CH.

13 MEIOSIS

 Heredity due to DNA replication and gene expression

 Chromosome behavior during human life cycle
o Chromosomes duplicated
o Meiosis reduces each diploid cell into 4 haploid cells
o Fertilization combines maternal set and paternal set, restoring diploid
o Mitosis of zygote results in the rest of body cells
 Meiosis I - homologs separate
 Meiosis II - sister chromatids separate
 Random orientation of sister chromatids in metaphase of meiosis II if they are recombinant
 Random fertilization - 2n x 2n possible combinations of gametes
 Asexual reproduction - continued, same combination of alleles
 Genetic variation - independent assortment, crossing over, fertilization
 Mitosis vs meiosis - cross over, homolog separation

Definitions:

 Homologous chromosomes: same length, centromere position, and staining pattern

 Alteration of generation: diploid sporocyte produces haploid gametophyte, and vice versa
 Cross over: sections of DNA exchanged between non-sister chromatids at DNA break points; forms
visible chiasmata
 Independent assortment of chromosomes: random orientation of pairs of homologs at
metaphase of meiosis I (50/50 chance)
o Only applies to genes on non-homologs or far apart on same chromosome
o Alleles for one gene separated into gametes independently of alleles of any other gene
o 2n: number of possible combinations of gametes, where n is haploid number; underestimate
 Recombinant: offspring with new combo of phenotype

CH. 14 Mendel

 Tt x Tt - Dominant and recessive

o Phenotype - 3:1
o Genotype: 1:2:1
 Tt x Tt - Incomplete dominance
o Phenotype - 1:2:1
o Genotype - 1:2:1
 BW x WW - Codominance
o Phenotype - 1:2:1
o Genotype - 1:2:1
 TtUu x TtUu - Dominant and recessive
o Phenotype - 9:3:3:1
 Addition rule - "at least", "probability of heterozygote/homozygote"
 Multiplication rule - specific genotype (multiply probability of each character)
 2n: different possible genotypes of sperm or egg; only valid if both parents heterozygous
o N is # of heterozygous traits
 Extending Mendelian genetics for a single gene
o Incomplete dominance: offspring with phenotype in between two parents
 o Codominance: two alleles affect phenotype in separate but indistinguishable ways
o Multiple alleles: phenotype determined by more than 2 alleles (ABO)
o Pleiotropy: one gene results in wide range of phenotypes/symptoms (sickle cell, cystic
fibrosis)
 Extending Mendelian genetics for a more than 1 gene
o Epistasis: one gene affects/masks phenotype of another because the two gene products
interact (albinism)
o Polygenetic inheritance: 2 or more genes affect single phenotype; bell-curve; quantitative
characters (height)
 Recessive - absence/malfunction of protein
 Fetal testing
o Amniocentesis - invasive
o Chorionic villus sampling - invasive
o Isolation of fetal cells in mother blood - noninvasive
o Ultrasound imaging - noninvasive

Definitions

 Law of segregation: two alleles for a gene separate during anaphase I

 Testcross: reveals genotype of dominant phenotype by breeding it with a recessive homozygote
 Lethal dominant: rare, often causes death before reproduction and maturation
 Amniocentesis: finding defects in amniotic fluid and fetal cells
 Chorionic villus sampling: fetal portion of placenta removed
 Multifactorial traits: affected by environment and genes

CH. 15 Chromosomal Basis of Inheritance

 SRY gene (Y chromosome) - testes

 WNTH gene (autosome 1) - ovaries
 Barr body - not expressed so that male and female cells have one active copy of X-linked genes
during embryonic development - reactivated in eggs after meiosis
o XIST gene initiates it
 Recombination of unlinked genes - due to independent assortment
 Recombination of very far apart genes on same chromosome - crossing over
 Recombination of linked genes - due to crossing over
 50% recombinants - unlinked
 Gametes not each 25% or <50% recombinants - linked
 Polyploidy looks more normal; common in plants
 Chromosomal alteration
o Deletion
o Duplication
o Inversion: deleted fragments reattaches in reverse
o Translocation: deleted fragment joins nonhomolog
o Reciprocal translocation: nonhomologs exchange chromosomes
 Trisomy 21 - Down
 Monosomy X - Turner
 XXY - Klinefelter
 Aneuploidy of sex chromosome upsets balance less than aneuploidy of autosomes
  Methylation - silences/activates allele
 Genomic imprint - embryonic development
 Mitochondrial genes - mom
 Autosomal recessive - PKU, Cystic Fibrosis, Tay-Sachs, Sickle Cell
 Autosomal dominant - Huntington's

Definitions:

 Chromosomal theory of inheritance: chromosomes undergo segregation and independent

assortment
 X-inactivation: X-chromosome from either mom/dad becomes inactive Barr body during female
embryonic development so that male and female cells have 1 active copy of X-linked genes; all
mitotic descendants have same inactive X
 Genetic map: shows loci
 Linkage map: genetic map based on recombination frequencies
 Cytogenic maps: locate genes with respect to stained bands
 Nondisjunction: chromosomes don’t separate properly during Meiosis I or II
 Aneuploidy: abnormal chromosome # (syndromes)
o Monosomy: no copy of a chromosome (2n-1)
o Trisomy: extra copy of a chromosome (2n+1)
 Polyploidy: abnormal chromosome set
o Triploid: fertilization of diploid gamete
o Tetraploid: failure of 2n zygote to divide after interphase
 Genomic imprinting: variation of phenotype depending on whether allele is passed down from
mom or dad; results in silencing of one allele