NSG 530 EXAM 1
Interphase
cell feeds, metabolizes and grows while replicating DNA in preparation for mitosis
Prophase
first appearance of chromosomes (will be 92)
Metaphase
Centrioles pull chromosomes to opposite sides of cell (chromatid) - 46 each side
Anaphase
Centromeres split and sister chromatids are pulled apart
Telophase
New nuclear membrane formed around each group of 46 chromosomes When it
goes right, euploid cells are produced
Nondisjunction
Error in meiosis in which homologous chromosomes fail to separate.
Polyploidy
condition in which an organism has extra sets of chromosomes
, Triploidy
when an organism has three copies of every chromosome instead of two
Tetrapoloidy
euploid has 92 chromosomes and fetus usually does not survive
Huntington's disease
Single gene disorder (trinucleotide repeat mutation)
Autosomal dominant (50% chance of passing it on)
Progressive neurologic disease with late onset (40s)
Prevention- genetic testing for pregnancy planning
Cystic fibrosis
Single gene disorder (CFTR gene mutation)
Autosomal recessive
Most common in white children
Defective transport of chloride ions cause salt imbalance- thickened secretions,
digestive issues, malnutrition. Males and females
Must inherit two copies of gene (1 from each parent)
Turner syndrome
XO chromosomal disorder, monosomy of X-affects females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually
sterile
Down syndrome
Chromosomal disorder, trisomy 21
Affects both sexes
Interphase
cell feeds, metabolizes and grows while replicating DNA in preparation for mitosis
Prophase
first appearance of chromosomes (will be 92)
Metaphase
Centrioles pull chromosomes to opposite sides of cell (chromatid) - 46 each side
Anaphase
Centromeres split and sister chromatids are pulled apart
Telophase
New nuclear membrane formed around each group of 46 chromosomes When it
goes right, euploid cells are produced
Nondisjunction
Error in meiosis in which homologous chromosomes fail to separate.
Polyploidy
condition in which an organism has extra sets of chromosomes
, Triploidy
when an organism has three copies of every chromosome instead of two
Tetrapoloidy
euploid has 92 chromosomes and fetus usually does not survive
Huntington's disease
Single gene disorder (trinucleotide repeat mutation)
Autosomal dominant (50% chance of passing it on)
Progressive neurologic disease with late onset (40s)
Prevention- genetic testing for pregnancy planning
Cystic fibrosis
Single gene disorder (CFTR gene mutation)
Autosomal recessive
Most common in white children
Defective transport of chloride ions cause salt imbalance- thickened secretions,
digestive issues, malnutrition. Males and females
Must inherit two copies of gene (1 from each parent)
Turner syndrome
XO chromosomal disorder, monosomy of X-affects females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually
sterile
Down syndrome
Chromosomal disorder, trisomy 21
Affects both sexes
