CYTO 13 & 14

Cards (139)

  • GENETIC COUNSELORS - help people examine their families' histories
  • PEDIGREE - one of the key steps in genetic counseling
  • PROBAND - person whom the tree is initiated
  • AFFECTED - person diagnosed with or having symptoms of a given disorder
  • HETEROZYGOTE - person possesing one disease causing allele
  • CARRIER - unaffected heterozygote in recessive disorders
  • HOMOZYGOTE - person possesing 2 copies of disease causing alle
  • COMPOUND HETEROZYGOTE - person possesing 2 different disease- causing allele
  • MODE OF INHERITANCE - way in which human genetic disorders are passed down to later generations
  • AUTOSOMAL INHERITANCE - genes located on autosomes
  • DOMINANT TRAIT/ DISORDER - only one allele known to cause the trait
  • AUTOSOMAL DOMINAT - when a gene is carried on an autosome
  • EXAMPLES OF AUTOSOMAL DOMINANT DISORDERS: Achondroplasia, Huntington Disease & Marfan Syndrome
  • ACHONDROPLASIA - form of dwarfism
  • HUNTINGTON DISEASE - progressive & fatal disease affecting the brain & nervous system
  • MARFAN SYNDROME - disorder affecting the skeletal system, heart & eyes
  • The normal pattern of autosomal dominant inheritance has three exceptions
  • THE THREE EXCEPTIONS TO NORMAL PATTERN OF AUTOSOMAL DOMINANT INHERITANCE ARE: New mutations, Incomplete penetrance & Variable expressivity
  • PENETRANCE - percentage of individuals having a particular genotype
  • EXPRESSION - degree to which an individual with a certain genotype exhibits the phenotypic effects of that genotype
  • NEW MUTATIONS - occur in the egg & sperm of an individual, appears for the first time in single generation
  • RECESSIVE TRAITS/DISORDER - both alleles of the associated gene need to have the necessary changes order to show related phenotype
  • AUTOSOMAL RECESSIVE DISORDERS- caused by mutations in genes
  • Both parents are heterozygous carriers - there is 25% chance of both parents passing o na disease - causing allele
  • One parent is carrier & another is affected - each child has 50% of being a carrier
  • One parent is carrier & another is affected - there is 50% chance og having an affected child
  • One parent is affected & other is unaffected - there is 50% will be heterozygous carriers
  • CONSANGUIENEOUS - meaning "same blood"
  • SEX - LINKED GENES - actually located on the sex chromosomes themselves
  • HEMOPHILIA is a x - linked while hairy ears are y - linked
  • X - LINKED TRAITS & DISORDERS - result of sequence variants in genes
  • X - linked recessive disorders express the traits fully in males
  • X - INACTIVATION - most of the genes on one female's two X chromosome are turned off
  • X - LINKED DOMINANT TRAITS show up more often in females
  • HEMIZYGOUS - having only one copy of the chromosome
  • Y - CHROMOSOME - is passed strictly from father to son
  • SEX - LIMITED TRAITSS - inherited in the normal autosomal fashion but are not expressed in one sex
  • SEX - INFLUENCED TRAIT - are coded by genes on autosomes
  • DIAGNOSTIC TESTING - performed in an affected individual in order to establish a specific diagnosis
  • PRENATAL TESTING- performed during pregnancy in order to diagnose the baby with a genetic condition