Chapter 3 Flashcards
Phenylketo Uria (PKU)
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
Cystic Fibrosis
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
Autosomal Dominant
Pseudoachondroplasia (Dwarfism)
Huntington’s Disease
Polydactyly
Pseudoachondroplasia (Dwarfism)
caused by a gene that interferes w/ bone growth development
Huntington’s Disease
neural degeneration leading to convulsions
Polydactyly
Extra digit
Piebald spotting
white spotting
Recessive disease (sex linked)
red/green color blindness
Hemophilia (sex linked)
excessive bleeding due to lack of clotting factor (VIII)
Testicular Feminization Syndrome
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
Androgen
male hormone
Sex linked Dominant disease
Hypophosphatamia
Hypophosphatamia
Vitamin D resistant ricketts
Sex-linked (y chromosome) disease
No convincing of a sex-linked disease found on the y-chromosome (hairy ear rims?)
SRY gene
on y chromosome, determines maleness
Myoclonic epilepsy and Ragged Red Fiber Diseases (MERRF)
Ragged Red Fibers are found in tissues; sudden short-lived accumulation of lactic acid
Lebers Hereditary Optic Neuropathy (LHON)
results in partial or total blindness occurring in midlife, caused by defects
occurs in proteins involved in the respiratory electron transport chain
Kearns-Sayre Syndrome (KSS)
Paralysis of certain eye muscles
Retinal degeneration
Heart disease
Walter Suttori and Theodore Boveri
Connected the parallel between the behavior genes and chromosomes
Thomas Hunt Morgan
worked w/ drosophila melanogaster
-crossed white eyed males w/ red eyed females
Calvin Bridges
non disjunction (ex. down syndrome)
Chromosome structure
- one DNA molecule per chromosome
- different species highly characteristic chromosome pair numbers
- chromosomes may vary in size w/in organisms
Heterochromatin
densely staining regions representing inactivated DNA
Centromeres
Regions of chromosomes to which spindle fibers attach
Telomeres
Ends of chromosomes which are distinguished by distinct nucleotide sequences
DNA is wound around a cone of __ histomes
8 (2 from each of 4 classes)
Nucleosome
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
DNA between nucleosomes
linker DNA
Solenoid
a coiled form of chromatin
Scaffold proteins
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)
Cellular Life Cycle
G1 (GAP 1) normal cell function
S (synthesis) phase - DNA is synthesized
G2 (Gap 2) preparation for cell division
M phase - mitosis or meiosis
Cyclin D
CDK 4 (cyclin-dependent kinase) - acts during middle of G1, that cause the cell to proceed to the S-phase - phosphorylates certain proteins
Cyclin E-CDK2
acts at the G1-S boundary to initiate DNA replication
CyclinB - CDK1
acts at the G2-M boundary to initiate chromosome
