Basic Principles of Genetics

Terms 1. Genes the unit that codes for various expressions of inherited genetic information 2. Loci/Locus location of genes along the chromosomes 3. Allele alternate form of a gene 4. Phenotype detectable traits 5. Genotype the actual genes inherited from each parent 6. Homozygous identical alleles ex. KK, kk 7. Heterozygous different alleles ex. Kk Major Role of Genetics in Blood Banking 1. Cellular Genetics - Mitosis and Meiosis 2. Population Genetics - Mendels Law of Inheritance Law of Independent Segregation Law of Independent Assortment - Inheritance Patterns Autosomal Dominant Autosomal Recessive X linked Recessive X linked Dominant I. Cell Division Mitosis a process whereby cell divides into 2 IDENTICAL cells. - The pair of chromosomes of the parent cell must separate and then replicate. The 23 pairs become 46 pairs. Meiosis produces 4 daughter cells (gametes) having half the number of chromosomes present in the parent cell.

2. Law of Independent Segregation - The two coexisting alleles of an individual for each trait segregate (separate) during gamete formation so that each gamete gets only one of the two alleles. Alleles again unite at random fertilization of gametes.
Genotype Phenotype AA, AO BB, BO AB OO

II. Mendels Law of Inheritance - is a scientific theory how hereditary characteristics are passed from parent organism to their offspring 1. Law of Dominance - When an organism has two different alleles for a trait, one allele dominates. Homozygous (GG) Heterozygous (Gg) G: Dominant gene g: Recessive gene

3. Law of Independent Assortment - Single allele pairs separate independently during gamete formation; genes for different traits are inherited independently from each other.

c) On the average, the trait is transmitted by an affected person to half of his or her children. d) Unaffected family members dont transmit the trait to their children. 2. Autosomal Recessive expressed only in homozygotes who have received the gene from both parents. Criteria for Autosomal Recessive Inheritance: a) The trait characteristically appears only in siblings, not in parents. b) On the average, 25% of the siblings are affected. c) The parents of the affected child may be consanguineous. d) Males and females are equally affected. B. X-Linked Inheritance dominant and recessive traits may be determined by the genes on the X chromosomes. o Males are said to be HEMIZYGOUS for the X chromosome o HEMIZYGOUS describes the genetic material of the X chromosome of the male for which there is no equivalent on the Y chromosome Criteria for X-Linked Dominant Inheritance: a) Affected males transmit the trait to all their daughters and none for their sons. b) Affected heterozygous females transmit the trait to half of her children of either sex. c) Affected homozygous females transmit the trait to all of her children. d) In rare X-linked dominant disorders, females are often affected but are usually heterozygous and have a variable, less severe expression. Criteria for X-Linked Recessive Inheritance: a) The incidence of the trait is much higher in males than females. b) The trait is transmitted from an affected male through all his daughters and half of his sons. c) The trait is never transmitted directly from father to son. d) The trait is transmitted from a carrier female to half of her daughters (carriers) and half of her sons (affected).

III. Incomplete Dominance - is used to refer situations in which both alleles are expressed but the effect of one allele appears greater that of the other. Ex. Blue + Yellow = Green - both alleles contribute to the phenotype Ex. Sickle Cell Anemia IV. Co-dominance Inherited traits are expressed whether the allele is present in the homozygous or heterozygous form. Both the phenotypes will be expressed because they are co-dominant. Co-dominant genetic traits are detectable and neither overshadows the expression of the other. Ex. Blood group genes (Kidd blood group system) The genetic factors that govern human blood types are co-dominant alleles.

V. Inheritance Patterns A. Autosomal traits that are not carried on the sex chromosomes 1. Autosomal Dominant the expression of gene is found whenever it is inherited and occurs equally in males and females. Criteria for Autosomal Dominant Inheritance: a) The trait appears every generation. b) The trait occurs with equal frequency in males and females.