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