ch. 13 modern inheritance Flashcards
what is amniocentesis?
diagnosing genetic disorders in offspring during pregnancy using amniotic cells
what is chorionic villi sampling?
diagnosing genetic disorders in offspring during pregnancy using placental cells
what causes the most common form of hemophilia?
an x-linked recessive allele (heterozygous females are asymptomatic carriers)
who introduced hemophilia into a number of different european royal families?
queen victoria of england
what can genetic counseling use to determine the probability of genetic disorders in offspring?
pedigree analysis
what does hemophilia affect?
clotting of the blood/ an enzyme in the clotting cascade
what is an aneuploid?
an individual with an error in their chromosome number (including section deletions and duplications)
what is an autosome?
any non-sex chromosome
what is the centimorgan?
relative distance that corresponds to a 0.01 recombination theory
what is the chromosomal theory of inheritance?
theory proposing that chromosomes are the genes’ vehicles and that their behavior during meiosis is the physical basis of the inheritance patterns that mendel observed
what is chromosome inversion?
detachment, 180 degree rotation, and chromosome art reinsertion
what is an euploid?
individual with the appropriate number of chromosomes for their species
what is homologous recombination?
process where homologous chromosomes undergo reciprocal physical exchanges at their arms, also crossing over
what is a karyogram?
a karyotype‘s photographic image
what is a karyotype?
an individuals chromosome number and appearance (including size, banding patters, and centromere position)
what is a monosomy?
an otherwise diploid genotype in which one chromosome is missing
what is nondisjunction?
failure of synapses homologs to completely separate and migrate to separate poles during the meiosis’ first cell division
what is nonparental (recombinant) type?
offspring resulting from homologous recombination that exhibits a different allele combination compared with its parents
what is paracentric inversion?
inversion that occurs outside the centromere
what are parental types?
offspring that exhibits the same allelic combination as it s parents
what is pericentric inversion?
inversion that involves the centromere
what is a polyploid individual?
individual with an incorrect number of chromosome sets
what is recombination frequency?
the average number of crossovers between two alleles (observed as the number of nonparental types in an offspring’s population)
what is translocation?
process by which one chromosome segment dissociates and reattaches to a different, nonhomologous chromsome
what is a trisomy genotype?
a genotype that is otherwise diploid except for where one entire chromosome duplicates
what is x inactivation?
condensing X chromosomes into Barr bodies during embryonic development in females to compensate for the double genetic dose
