Chapter 3 Flashcards

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1
Q

Phenylketo Uria (PKU)

A

missing the gene for phenylalanine hydroxylase, causing a build up of phenylpyruvic acid
- This compound interferes w/ development of nervous system, leading to mental retardation

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2
Q

Cystic Fibrosis

A

caused by a mutation in the gene for the transmembrane conductance regulator protein (CFTR)

  • this protein controls movement of chloride ions across the plasma membrane
  • this results in a thicker mucus being produced
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3
Q

Autosomal Dominant

A

Pseudoachondroplasia (Dwarfism)
Huntington’s Disease
Polydactyly

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4
Q

Pseudoachondroplasia (Dwarfism)

A

caused by a gene that interferes w/ bone growth development

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5
Q

Huntington’s Disease

A

neural degeneration leading to convulsions

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6
Q

Polydactyly

A

Extra digit

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7
Q

Piebald spotting

A

white spotting

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8
Q

Recessive disease (sex linked)

A

red/green color blindness

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9
Q

Hemophilia (sex linked)

A

excessive bleeding due to lack of clotting factor (VIII)

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10
Q

Testicular Feminization Syndrome

A

chromosomally male

female external genitalia, no uterus

testes may be present in either the labia or abdomen

caused by mutation in an androgen receptor gene which results in the production of defective androgen receptor protein

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11
Q

Androgen

A

male hormone

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12
Q

Sex linked Dominant disease

A

Hypophosphatamia

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13
Q

Hypophosphatamia

A

Vitamin D resistant ricketts

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14
Q

Sex-linked (y chromosome) disease

A

No convincing of a sex-linked disease found on the y-chromosome (hairy ear rims?)

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15
Q

SRY gene

A

on y chromosome, determines maleness

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16
Q

Myoclonic epilepsy and Ragged Red Fiber Diseases (MERRF)

A

Ragged Red Fibers are found in tissues; sudden short-lived accumulation of lactic acid

17
Q

Lebers Hereditary Optic Neuropathy (LHON)

A

results in partial or total blindness occurring in midlife, caused by defects

occurs in proteins involved in the respiratory electron transport chain

18
Q

Kearns-Sayre Syndrome (KSS)

A

Paralysis of certain eye muscles
Retinal degeneration
Heart disease

19
Q

Walter Suttori and Theodore Boveri

A

Connected the parallel between the behavior genes and chromosomes

20
Q

Thomas Hunt Morgan

A

worked w/ drosophila melanogaster

-crossed white eyed males w/ red eyed females

21
Q

Calvin Bridges

A

non disjunction (ex. down syndrome)

22
Q

Chromosome structure

A
  • one DNA molecule per chromosome
  • different species highly characteristic chromosome pair numbers
  • chromosomes may vary in size w/in organisms
23
Q

Heterochromatin

A

densely staining regions representing inactivated DNA

24
Q

Centromeres

A

Regions of chromosomes to which spindle fibers attach

25
Q

Telomeres

A

Ends of chromosomes which are distinguished by distinct nucleotide sequences

26
Q

DNA is wound around a cone of __ histomes

A

8 (2 from each of 4 classes)

27
Q

Nucleosome

A
the histone cone w/ the DNA that is wrapped around it
- A clamp from the 5th class of histones is used to fasten DNA around the histone cone
28
Q

DNA between nucleosomes

A

linker DNA

29
Q

Solenoid

A

a coiled form of chromatin

30
Q

Scaffold proteins

A

special potions to which DNA attaches to produce higher level of coiling. Special regions of DNA to which scaffold proteins attach are called scaffold attachment regions (SARs)

31
Q

Cellular Life Cycle

A

G1 (GAP 1) normal cell function
S (synthesis) phase - DNA is synthesized
G2 (Gap 2) preparation for cell division
M phase - mitosis or meiosis

32
Q

Cyclin D

A
CDK 4 (cyclin-dependent kinase) - acts during middle of G1, that cause the cell to proceed to the S-phase
 - phosphorylates certain proteins
33
Q

Cyclin E-CDK2

A

acts at the G1-S boundary to initiate DNA replication

34
Q

CyclinB - CDK1

A

acts at the G2-M boundary to initiate chromosome