Genetics Flashcards
Genotype
A person’s unique genetic composition
Phenotype
Observable traits (anatomic, physiologic, biochemical, behavioral) as a result of genes
Congenital disorders
Birth defects
Gestation, during birth process, or at the genetic level
(Gestation) FAS
(Birthing process) anoxia —> cerebral palsy
(Genetics) Huntington’s disease
Nucleotides
Precursors to DNA and RNA
Nitrogen base, five-carbon sugar (Ribose or Deoxyribose) and a phosphate group
Also used in metabolic pathways
Protein synthesis, energy metabolism, signal transduction, regulation of enzyme activity.
Ex: ATP GTP CTP UTP (Metabolism)
Cell signaling cGMP and cAMP
Regulating enzyme activity coenzyme A, FAD, NAD, NADP+
Polyploidy
State of having 1 or more extra sets of chromosomes
Too many pairs are incompatible with life and result in spontaneous abortion
Aneuploidy
Alteration in the chromosomal number
Single missing or extra chromosomes—> failure to divide properly
45 or 47 chromosomes
Monosomy Aneuploid
Missing one chromosome in a pair
Ex: turner’s syndrome XO 45 chromosomes, sex-linked
Trisomy Aneuploid
More than 2 chromosomes in a pair
Ex: Down syndrome autosomal trisomy three chromosomes on the 21st pair
Sex-linked trisomy is Klinefelter’s syndrome XXXY
Deletion
Chromosomes are broken and DNA is lost
Ex: Cri du chat
“Cry of the Cat” developmental delay, low birth wt, mental delay, heart defects, and missing kidney’s
Inversion
Two breaks of the chromosomes followed by reinsertion of the missing fragment with different information.
Ex:
OG: ABCDEFG
NEW: ABCEDFG
No physical problems —> offspring might have genetic issues (deletion or duplication)
Translocation
Exchange of genetic material between non-homologous chromosomes, unusual rearranging of chromosomes.
No problems —> offspring genetic issues
Homozygous
RR or rr
Alleles of the genotype are the same
Heterozygous
Rr
Alleles of the genotype are different
Duplication
Repeated coding of the chromosome segments
ABCABCDEF
Reciprocal translocation
Two breaks in a chromosome and they switch places
Ex:
Before:
ABCDE
GHIJK
After:
ABIJK
GHCDE