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IPAP A&P 1 Chance > Cell Genetics > Flashcards

Cell Genetics Flashcards

(41 cards)

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1
Q

Define Genetics and Genes

A

Genetics: Study of genes which are the units of inheritance

Genes: a Hereditary unit consisting of a specific sequence of DNA that occupies a specific location on a chromosome

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2
Q

Define Chromosome

A

Carrier of genetic Information that present differently in different cell types

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3
Q

Define Chromosomal Abnormalities

A

Difference of Chromosomal Structure or Transcription

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4
Q

Give three examples of Nondisjunction

A

Down Syndrome (Trimosy 21) Turner Syndrome (X0), Linefelter Syndrome (XXY), Triple X Syndrome

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5
Q

Define the difference between Transcription and Translation

A

Translation: copying of a specific genetic sequence to produce the corresponding sequence of mRNA, happens in Nucleus

Transcription: Assembly of a new protein using its amino acid building blocks as specified by the mRNA, occurs in cytoplasm by Ribosomes

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6
Q

Homologous

A

Chromosomes of the same kind, same linear sequence of genes, look alike, pair during Mieosis

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7
Q

Dipold

A

Two of every general type of chromosome in ordinary blood cells

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8
Q

Locus

A

Position of a gene on its chromosome, position on genetic map

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9
Q

Centromere

A

region(S) of a chromosome with which the spindle fibers become associated during mitosis and meiosis

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10
Q

Telomere

A

The Natural unipolar chromosome ends in eukaryotes, protects the tips from erosion and sticking together

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11
Q

Linkage Group

A

Group of gene loci that can be placed in linear order which tends to be inherited together

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12
Q

Gametic Number

A

Number of Chromosomes in gametes (egg and Sperm) of an organism, (represented by N)

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13
Q

Somatic Number

A

Number of chromosomes in ordindary blood cells of an organism, 2n

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14
Q

Chromatin

A

All the Chromosomes together in a dispersed form

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15
Q

Heterochromatin

A

Inactive form, condensed

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16
Q

Euchromatin

A

Active Form, visible under light microscopy

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17
Q

Somatic Cell Divison

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A

Process where single somatic cells divide into two daughter cells

18
Q

Mitosis

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A

Qualitative and quantitative division of nuclear genetic material

19
Q

Cytokinesis

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A

Cytoplasmic Division/Distributes cytoplasmic constituents among the new cells

20
Q

Describe Prophase

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A

chromatin fibers condense; nuclear membrane and nucleoli disappear; microtubule organizing center (centrosome) produces mitotic spindle apparatus which elongates and attaches to kinetochores; centrosomes move to opposite poles pushed by lengthening microtubules

21
Q

Describe Metaphase

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A

duplicated chromosomes line up on metaphase plate; chromatids parallel equator; spindle microtubules attach to the kinetochores (many connections were already made during prophase)

22
Q

Describe Anaphase

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A

centromeres split; chromosomes move apart from each other; cleavage furrow forms

23
Q

Describe Telophase

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A

terminal phase; chromosomes have moved as far apart as they are going to; mitotic spindle disappears; chromosomes decondense and unwind into chromatin; cytokinesis occurs; nucleus/nuclear envelope reconstituted; nucleoli reappear

24
Q

The human karyotype must consist of what?

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A

22 pairs of autosomes, 1 pair of sex chromosomes

25
What is the function of Meiosis?
Reduce Chromosome number to that of body cells Produce Gametes Increase viability through crossing over
26
Describe and Tell the Phases of Mitosis
Prophase - chromatin fibers condense; nuclear membrane and nucleoli disappear; microtubule organizing center (centrosome) produces mitotic spindle apparatus which elongates and attaches to kinetochores; centrosomes move to opposite poles pushed by lengthening microtubules Metaphase - duplicated chromosomes line up on metaphase plate; chromatids parallel equator; spindle microtubules attach to the kinetochores (many connections were already made during prophase) Anaphase - centromeres split; chromosomes move apart from each other; cleavage furrow forms Telophase - terminal phase; chromosomes have moved as far apart as they are going to; mitotic spindle disappears; chromosomes decondense and unwind into chromatin; cytokinesis occurs; nucleus/nuclear envelope reconstituted; nucleoli reappear
27
Describe Allele
One or two or more alternative forms of the same gene, occupy the same locus on a particular chromosome or linkage group
28
What is a De Novo Mutation?
New Mutation that was not inherited from either parent
29
What is a mutation>?
An inheritable change in DNA, changes nucleuotide sequence of genetic material, mutations give rise to alleles or new genes
30
What is the difference between a Somatic and Germ line mutation?
Somatic mutation- not involving reproductive cells and generally transmitted to next generation Germ Line- Passed to the next generation
31
What is Homozygous?
Same allele at specified gene loci in homologous chromosome segments (AA, aa)
32
What is Heterozygous?
different alleles at specified gene loci in homologous chromosome segments (Aa or Jk^a Jk^b)
33
What is Hemizygous?
genes that are present only once in the genotype; not in the form of pairs of alleles; occurs in haploids, differential segments of sex chromosomes, diploids as result of aneuploidy or loss of chromosome segments
34
What is Genotype and Phenotype?
Genotype - genetic makeup of an organism or virus Phenotype - observable properties or traits of a cell or organism; results from interaction of genotype and environment
35
Carrier (genetic carrier)
individual heterozygous for a recessive gene; able to produce offspring with homozygous disease condition
36
What are the parts of Mendelian inheritance
Law of Segregation: gametes are haploid Law of Independent Assortment: various alleles of given gene that reside in gametes is unaffected by various alleles of other genes)
37
At what chomosome does Blood typing lie on the genetic spectrum?
Chromosome 9
38
Describe the 5 blood types and their components
‣ A = A antigen present; Anti-B antibody present ‣ B = B antigen present; Anti-A antibody present ‣ AB = Both A and B antigens present; Neither antibody present ‣ O = Neither A nor B antigen present; Both Anti-A and Anti-B antibodies present Bombay
39
What is the most common cause of Dwarfism?
Achondroplashia, 70%, Bone growth disorder
40
Describe the most common cause of albinism?
Deficiency in the last step of the pathway wherein tyrosinase acts on tyrosine to produce melanin
41
Punnett Square
Assist in to determining Dominent and recessive traits by mathmatical probabilities/ 75% probability of dominent phenotype)

IPAP A&P 1 Chance (6 decks)

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