1. Chapter 11
Mendel & The Gene Idea

2. Mendelian genetics Character Trait True-bred Hybridization
heritable feature, i.e., fur color
Trait
variant for a character, i.e., brown
True-bred
all offspring of same variety
Hybridization
crossing of 2 different true-breds
P generation
parents
F1 generation
first filial generation
F2 generation
second filial generation

3. The Law of Dominance
In a cross of parents that are pure for contrasting traits, only one form of the trait will appear in the next generation.
Offspring that are hybrid for a trait will have only the dominant trait in the phenotype.
When an organism has two different alleles for a trait, the allele that is expressed, overshadowing the expression of the other allele, is said to be dominant. The gene whose expression is overshadowed is said to be recessive.
Mendel’s Law of Dominance

4. Leading to the Law of Segregation
Alternative versions of genes (alleles) account for variations in inherited characteristics
For each character, an organism inherits 2 alleles, one from each parent
If the two alleles differ, then one, the dominant allele, is fully expressed in the organism’s appearance; the other, the recessive allele, has no noticeable effect on the organism’s appearance
The alleles for each character segregate (separate) during gamete production (meiosis).
Mendel’s Law of Segregation

5. The Law of Independent Assortment
Law of Segregation involves 1 character. What about 2 (or more) characters?
Monohybrid cross vs. dihybrid cross
The two pairs of alleles segregate independently of each other.
Mendel’s Law of Independent Assortment

6. Genetic vocabulary…….
Punnett square: predicts the results of a genetic cross between individuals of known genotype
Homozygous: pair of identical alleles for a character
Heterozygous: two different alleles for a gene
Phenotype: an organism’s traits
Genotype: an organism’s genetic makeup
Testcross: breeding of a recessive homozygote X dominate phenotype (but unknown genotype)

7. Alternative Inheritance Patterns
Incomplete dominance: appearance between the phenotypes of the 2 parents. Ex: snapdragons
Codominance: two alleles affect the phenotype in separate, distinguishable ways. Ex: Tay-Sachs disease
Multiple alleles: more than 2 possible alleles for a gene. Ex: human blood types

8. Alternative Inheritance Patterns
Pleiotropy: genes with multiple phenotypic effect. Ex: sickle-cell anemia
Epistasis: a gene at one locus (chromosomal location) affects the phenotypic expression of a gene at a second locus. Ex: mice coat color
Polygenic Inheritance: an additive effect of two or more genes on a single phenotypic character Ex: human skin pigmentation and height

9. Human disorders The family pedigree Recessive disorders:
Cystic fibrosis
Tay-Sachs
Sickle-cell
Dominant disorders:
Huntington’s
Testing:
Amniocentesis
chorionic villus sampling (CVS)

10. Chapter 12
The Chromosomal Basis of Inheritance

11. Chromosomal Theory of Inheritance
Genes have specific loci on chromosomes and chromosomes undergo segregation and independent assortment

12. Chromosomal Linkage Morgan Drosophilia melanogaster
XX (female) vs. XY (male)
Sex-linkage: genes located on a sex chromosome
Linked genes: genes located on the same chromosome that tend to be inherited together

13. Genetic Recombination
Crossing over
Genes that DO NOT assort independently of each other
Genetic maps
The further apart 2 genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency
Linkage maps
Genetic map based on recombination frequencies

14. Human Sex-Linkage
SRY gene: gene on Y chromosome that triggers the development of testes
Fathers= pass X-linked alleles to all daughters only (but not to sons)
Mothers= pass X-linked alleles to both sons & daughters
Sex-Linked Disorders: Color-blindness; Duchenne muscular dystropy (MD); hemophilia
X-inactivation: 2nd X chromosome in females condenses into a Barr body (e.g., tortoiseshell gene gene in cats)

15. Chromosomal Errors Nondisjunction: Aneuploidy:
members of a pair of homologous chromosomes do not separate properly during meiosis I or sister chromatids fail to separate during meiosis II
Aneuploidy:
chromosome number is abnormal
Monosomy – missing chromosome
Trisomy - extra chromosome
(ex. Trisomy 21 Down Syndrome)
Polyploidy - extra sets of chromosomes

16. Chromosomal Errors Alterations of chromosomal structure:
Deletion: removal of a chromosomal segment
Duplication: repeats a chromosomal segment
Inversion: segment reversal in a chromosome
Translocation: movement of a chromosomal segment to another

17. Genomic Imprinting A parental effect on gene expression
Identical alleles may have different effects on offspring, depending on whether they arrive in the zygote via the ovum or via the sperm.
Fragile X syndrome: higher prevalence of disorder and mental disability in males