Mendel (1856-1863): experiments in monastery garden in Brno (Moravia).
Plant used: Pisum sativum (Garden Pea)
7 pairs of contrasting characters studied. Published results in 1866.
Rediscovered in 1900 by de Vries, Correns, and Tschermak.
Answer: Pisum sativum (Garden pea)
Gregor Mendel (1822-1884): Austrian monk, father of genetics. Experimented 1856-1863 at the Augustinian monastery of St. Thomas, Brno (then Brunn), Moravia (now Czech Republic). Plant: Pisum sativum (Garden pea). Reasons for choosing pea: Short generation time (1 year). Many offspring per cross. 7 distinct pairs of contrasting characters (easy to score). Natural self-pollination in closed flowers (cleistogamy) = easy to maintain true-breeding lines. Can be artificially cross-pollinated by emasculation + manual pollen transfer. Easy to grow in greenhouse. 34 varieties from seed suppliers available in Brno. Published: "Experiments on Plant Hybrids" (Versuche uber Pflanzenhybriden) in 1866, Proceedings of Brno Natural History Society. Largely ignored for 34 years.
Seed shape: round (R_) dominant over wrinkled (rr). Round = starch synthesis normal; wrinkled = rugosus gene mutation causes abnormal starch/sucrose. Seed colour: yellow (I_) dominant over green (ii). Endosperm pigmentation. Seed coat/flower colour: grey/brown with purple flowers (A_) dominant over white (aa). Pod shape: inflated/full (V_) dominant over constricted (vv). Pod colour: green (Gp_) dominant over yellow (gpgp). Flower position: axial/distributed along stem (Fa_) dominant over terminal/at top (fafa). Plant height: tall (Le_) dominant over dwarf (lele). Key: Mendel chose genes on different chromosomes (or far apart) - allows independent assortment. The 7 characters happen to correspond to 7 of the 14 pea chromosomes.
P: TT (tall) x tt (dwarf). F1: all Tt (tall) - dominance. F2 (self-F1): TT:Tt:tt = 1:2:1 (genotypic). T_:tt = 3:1 (phenotypic). Key observations: F1 all dominant. F2 shows both parental traits in 3:1 ratio. Recessive trait reappears in F2 (was not lost or blended). Mendel's explanation (Law of Segregation): factors (alleles) occur in pairs. The two factors separate during gamete formation. Each gamete receives one factor. This exactly matches chromosome behaviour in meiosis (Sutton-Boveri chromosome theory, 1902).
P: RRYY (round, yellow) x rryy (wrinkled, green). F1: all RrYy (round, yellow). F2: 9 R_Y_ : 3 R_yy : 3 rrY_ : 1 rryy = 9:3:3:1. Mendel's explanation: each pair of factors assorts independently of other pairs during gamete formation = Law of Independent Assortment (2nd Law). Requires: genes on different chromosomes (or very far apart on same chromosome). If linked: deviates from 9:3:3:1.
Mirabilis jalapa (4 o'clock flower): RR = red. Rr = pink. rr = white. F2: 1 red : 2 pink : 1 white (phenotypic = genotypic). No allele completely dominant. Mechanism: R allele produces enzyme for pigment. One copy (Rr) produces less enzyme than two copies (RR) = intermediate phenotype (pink, less pigment). Antirrhinum majus (snapdragon): similar. CW CW = white. CR CR = red. CR CW = pink. Also shows incomplete dominance. F2: 1:2:1. Codominance: both alleles expressed. ABO blood groups (IA, IB codominant over i). Sickle cell: HbA/HbS shows both normal and sickle haemoglobin.
Sutton (1902): chromosomes carry genes. Evidence: genes on chromosomes, chromosomes segregate in meiosis (mirrors allele segregation), chromosomes assort independently in meiosis I (mirrors independent assortment). Morgan (Nobel 1933): Drosophila melanogaster experiments. Confirmed chromosome theory. Discovered: sex-linked traits (white eye X-linked). Genetic linkage (genes on same chromosome). Crossing over explains separation of linked genes. Chromosomal maps: map unit = 1% recombination frequency = 1 centiMorgan (cM). Morgan's students mapped first chromosome map. Drosophila advantages: 4 chromosome pairs, giant salivary gland chromosomes (visible bands), short generation time, many offspring, cheap to maintain, known mutations available.
ABO blood groups: 3 alleles (I^A, I^B, i) at one locus (chromosome 9). I^A and I^B codominant. i is recessive. Genotype-phenotype: I^A I^A or I^A i = Group A (A antigen, anti-B antibody). I^B I^B or I^B i = Group B (B antigen, anti-A antibody). I^A I^B = Group AB (both antigens, no antibodies). ii = Group O (no antigens, both anti-A and anti-B antibodies). Blood transfusion: must match ABO and Rh factor. AB = universal recipient (no antibodies). O negative = universal donor (no antigens + Rh-). Forensic use: blood typing to identify suspects (historical; DNA fingerprinting now preferred). Inheritance problems: if both parents are Group A (I^A i), child can be Group O (ii probability = 1/4).
Numerical: Aneuploidy: monosomy (2n-1), trisomy (2n+1). Down syndrome: trisomy 21, 47 chromosomes. Risk increases with maternal age. Features: intellectual disability, epicanthal folds, single palmar crease, heart defects, increased leukemia risk. Turner syndrome: 45,X (45,XO). Female, short, webbed neck, infertile, streak gonads, no secondary sex characters. Klinefelter: 47,XXY. Male, infertile, gynecomastia, tall, learning difficulties. Edward: trisomy 18. Patau: trisomy 13. XYY: tall male, otherwise normal. XXX: superfemale. Non-disjunction: failure of chromosomes to separate during meiosis I or II. Polyploidy: triploid (3n), tetraploid (4n). Common in plants. Allopolyploidy: from different species. Wheat = hexaploid (6n). Banana = triploid (seedless). Colchicine inhibits spindle formation, causes polyploidy.