Does chromosomal mutation affect :

a. only eukaryotes not prokaryotes

b. only viruses

c. only prokaryotes and viruses

d.eukaryotes, prokaryotes, and viruses

e. none of the above

Changes in one or a few chromosomes

  Changes in complete sets of chromosome are variations in..

The process in which Position Effect

   and Fragile sites and fragile X syndrome are encoutered is

Amplification or deletion of genes

  Inversions that alter gene expression

  Transpositions that alter gene expression  are chromosomal rearrangment that alter what 

True or false:all genetic defects result from mutations of a

   single gene.

What percentage  of spontaneous abortions contain chromosomal

  mutations.

Visible chromosomal mutations occur in how many out of 1000 live births.

?%percent of infertile men have chromosomal mutations

 ? percent of people institutionalized for mental deficiencies have   chromosomal mutations.

1.Changes in the amount of DNA per chromosome

2.Change in arrangement of Chromosome segment:

3.Change in location of chromosome segment:

4. can they all change back into wild type?

1.Deletions and Duplications

2.Inversions

3.Translocation

Duplications, inversions and translocations can change back to wild-type.  However, deletion mutations cannot revert due to loss of DNA.

All four  types of mutations depend on what?

a break on a chromosome

Broken ends of chromosomes are sticky and can adhere to other chromosomes.

FISH( fluorescent in situ hybridization).

define:Polytene Chromosomes

In a kayotype  if deficiency is large enough we can see deletions as

1.Deletion of the dominant allele results in the - expression of the recessive allele. 

2.This called

1.Phenotypic

2.pseudodominance.

1.One human disorder caused by heterozygous deletion is Cri-du-chat syndrome what are the results the child has?

2. # infant in 50,000 live births

3. deletion on what chromosome?

1.  Severe mental retardation

 Physical abnormalitie 

Cry of the baby sounds like the mew of a cat.

2. 1

3. 5

Prader Willi syndrome results from deletion from which chromosome ?

Chromosomal mutations that cause a doubling of a chromosome segment.  These mutations have played an important role in the evolution of gene families, such as alpha- and beta-globin in hemoglobin

Heterozygous duplication results in....loops and may be detected with a microscope.

Duplication in Drosophila

1.Bar mutant on the ?-chromosome resembles(complete or incomplete) dominance. 

2.Cytological studies show that the trait is a

result of a duplication of a small segment of ? chromosome.

It is due to ? event.

X, incomplete

X,unequal crossing-over

These genes are believed to be derived from an ancestral gene that underwent duplication and subsequent sequence divergence...

Alpha-globin

Beta-globin

A chromosome mutation that results when a segment of a chromosome is excised and then reintegrated in an orientation 180 degrees from the original orientation.

     Inversion

IN A PARACENTRIC INVERSION AND PERICENTRIC :

Crossing-over occurs at the four-strand stage involving two sister or nonsister homologous chromatids. 

IN translocation is gain or loss of genetic material involved?

1.Intrachromosomal Translocation—

2.Interchromosomal Translocation

3.Nonreciprocal translocation

4.Reciprocal translocation

a.chromosomal segment changes position   within the same chromosome

 b. —transfer of a chromosome segment   from one chromosome into a nonhomologous chromosome.

c.  —exchange of segments between the   two chromosomes.

 d. —transfer of a segment in one   direction from one chromosome to another

1.a

2.b

3.d

4.c

Chronic myelogenous leukemia (CML)

It is a change in the phenotypic expression of a gene (or more genes) because of a change its position in the genome

1.is the regions of a chromosome that are condensed to during division but become uncoiled during interphase.

2.is those regions of a chromosome that remain condensed during division and interphase.

a.Euchromatin 

b.Heterochromatin 

1.a

2.b

1.Typically, transcription of genes occurs in ------ but not in the --------.

If a gene that is normally located in the heterochromatin istranslocated to the euchromatin, due to its new position what occurs to its expression?

euchromatin,heterochromatin

it is increased it is uptaken

How many  fragile sites have been identified  since the first one in 1965?

2. MALE OFFSPRING OF CARRIER FEMALES HAVE A --% CHANCE OF RECEIVING A FRAGIEL X CHROMOSOME.HOWEVER, ONLY==% ARE MENTALLY RETARDED REST ARE NORMAL

40

50%, 80%

 Individuals who are clinically normal have < # CGG repeats

What sex does the amplification of the repeats occur only in?

200

females

1.Nullsionomy

2.Monosomy

3.Trisomy

4.Tetrasomy

a. involves the loss of one homologous chromosome pair

b. involves an extra chromosome pair

c. involves a loss of a single chromosome

d. involves a single extra chromosome

1.a

2.c

3.d

4.b

State if events happens in Paracentric or in Pericentric:

 A. Segregation at anaphase I

B. Random break at dicentric bridge

C.Duplication products

a. Paracentric

b. Paracentric

c. Pericentric

In humans the probability of non-disjunction occurring increase with what?

A.ALTERNATE SEGREATGATION   

B. ADJACENT SEGREGATION

C.ADJACENT 2 SEGREGATION

1. oocurs about 50% of the time

2. occurs seldom

3. each contains complete set of genes

4.each contains duplications and deletions

5.always inviable

6.usually inviable

1. A,B

2.C

3.A

4.B,C

5.C

6.B

MALE AND FEMALES WITH FRAGILE X SYNDROME HAVE--- TO --- REPEATS IN THE FMR-1 GENE

a. 300-1300

b.250-1450

c.200-1300

d.300-750