Genetics Flashcards by James Ozorkiewicz

The carrier of genetic information

Chromosome

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An ordinary chromosome; does not determine sex

Autosome

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

diploid

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– Have the same linear sequence of genes
– Look alike
– Pair during meiosis

Homologous chromosomes

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

Locus

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

Centromere

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protect the tips of chromosomes

telomere

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shorten with each cycle of cell division (age)

telomere

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gametic number (eggs and sperm)

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somatic number (ordinary body cells)

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chromatin

relaxed chromsomes

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copying DNA to RNA (mRNA) in nucleus

transcription

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assembly of new protein using mRNA

translation

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contain 23 pairs of chromosomes (total = 46)

human somatic cells

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The two chromosomes that make up each pair are called

homologous chromosomes

homologs

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the cell is not dividing, but cell replicates DNA here

interphase

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G1, S, and G2

interphase

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replication of DNA occurs in

S phase

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

Mitotic phase (Prophase, Metaphase, Anaphase, Telophase)

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exit from cell phase

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the chromatin fibers change into chromosomes

Prophase

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

metaphase

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

anaphase

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

telophase

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When does cytokinesis occur

usually begins in late anaphase

plasma membrane constricts in middle forming....

cleavage furrow

___ begins when cytokinesis is complete

interphase

- the cell is not dividing - The cell replicates its DNA in S Phase - Consists ofthree phases, G1, S, and G2

interphase

the chromatin fibers change into chromosomes.

prophase

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

metaphase

reproductive cell division that occurs in the gonads (ovaries and testes) that produces games with half the number of chromosomes

meiosis

gametes contain a single set of 23 chromosomes

haploid cells

restores the diploid number of chromosomes (46)

fertilization

begins with a diploid cell and ends with two cells having the haploid number of chromosomes;

Meiosis I

In ____ , each of the two haploid cells divides, and the | net result is four haploid gametes that are genetically different from the original diploid starting cell.

Meiosis II,

gametes are produced by

meiosis

is a reductive division from 2n to n

meiosis I

Meiosis I ends with __ haploid cells

2 haploid cells

Meiosis II ends with ___ haploid cells

4 haploid cells

crossing over happens here (exchanging genetic information)

Prophase I

formation of tetrads (post crossing over) occurs here

Prophase I

consists of decoupling each chromosome's sister strands (chromatids), then segregating the DNA into two sets (each set having one of each homologue)

Meiosis II

In Meiosis II, Two haploid cells with replicated ___ ___ go to form four haploid cells with __, ___ molecules of DNAs

sister chromatids single, unreplicated

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

crossing over

chiasmata is....

site of crossing over or where chromosomes touch / overlap

which chromosome determines sex in mammals?

in humans there are 22 pairs of _____ and one pair of ___

autosomes; sex chromosomes

How many sister chromatids in homologous chromosomes?

4 total chromosomes with two sets of sister chromatids

A person with the same alleles on homologous chromosomes (for example, AA or aa) is said to be ____ for that gene

homozygous

An individual with different alleles on homologous chromosomes (Aa) is said to be _____ for that gene (or trait, or protein… same thing)

heterozygous

The _____ refers to genetic makeup of an individual

genotype

the ____ refers to their physical or outward appearance (the expression of the gene)

phenotype

masks the other allele

dominant allele

is masked by the dominate allele

recessive allele

There are two antigens and two antibodies responsible for ABO types; name all four

Type A - has Anti-B antibody Type B - has Anti-A antibody Type AB - has neither antibody Type O - - has Both Anti-B and Anti-A antibody

ABO type is determined by

glycocalyx carbohydrates

To determine the ABO type, blood is are mixed with different _____ of known type. Agglutination occurs when the red cell antigens (which are unknown) correspond to the ____ in the antisera (which are known). This is called forward typing.

antisera antibodies

Dwarfism

The most common cause of dwarfism is

achondroplasia

genetic disorders in bone or cartilage development causing dwarfism

(skeletal dysplasias such as achondroplasia)

Forms of extreme shortness characterized by proportional body parts usually have a hormonal or nutritional cause such as growth hormone deficiency

(AKA “pituitary dwarfism”)

85% of children with _____ are born to average size parents

achondroplasia

achondroplasia means a de novo mutation

mutation prior to conception

Punnet square

inheritance chart

aa would cause

albinism

The Punnett square gives the possible ____ and the ratio of their probabilities, from which _____ information can be derived.

genotypes | phenotype

_____ is when an individual is born | with chromosomes added or missing

Aneuploidy

In _____ the cells are missing 1 | chromosome

monosomy

In _____ cells have an additional chromosome. A common trisomy is Down Syndrome (trisomy 21) where the cells have three of the number 21 chromosome

trisomy

Rh in Blood type - Considered as three closely linked genes, the gene of major importance is the Rh or D gene having the alleles

– D, dominant – d, recessive The major antigen Rh or D is the most common cause of hemolytic disease of the newborn (AKA erythroblastosis fetalis when the D antigen is involved)

Genotype Phenotypes for Rh

DD Dd dd | Rh positive Rh positive Rh negative

Hemolytic disease of the newborn is with __ mother and __ fetus; mother produces anti-Rh antibodies

Rh- mother | Rh+ fetus

treatment for mother is IgG anti-D antibodies

Rhogam

meiosis followed by spermatogenesis produces sperm with

X or Y chromosome

an persons sex is determined by the

father

all females oocytes are XX

True

fertilization with Y containing sperm produces a

male

sex linkage is synonymous with X linkage

true

X linkage refers to genes on the---

X chromosome

Males transmit X chromosomes only to

their daughters

father to son inheritance

heterogamete to heterogamete inheritance

(meaning “not coming apart”) is the failure of chromosome pairs to separate properly during cell division. – Loss of a single chromosome through nondisjunction results in a ____ – Gain of a single chromosome is a ____.

Nondisjunction monosomy trisomy

Karotype: 47, XX, +21 means

Trisomy 21

Termed Klinefelter’s syndrome, it is the most common human sex chromosome disorder. Symbology is 47, XXY. This is not hermaphroditism.

AKA XXY.

most common human sex chromosome disorder

klinefelters or 47, XXY (not hermaphroditism)

Termed Turner’s syndrome

AKA XO. or 45, XO

simple squamous where?

epithelial membranes and lines blood vessels

columnar where?

digestive tract and organs

pseudostratified ciliated columnar?

Upper respiratory tract i.e. trachea

transitional where?

bladder

cuboidal where?

ducts and sweat glands