Ch. 6.5 Genetic Disorders Flashcards
What are autosomes?
22 of 23 pairs (46 chromosome) that are perfectly matched in both females and males
What gene determine development of male chracteristic
Y chromosome
What is Non-disjuction?
Failure of chromosomes to separate correctly during meiosis l or meiosis ll
What is Aneuploidy?
Abnormal chromosome number
How is Down syndrome caused?
Down syndrome occurs when it has extra copy of chromosome 21
What is XXX chromosome called?
Trisomy X
What is XO Chromosome called?
Turnover syndrome
What is XXY Chromosome called?
Klifelter Syndrome
What is XYY Chromosome
Normal Male
What are genetic disorders?
Particular mutant alleles that survives and become common in population and produce harmful effects
What is sickle-cell anemia?
Autosomal recessive disease where hemoglobin gene is mutated and cause abnormal formation of red blood cells, carry reduced capacity of oxygen
What is Tay Sachs?
Autosomal recessive disease where HEXA gene that codes for lysosomal enzyme is mutated and cause brain deterioration leading to death mostly before born
What is cystic fibrosis?
Autosomal recessive disease where chloride channel gene is mutated and cause alter water balance inside the cells
It leads to excessive amount of mucus affecting lung, liver, pancreas
What is Hutington’s disease?
Autosomal dominant disease where CAG nuclotides repeats are inserted into gene that increase how many glutamine amino acids are incoporated into protein
It leads to brain deterioration and starts at early 30s
What is Hemophilia?
Recessive X-linked disease that affects gene involved in blood-clotting
