M1 L4: Pedigree Analysis

Cards (44)

  • Pedigree
    A family tree that describes the interrelationships of parents and children across generations
  • Pedigrees are used by professionals to analyze the pattern of inheritance of a particular trait throughout a family for medical purposes
  • Pedigrees can be used to make predictions about future offspring
  • Autosomal Traits
    46 autosome; 2 sex chromosomes
  • Standardized symbols used in pedigrees
    • CIRCLE: female
    • CROSSED OUT: deceased
    • SQUARE: male
    • SPLIT LINE  2 SHAPES: twins
    • SHADED SHAPE: affected with trait
    • SHAPE W/ BRACKETS O: adopted
    • HALF SHADED SHAPE: carrier of trait
    • TRIANGLE: miscarriage
  • Widow's peak is dominant. Dad can't pass sex-linked trait to son (XY), only to his daughter (XX). However, they have a son with a widow's peak, indicating it isn't an X-linked trait
  • A child's gender depends on the father's sperm (X or Y) since the egg cell always carries X
  • X sperm is slow but can survive longer, Y sperm is fast but dies faster
  • Can only determine homozygous or heterozygous alleles when individuals have children and express a dominant trait
  • Females who are homozygous and males who are hemizygous express the phenotype in X-linked recessive inheritance
  • An affected mother passes the trait to all offspring but only sons exhibit the phenotypes in X-linked recessive inheritance
  • An affected father passes the trait to all daughters but to none of his sons in X-linked recessive inheritance
  • Individuals with the dominant allele on the X chromosome exhibit the phenotype
  • An affected male passes the allele to all daughters but to none of his sons
  • An affected female passes the alleles to all offspring unless she is a heterozygote
  • Linked genes tend to be inherited together because they are located near each other on the same chromosome
  • Genes located on the same chromosome tend to be inherited together and are called linked genes
  • Non-parental phenotypes are produced in the test cross through genetic recombination
  • Identical twins result from one sperm and egg cell dividing during cell division
  • Conjoined twins were unable to fully divide during cell division
  • Fraternal twins result from 2 egg cells fertilized by different sperm cells
  • Large-scale chromosomal alterations in humans and other mammals often lead to spontaneous abortions
  • In nondisjunction, pairs of chromosomes do not separate properly during meiosis
  • Alterations of chromosome number or structure cause some genetic disorders
  • Nondisjunction
    Pairs of homologous chromosomes do not separate normally during meiosis
  • If nondisjunction happens during meiosis 1, it is more severe with: 2 gametes with extra, 2 gametes with missing chromosomes
  • As a result of nondisjunction, one gamete receives two of the same type of chromosome, and another gamete receives no copy
  • Aneuploidy results from the fertilization of gametes in which nondisjunction occurred
  • Offspring with aneuploidy have an abnormal number of a particular chromosome
  • A monosomic zygote has only one copy of a particular chromosome, often leading to miscarriages
  • A trisomic zygote has three copies of a particular chromosome, with a higher survival rate
  • Polyploidy is a condition in which an organism has more than two complete sets of chromosomes
  • Polyploidy is common in plants but not animals
  • Polyploids are more normal in appearance than aneuploids
  • Down syndrome (Trisomy 21) results from 3 copies of chromosome 21
  • Down syndrome affects about one out of every 830 children born in the United States
  • The frequency of Down syndrome increases with the age of the mother
  • Klinefelter syndrome results from an extra X chromosome in males, producing XXY individuals
  • Trisomy X or XXX females occur with a frequency of about one in 1,000 and are at risk for learning disabilities
  • Monosomy X, called Turner syndrome, produces X0 females who are sterile