Block 1 - Genetics Flashcards

1
Q

What is the term for each definition?

The carrier of genetic information.

An ordinary chromosome; one that does not determine sex of the individual.

A chromosome that is causally associated with the sex of an individual:

–X chromosome (female)

–Y chromosome (male)

A

chromosome

autosome

sex chromosome

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2
Q

Alternative forms of a gene that code for the same trait and are at the same location on homologous chromosomes are called _______.

A

alleles

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3
Q

In what process does this occur?

“The homologous chromosomes are segregated from each other, then two haploid cells are formed, each containing one of the segregates.”

A

Meiosis I

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4
Q

Chromatids of homologous chromosomes form chiasmata wherein matching regions break and then reconnect to the other chromosome.

A

Crossing over

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5
Q

What is the failure of chromosome pairs to separate properly during cell division?

This particular abnormality is responsible for what type of chromosomal abnormality?

A

nondisjunction

monosomy

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6
Q

What phase(s) are briefly described below?

the chromatin fibers change into chromosomes.

microtubules align the centromeres of the chromatid pairs at the metaphase plate.

the chromatid pairs split at the centromere and move to opposite poles of the cell; the chromatids are now called chromosomes.

two identical nuclei are formed around the identical sets of chromosomes now in their chromatin form.

A

prophase

metaphase

anaphase

telophase

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7
Q

What is the term for somatic cell division?

A

Mitosis

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8
Q

Define:

“Chromosomes of the same kind”.

What are the attributes of these “alike” chromosomes?

Humans are______, meaning there are two of every general type of chromosome in ordinary body cells—i.e. a homologous pair

A

homologous chromosomes

attributes:

–Have the same linear sequence of genes

–Look alike

–Pair during meiosis

diploid

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9
Q

Where does transcription of DNA occur?

A

in the nucleus

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10
Q

Described the process of “forward typing”.

A

Bloods are mixed with different antisera of known type. Agglutination occurs when the red cell antigens (which are unknown) correspond to the antibodies in the antisera (which are known). This is called forward typing.

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11
Q

When does “crossing over” occur?

A

prophase I

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12
Q

What disease is the most common problem with Rh incompatibility, and is associated with an Rh- mother, and an Rh+ fetus?

Blood contact is common during delivery. The mother will then produce anti-Rh antibodies, which are mostly ___ (the only class of antibody to cross the placenta), which can affect any subsequent Rh+ fetus.

A

Hemolytic diesease of the newborn

IgG

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13
Q

How many antigens and antibodies are generally responsible for the ABO blood types?

What blood types are codominant?

A

2 antigens, 2 antibodies

A and B

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14
Q

This cell cycle is a sequence of events in which a body cell duplicates its contents and divides in two?

These cells contain how many pairs of chromosomes?

These pairs are referred to as what?

A

mitosis

23 pairs (46 total)

homologous pairs (homologs)

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15
Q

What is the term for the physical expression of a gene?

What term refers to the genetic makeup of an individual?

A

phenotype

genotype

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16
Q

What system is the most complex of all RBC human blood groups because it produces over thirty antigens?

A

The Rh-hr (Rhesus) blood group system

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17
Q

Meiosis I begins with a diploid cell and ends with two cells having the haploid number of chromosomes; in Meiosis II, each of the ____ haploid cells divides, and the net result is ____ haploid gametes that are genetically different from the original diploid starting cell.

A

two

four

18
Q

How many pairs of autosomes are in a human karyotype?

A

22 pairs

19
Q

The number of chromosomes in egg and sperm of an organism. Represented by the letter “n”.

The number of chromosomes in ordinary body cells of an organism. Represented by twice the gametic number, or 2n.

A

gametic number

somatic number

20
Q

Sex linked genes are genes located on the sex chromosomes (in mammals, the X and Y chromosomes). In general usage, sex linkage is synonymous with which chromosome?

A

X chromosome

21
Q

In X-Linked inheritance,
Females transmit an X chromosome both to sons and daughters.
Males transmit X chromosomes only to their daughters

Characteristic feature of X linked inheritance is absence of __________ to __________ inheritance.
(this means absence of father to son inheritance)

All daughters of an affected male are ________ _______.

A

heterogamete to heterogamete

obligate carriers

22
Q

True or False: A person with Pp (a heterozygote) has a different genotype from a person with PP (a homozygote), but both have the same phenotype.

A

True

23
Q

What are some phenotypical aspects of:

Down’s Syndrome

Klinefelter’s Syndrome

Turner’s Syndrome

A

DS: large tongue, flat face, slanted eyes, single bilateral crease across palm, mental retardation is typicaly however some are not

KS: breast development, small testest (infertility), low serum testosterone level but high serum follicle-stimulating hormone and lutenizing hormone levels, some degree of landuagelearning impariment, intelligence may be lower than “normal”, in severe cases-increased risks shared with females: germ cell tumors, male breast cancer, osteoporosis

TS: Delayed early growth. Short stature, Hands and feet swollen or puffy at birth, Broad chest with widely-spaced nipples (even as a toddler), Produce little estrogen, therefore usually sterile and do not go through puberty, Extra skin on neck (webbed neck), Cubitus valgus (milkmaid arms), Difficulties with math and spatial concepts, Hearing and kidney problems, and heart defects are common

24
Q

What is the term that describes when an individual is born with chromosomes added or missing?

What is the term for having only one chromosome?

What is the term for having three chromosomes?

A

aneuploidy

monosomy

trisomy

25
Q

Since spermatocytes contain both an X chromosome and a Y chromosome; meiosis followed by spermatogenesis produces sperm containing either an X chromosome or a Y chromosome.

Oocytes produce only (X or Y containing?) gametes.

Therefore, an individual’s genderis determined by the (father’s or mother’s?) chromosomes?

A

Oocytes produce on X-containing

father’s chromosomes

26
Q

What is the chromosomal abnormality of:

Down’s Syndrome

Klinefelter’s Syndrome

Turner Syndrome

A

Trisomy 21

XXY (47 XXY) (trisomy)

XO (45 XO) (monosomy)

27
Q

Interphase begins when this process is complete.

What occurs in this process described above?

A

cytokinesis

Division of a cell’s cytoplasm to form two identical cells

Usually begins in late anaphase

The plasma membrane constricts at its middle, forming a cleavage furrow

The cell eventually splits into two daughter cells.

28
Q

__________ are produced by a process called meiosis, which is more complex than simple mitotic division because it has two separate cycles of division.

A

gametes

29
Q

[Vocabulary]

The position of a gene on its chromosome; the position of a gene on the genetic map

The region or regions of a chromosome with which the spindle fibers become associated during mitosis and meiosis

A

Locus

Centromere

30
Q

What are genetically determined glycocalyx carbohydrates?

The naturally occurring antibodies are large ___ antibodies. The production of which is stimulated by environmental factors. They are not produced for antigens that are on the red blood cells.

A

ABO Antigens

IgM

31
Q

What are the two types of alleles?

What is an example of both?

A

homozygous and heterozygous

AA, aa
Aa

32
Q

What is a solution of IgG anti-D antibodies given by intramuscular injection that is used to prevent hemolytic disease of the newborn (HDN, AKA erythroblastosis fetalis, AKA (less frequently) Rhesus disease), by binding to the Rh antigen and rendering it non-antigenic (“invisible” to the mother’s immune system)?

A

RhoGAM

33
Q

To determine the ABO blood type, what process is used?

A

forward typing

34
Q

What term describes an allele that dominates or masks the presence of another allele and is fully expressed?

What term describes an allele whose presence is completely masked?

A

dominant allele

recessive allele

35
Q

During sexual reproduction, each new organism is the result of the union of two_________ (fertilization), one from each parent.

What is the reproductive cell division that occurs in the gonads (ovaries and testes) that produces gametes with half the number of chromosomes?

Haploid cells are what type of cell containing a single set of how many chromosomes?

A

gametes

meiosis

gametes

23 chromosomes

36
Q

What inheritance process can be used to determine the probability of inheritance by combining different alleles?

A

Punnet square

37
Q

What is the assembly of a new protein molecule using its amino acid building blocks, as specified by the RNA (mRNA)?

Where does this process occur?

It is accomplished by the what structure of the cell-which may be free in the cytosol or affixed to the RER?

A

translation

cytoplasm

ribosomes

38
Q

What is the term for each?

The study of genes, which are the units of inheritance, their carriers the chromosomes, and the mathematical principles that govern the transmission of genes from one generation to the next.

A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism.

A

Genetics

Gene

39
Q

[Vocabulary]

What is a highly coiled and folded DNA double helix molecule combined with protein molecules?

A

chromosome

40
Q

In this phase of mitosis, the cell is not dividing.

  • The cell replicates its DNA
  • Consists of three phases, G1, S, and G2
  • replication of DNA occurs in the S phase

What phase consists of a nuclear division (mitosis) and a cytoplasmic division (cytokinesis) to form two identical cells?

A

Interphase

mitotic phase

41
Q

[Vocabulary]

DNA sequences at the tips of chromosomes that protect the tips of chromosomes from erosion and from sticking to each other. Most of these within the body cells shorten with each cycle of cell division suggesting an association with aging and death of cells.

A

telomeres