Human genetics.
1839- cell theory Schleiden & Schwann.
1859- particulate inheritance Mendel.
1877- chromosomes observed Flemming.
1900- blood groups discovered Landsteiner.
1903- chromosomes carry genes Sutton.
1908- inheritance of blood groups Ottenburg.
1910- 1st genetic clinic- USA Davenport.
1946- 1st genetic clinic- UK Roberts.
1949- sex chromatin Barr.
1953- DNA chromosomes in man Watson & Crick.
1960- 1st chr. abnormality in man Tjio/Levan.
prenatal sexing Riis & Frucks.
1961- x- inactivation.
genetic code Nienenberg.
1970- 1st gene synthesised in vitro Khorana.
1979- in vitro fertilisation Edward's & Steptoe.
1985- genetic fingerprinting Jeffrey's.
1993- 1st gene therapy Numerous authors.
Genetic defects.
1. mutations- changes in one or more bases in a chromosome. mutations may be -.
-dominant (gene is expressed is the next generation).
- recessive (several generations for expression).
2. aneuploidy- changes in the number of chr.s within a cell. normal diploid number is 46. haploid is 23. any deviation has serious consequences for the individual.
3. chromosomal aberrations.
- deletion- whole or part of a chromosome is missing.
- inversion- part of chromosomes broken out, flipped over and reinstated so that order of genes is incorrect.
- translocation- parts of non-homologous chr.s are exchanged.
all of these chromosomal abnormalities (aberrations) can affect any of the pairs of homologous non-sex determining .
chromosomes (called autosomes), or the sex chromosomes which are designated X and Y. females have two X chromosomes ("XX"), whereas males have one x and oneY ("XY").
the diploid chromosome number in man is 46- i.e. 44 autosomes plus pair is sex chr. (expressed as 44+XX in females and 44+XY in males). this is the number of chromosomes found i our somatic (body) cells.