding which (20)____________ are responsible for the (21)_____________ that rearrangements affect. You can also determine (22)_______________ ________________ by first figuring out the general location of the rearrangement from (23)_______________ or (24)______________, attaining primers that flank the region containing the rearrangement, performing (25)______, and then (26)__________________ the products to determine the precise (27)____________________ _________________.

(19) rearrangement breakpoints (20) genes (21) phenotypes (22) rearrangement breakpoints (23) barcoding (24) microarrays (25) PCR (26) sequencing (27) rearrangement breakpoints

Recombination between (1)____________ and (2)__________________ chromosomes can only occur between regions of similarity. Therefore, map distances derived from (3)________________ frequencies in organisms that are (4)_____________ heteroygotes (which have a deleted region across from a normal region) will provide inaccurate map distances. The normal homolog will pair with the deletion-containing homolog in (5)____________-__ of meiosis, and will loop out the region that is across from the deleted region, in a structure called a (6)___________-__________. Therefore, the genes located in this deletion loop cannot be involved in (7)________________, as they are inherited as a unit, and the map distances between them will appear to be (8)__________.

(1) maternal (2) paternal (3) recombination frequencies (4) deletion heterozygotes (5) prophase I (6) deletion loop (7) recombination (8) zero

Most individuals with reciprocal (13)_________________ are normal because they have neither lost nor gained genetic material, so the same (14)__________ are produced. However, if one of the (15)_______________ occurs near or in a gene, that gene's function may change or be destroyed. Like (16)______________, reciprocal (17)_________________ may result in decreased (18)____________________, but for (19)__________________ reasons. Translocations can lead to (20)_____________. In normal cells, genes called (21)________________________ control division. Translocations that move these genes elsewhere may turn them into tumor causing (22)__________________, which are (23)__________ of function alleles that makes proteins with altered structure or expression that leads to endless cell division. (24)_____________-_________________ is another example of a cancer caused by a bad (25)__________________, which involves genes that code for (26)____________________.

(13) translocations (14) proteins (15) breakpoints (16) inversions (17) translocations (18) fertility (19) different (20) cancer (21) proto-oncogenes (22) oncogenes (23) gain of function (24) Burkitt Lymphoma (25) translocation (26) antibodies

(1)_____________ are another type of retrotransposon, but they end in (2)_____________________ (LTRs), which are sequences repeated in the same (3)_______________ at both ends, and these HERV retrotransposons are similar in structure to the integrated DNA copies of (4)_______________, indicating that retroviruses evovled from thsi kind of retrotransposon, hence we call them HERVs or (5)_____________________________________. Because retrotransposons look like (6)________ with their poly A tail, and encode reverse (7)________________ (the pol gene) and look like retroviruses made us ask if they moved around the genome via an RNA intermediate. Experiments in (8)___________ confirmed that they do. A copy of a (9)_______________________ in one yeast had an (10)____________ in its gene, but the intron was removed during transposition, because the removal of intros occurs only in an (11)____________ intermediate, this proved that retrotransposons moved through an (12)_______ intermediate.

(1) HERVs (2) long terminal repeats (3) orientation (4) retroviruses (5) human endogeneous retroviruses (6) RNA (7) transcriptase (8) yeats (9) Ty1 retrotransposon (10) intron (11) mRNA (12) RNA

(1)__________________ are large mutations where part of one chromosome becomes attached to a (2)___________________ chromosome. (3)___________________ translocations are the most common type of translocation, where parts of two (4)_________________ chromosomes exchange places. A translocation between chromosome (5)______ and _______ forms a breakage in an (6)_________ of the ________ gene (a proto-____________) and brings it from chromosome (7)______ next to the (8)_____ gene of chromosome (9)________, creating what is called the (10)_________________ chromosome, which creates a fused (11)___________ mRNA which makes a Bcr/C-Abl fusion protein which leads to (12)_________________-_______________, which produces too many ___________________________.

(1) translocations (2) nonhomologous (3) reciprocal (4) nonhomologous (5) 9 and 22 (6) intron, C-Abl, proto-oncogene (7) nine (8) Bcr (9) twenty-two (10) philadelphia (11) Bcr/C-Abl (12) myelogeneous leukemia, too many white blood cells

A Robertsonian translocation between one of the two copies of chromosome (10)______ and one of the two copies of chromosome (11)______ will make a (12)__________________ normal individual, who is a translocation (13)______________________, and some of their cells will undergo the (14)___________________ segregation pattern ((15)_____+______ and ______+______) to make gametes that have a large chunk of chromosome (16)_______ twice. One copy is the normal chromosome 21 that is from the adjacent I pattern (T1 + N2 or T2 + N1) while the other translocation chromosome has another chunk of chromosome 21 within it. At fertilization, if a gamete with this duplication of that part of chromosome 21 unites with normal gamete, then that zygote will be (17)______________ for this portion of chromosome 21, and will exhibit (18)_________ syndrome, although the majority of people with Down syndrome arise from having three separate fully intact copies of chromosome 21. The tiny chromosome from the Robertsonian translocation carries so few genes that it can be lost (19)_______________ effect.

(10) 14 (11) 21 (12) phenotypically (13) heterozygote (14) adjacent one (15) T1 + N2 and T2 + N1 (16) 21 (17) trisomic (18) Down (19) without

Three (16)________________ patterns are possible in the translocation heterozygote, (17)________________ (N1 + N2 and T1 + T2) which are balanced, (18)_______________________ (T1 + N2 and T2 + N1), and (19)____________________ (T1 + N1 and T2 + N2), which are both unbalanced. In an alternate segregation pattern, (20)____ and ____ go as a clump together to the same pole, while (21)____ and ____ go as a clump to the other pole, and as each is split down the middle, each gamete receives all necessary (22)__________ present between the two vertically aligned (23)_______________ after meiosis (24)_________. Because only the alternate segregation pattern will make (25)_____________ gametes and thus (26)_____________ zygotes, while the adjacent 1 and adjacent 2 segregation patterns will make imbalanced gametes that are missing genes, and thus unviable zygotes, corn that is (27)__________________ for a translocation between two nonhomologous chromosomes will have (28)__________________, where some of its kernels will disappear as they are from the genetically unbalanced gametes that arose from the (29)_______________ and ______________ segregation patterns that this corn contributed to make those zygotes, whereas the fully formed kernels are from the genetically balanced gametes that arose from the (30)_______________ segregation pattern in (31)________________.

(16) segregation (17) alternate (18) adjacent I (19) adjacent II (20) T1 and T2 (21) N1 and N2 (22) genes (23) chromatids (24) meiosis two (25) balanced (26) viable (27) heterozygous (28) semisterility (29) adjacent one and adjacent two (30) alternate (31) meiosis I

The viable progeny of a (36)__________/____ heterozygote will receive an in tact balancer chromosome, or a wildtype chromosome, but will (37)____________ contain a chromosome with parts from both the original balancer an the original wildtype chromsome. In addition, a (38)___________-____________ mutation prevents the survival of the balancer chromosome homozygotes, so the only surviving organisms are (39)_________-___________ homozygotes that have not undergone recombination.

(36) balancer/+ (37) never (38) recessive lethal (39) wild-type

(1)__________________ translocations arise from breaks at or near the (2)__________________ of two (3)__________________ chromosomes. The reciprocal exchange creates a large (4)__________________ (central (5)________________) chromosome, and one (6)__________ chromosome with almost no genes. This tiny chromosome can then be (7)__________ from the organism. Essentially, two (8)_______________ chromosomes may fuse to make a (9)_________________ chromosome.

(1) Robertsonian (2) centromeres (3) acrocentric (4) metacentric (5) centrosome (6) tiny (7) lost (8) acrocentric (9) metacentric

The mechanisms by which (1)__________-containing or (2)_____-containing retrotransposons are similar they both begin with (3)________________ of the retrotransposon. In (4)______________________, the mRNA codes for a protein that has both endonuclease and reverse transcriptase activity. The reverse transcriptase first makes a single stranded cDNA, then it makes it into a double stranded cDNA, then the (5)_________________ enzyme cuts the target DNA in the genome and inserts the transposable element made of (6)________. Thus for retrotransposons, the original copy remains in its original place while the new copy exists elsewhere. (7)_________________ retrotransposons follow a more complicated process.

(1) poly-A-containing (2) LTR (3) transcription (4) LTR retrotransposons (5) endonuclease (6) cDNA (7) poly-A containing

In (1)_______________ segments of a chromosome, the (2)______________ of genes, the (3)______________ of genes, and the (4)______________________-direction of genes is the same between two genomes. (5)_______________-rearrangement means that the human genomes and mouse genomes are made of (6)_____________ blocks, just ordered differently. Two types of events reshape genomes: (7)________________, which reorganize the DNA sequences within one or more chromosomes, and (8)________________ in chromosome __________________, involving losses or gains of entire chromosomes or sets of chromosomes. These may affect gene activity or gene transmission by altering the (9)_______________, (10)_______________, or (11)___________________ of genes within a cell. These alterations often, but not always, led to genetic (12)_________________ that is harmful to the (13)__________________ or its (14)___________________.

(1) syntenic (2) identity (3) order (4) transcriptional-direction (5) Chromosomal rearrangement (6) syntenic (7) rearrangements (8) changes in chromosome number (9) position (10) order (11) number (12) imbalance (13) organism (14) progeny

Crossovers between repeats of the same sequence on the same chromosome can result in a (1)________________ if the repeats are in the same (2)_________________, or in an (3)__________________ if the repeats are in (4)_________________ orientations. If two homologous chromosomes misalign at the region of the repeated sequence and (5)_________-over, the result may be both a (6)______________ and a (7)________________. Crossovers between repeated sequences on nonhomologous chromosomes result in (8)________________-_______________. A genome that only contains (9)___________ genes can result in over a billion different kinds of (10)___________________ due to programmed gene (11)___________________. However, if the enzymes (12)________ and ________, which catalyze the rearrangements that produce a diversity of antibodies, make an error, and produce a reciprocal translocation between human chromosomes (13)___________ and ____________, a cancer called (14)___________ ________________ can be caused.

(1) deletion (2) orientation (3) inversion (4) opposite (5) cross-over (6) deletion (7) duplication (8) reciprocal translocations (9) 23,000 (10) antibodies (11) rearrangements (12) RagI and RagII (13) eight and fourteen (14) Burkitt lymphoma

Chromosomal rearragements include (1)______________, which remove genetic material, (2)________________, which add genetic material via (3)________________ or (4)_____-_________________ repeats, (5)______________, which are (6) half-______________ rotations of a chromosomal region, and (7)__________________-___________________, in which two (8)_______-____________________ chromosomes exchange parts. Heritable rearrangements are transmitted through the (9)_________ _________ cells. A (10)______________ duplication is where the duplicated regions are adjacent. A (11)________-_________________ duplication is where the duplicated regions are separate. Therefore, non-tandem duplications are sometimes called (12)______________ duplications.

(1) deletions (2) duplications (3) tandem (4) non-tandem (5) inversions (6) half-circle (7) reciprocal-translocations (8) non-homologous chromosomes (9) germ line cells (10) tandem (11) non-tandem (12) dispersed duplications

A (1)___________________ inversion flips the centromere, and a (2)__________________ inversion does not flip the centromere. The inversion will still end up fitting in with the (3)________ to ________ direction of the surrounding DNA. Most inversions do (4)______ affect the phenotype, because although they alter the (5)___________ of genes along a chromosome, they do not change the number of genes. However, genes located across a (6)__________-point can be mutated. Inversions can also move genes to a new chromosomal (7)_________________, altering expression. By being in a new environment, a gee may be moved near an (8)_______________ sequence, which would cause it to be transcribed in tissues where it normally wouldn't be, or it could be moved near to (9)________________, and be hidden by (10)________________-____________ variegation. Inversion heterozygotes (11)_____/_____ form an (12)_____________ loop in (13)_____________-___ of meiosis to maximize homologous pairing.

(1) pericentric (2) paracentric (3) 5' to 3' (4) not (5) order (6) break-point (7) environment (8) enhancer (9) heterochromatin (10) position-effect variegation (11) In/+ (12) inversion loop (13) prophase I

(1)________________________ can affect the (2)______________________. The (3)____________________ or (4)__________________ of the effect depends on if the organism is (5)________________________ or _______________________ for the affected genes. These rearrangements can also alter (6)____________-over in the individual, or the individual's (7)________________. (8)__________________ remove DNA from the genome. Small deletions may only affect (9)________________ gene, whereas large deletions may affect (10)___________________ of genes. The deleted genes on a chromosome can be considered (11)_________________, as they have a complete loss of function, and the chromosomes containing large deletions are symbolized with (12)______. Homozygotes (13)_____/_____ or hemizygotes (14)_____/_____ do not survive, as long as any of the deleted genes were necessary for life. The (15)_______________ the deletion, the more likely the homozygote will be viable.

(1) rearrangements (2) phenotype (3) existence (4) severity (5) heterozygous or homozygous (6) crossing over (7) fertility (8) deletions (9) one (10) hundreds (11) amorphic (12) del (13) del/del (14) del/Y (15) smaller

(1)___________________________ move via an RNA intermediate. (2)______________________ transcribes the element into an RNA that then encodes a reverse (3)_______________ enzyme, which then copies the RNA into a single strand of (4)__________, which is the template for making double stranded cDNA. Many retrotransposon RNAs also encode polypeptides other than reverse (5)_______________. Some retrotranspososns have a single (6)__________ tail at the (7)________ end of the RNA-like (8)_______________ DNA strands. In humans, two major types of polyA containing retrotransposons are (9)_________ (long interspersed elements) and (10)__________ (short interspersed elements).

(1) retrotransposons (2) RNA polymerase (3) transcriptase (4) cDNA (5) transcriptase (6) poly A (7) 3' (8) nontemplate (9) LINEs (10) SINEs

There are two groups of transposable elements: (1)__________________ and (2)____________________. Retrotransposons transpose via reverse (3)__________________ of an RNA intermediate, such as via the drosophila (4)_______ mechanisms. (5)________________ move their DNA directly without an RNA intermediate, such as the elements that lead to corn mottling discovered by (6)_______________________. The human genome has (7)_____________ transposable elements that make up (8)____________ of its length. 90% of transposable elements in humans are (9)______________________. Movement of (10)___________________ elements can be found in the human genome when we compare it to the genome of chimpanzees, while more recent transposable element activity can be found by comparing different human genomes. Since the time of our common ancestor with chimpanzees no (11)________________ have moved and only a few (12)______________________ have moved. The low rate of transposable elements in humans is due to them accumulating (13)______________.

(1) retrotransposons (2) transposons (3) transcription (4) Copia (5) transposons (6) Barbara McClintock (7) four million (8) 44% (9) retrotransposons (10) transposable (11) transposons (12) retrotransposons (13) mutations

(1)___________________ duplications are where repeated copies lie adjacent to each other. (2)________________ duplications, or dispersed duplications, involve copies that lie far apart on the same chromosome, or on different chromosomes. (3)_____ the symbol that represents a chromosome carrying a duplication. Most duplications do not have an effect on the (4)_________________ because additional (5)____________ of most genes has no effect. Tandem duplications can have the (6)___________ or (7)______________ orientations. However, duplications can result in phenotypic effects in two ways. Some (8)________________ might be more susceptible to an increase in the dosage of a gene or a number of genes. Second, a (9)___________ near the (10)______________ of a duplication may have altered expression because it is found in a chromosomal environment that does not occur normally. (11)_____/______ duplication heterozygotes may also show unusual phenotypes.

(1) tandem (2) nontandem (3) Dp (4) phenotype (5) dosage (6) same (7) opposite (8) phenotypes (9) gene (10) border (11) Dp/+

Any segment of DNA that moves from place to place in the genome is a (1)____________________ element. Most transposable elements are (2)___________, and only help themselves, and not the organism. But some help the organism, such as the organism (3)______________, as this species doesn't contain the (4)_______________ repeats that (5)_________________ extends, and instead some transposable elements jump to the ends to keep chromosome (6)__________ the same in drosophila without shortening. Most transposable elements are (7)__________ to _________ base pairs in length. We know that transposable elements move because when drosophila were separated from (8)__________ flies, since that time we look at their DNA and certain segments have (9)____________ since that time.

(1) transposable (2) selfish (3) drosophila (4) TTAGGG (5) telomerase (6) length (7) fifty to ten thousand (8) copia (9) moved

(1)________________, which do not require an RNA intermediate, have (2)___________________ repeats on their ends. The inverted repeat is (3)______ to _______ base pairs long. DNA between the inverted ends of the transposon codes for the enzyme (4)_________________, which recognizes these inverted repeats to catalyze transposition. The transposase removes the (5)_______________ from its original location and moves it to another location. The (6)_____________________________ at the transposons original site is repaired in different ways in different circumstances. In (7)______________, after a transposon called a (8)_____ element is excised, DNA (9)_________________ widen the gap, then repair it either with a sister chromatid (which can't result in (10)__________ recombination), or a homologous chromosome (which (11)________ result in mitotic recombination) which are both forms of (12)__________________ break repair. If the template contains the P element, then double strand break repair will perfectly recreate a copy of the P transposon element in the excised region, so it will look like the transposon just increased in number. If the template does not have a copy of the P transposon in it, then the filled-in gap will not be filled in with another (13)_____________, thus it will look like the p element left one location and entered a new location, without making new copies of itself.

(1) transposons (2) inverted (3) 10 to 200 (4) transposase (5) transposon (6) double strand break (7) drospphila (8) P-element (9) exonucleases (10) mitotic (11) can (12) double strand break repair (13) transposon (14)

Drosophila that are duplication heterozygotes for the gene (12)____________ have unusual phenotypes, and drosophila that are deletion heterozygotes (13)_____/______ also have unusual phenotypes, because the gene Notch+ is highly susceptible to altered dosage. Very large duplications can be dangerous, because the accumulated small effects of the extra (14)__________ of many genes will lead to death. This is why duplications of entire (15)_________________ in humans is usually lethal. Individuals homozygous for a tandem duplication (16)____/______ may experience unequal (17)__________-over, generating increases to three or decreases to one copy of the duplicated region in the chromosomes in the (18)__________________. As an example, drosophila with one X chromosome containing one copy of the region (19)_________ will have wildtype eyes, flies with X chromosomes containing two copies of the same region will have (20)___________ eyes, and three copies of the same region will have (21)___________________ eyes. Bar eyes are an example of a duplication effect on phenotype due to (22)_______________ of the gene in a new environment. If the Bar gene is brought near the (23)_________________ of another gene, it will be transcribed far more often, and the more it is transcribed, the narrower the eyes.

(12) Notch+ (13) del/+ (14) dosage (15) chromosomes (16) Dp/Dp (17) crossing over (18) gamete (19) 16A (20) Bar eyes (21) double-Bar eyes (22) placement (23) enhancer

Deletions, duplications, inversions, and reciprocal-translocations arise from either chromosomal (13)________________, which could be produced by (14)____-________, or (15)__________________ recombination. If a single chromosome suffers (16)_______ different (17)_________-______________-breaks, removal of the detached fragment and subsequent repair via (18)_______-______________-____________-______________ will attach the two flanking regions, causing a deletion. If the detached fragment rotates by (19)_________ degrees, an inversion will result. Breakage of two homologous chromosomes or sister chromatids at (20)_____________ locations can result in a (21)___________ or ____________ if the detached chromosome ends swap places before they are (22)_______________, and this does not result reciprocal translocation because both homologs or sister chromatids swap the same kinds of genes. Breakage of two nonhomologous chromosomes can result in (23)_______________-_______________ if the broken ends switch places before repair and fusion. Rare reciprocal crossover events between two sequences on the same chromosome or on two different chromosomes can also result in (24)___________________. Simple tandem repeat sequences, like (25)_______ loci, can be swapped by (26)___________________ enzymes that recognize both of them, and allow them to swap places, or these repeats can also be (27)_________________ elements, which don't just swap places, but are actually (28)__________ into other parts of the genome, allowing the genome to accumulate thousands of copies of them.

(13) breakage (14) X-rays (15) aberrant (16) two (17) double-strand-breaks (18) non-homologous end joining (19) 180 degrees (20) different (21) deletion or duplication (22) repaired (23) reciprocal translocation (24) rearrangements (25) SSR (26) recombination (27) transposable (28) copied

A (16)_______________ ____________________ is an organism heterozygous for a deletion, and can survive if their normal chromosome contains all the missing genes. however, in cases of (17)____________________, deletion heterozygotes that contain all normal alleles present in one copy may still have the mutant phenotype, where half of the normal (18)__________ dosage does not produce enough protein product to confer the normal phenotype. However, often times a deletion heterozygote will still look normal, because only (19)_____________ genes in the human genome are haploinsufficient. However, very (20)_____________ deletions are lethal, regardless of heterozygosity, because the small effects of lower dosages for many (21)__________________ genes adds up. Deletion heterozygotes are also susceptible to (22)______________, as only one functioning allele remains. It's also possible for a deletion to uncover a (23)______________ allele on the other chromosome, such as the (24)______________ eye color being uncovered in deletion heterozygotes. If a recessive allele is (25)___________ after a deletion has occurred, the gene lies in the region of the deletion. If a recessive allele is (26)_______ uncovered after a deletion has occurred, then the gene that involves the recessive allele does not reside in the region of the deletion, on the opposite, intact chromosome. The uncovering of a recessive mutant allele demonstrates a (27)________ of ________________, because neither the (28)___________ nor the (29)__________ allele can restore the (30)___________ phenotype.

(16) deletion heterozygote (17) haploinsufficiency (18) gene dosage (19) 800 (20) large (21) haploinsufficient (22) mutations (23) recessive (24) scarlet (25) uncovered (26) not (27) lack of complementation (28) deletion (29) mutant (30) wildtype

If the inversion is (22)_______________ and a single crossover happens within the (23)_____________ loop, the resulting chromosomes will be imbalanced not only in gene (24)___________, but also their number of (25)________________. The (26)_________________ chromosome product will lack a centromere, and the (27)_________________ chromosome product will contain two centromeres. The (28)_______________ fragment will be lost, as it will not be included in the nuclei of any gametes. At (29)___________-____, the dicentric (30)_________________ is pulled towards both poles, and breaks at a random position in the chromosome. Both of these fragments contain large (31)______________.

(22) paracentric (23) inversion loop (24) number (25) centromeres (26) acentric (27) dicentric (28) acentric (29) anaphase I (30) chromatid (31) deletions

Another type of FISH analysis is called (6)____________ ___________, which attaches different flourescent codes to different regions of the same chromosome, creating a (7)___________ pattern, which can reveal the presence of a (8)_____________. (9)___________________ of genomic DNA reveal (10)_________________ or ______________ too small to be revealed by barcoding. Geneticists hybridize a (11)____________ to an array of millions of fragments of DNA representing fragments of an individual's genome. The presence of duplications or deletions is revealed by areas of (12)__________________ or (13)________________ hybridization on the microarray. (14)__________________ can reveal deletions or duplications at the highest resolution, at the level of single (15)______________ pairs, where more (16)_________ of a region will indicate a (17)_____________, and fewer reads of a region will indicate a (18)_____________.

(6) multicolor banding (7) barcode (8) deletion (9) microarrays (10) deletions or duplications (11) probe (12) increased (13) decreased (14) sequencing (15) nucleotide (16) reads (17) duplication (18) deletion

In a translocation heterozygote (9)___________, where of the total 8 chromatids between the four homologs in two homologous pairs, one of the (10)_____________ in each pair contains (11)________ normal alleles, while the other homolog in each pair contains two (12)__________________ alleles, the four relevant chromosomes assume a (13)______________ shape to maximize pairing. The genes on the two normal chromosomes (14)_____ and ______ are shown in lower case letters. The genes on the two translocation chromosomes (15)______ and ______ are shown in upper cased letters.

(9) T/+ (10) homologs (11) two (12) translocation (13) cruciform (14) N1 and N2 (15) T1 and T2


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