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Human Genetics


by contrast our sex or germ cells are one haploid that is they contain only half the number of chr. thus the egg cells are 22+X, whereas spermatozoa are either 22+X or 22+Y. hence when egg and sperm fuse at fertilisation the diploid number is restored.
             later on we shall see that germ cells have a special form of cell division called meiosis to bring about this reduction in the number of chromosomes. we shall also see that the Y chr. has a vital gene called the testis determining gene (or sometimes the sex determining gene).
             in the absence of this gene individuals are committed to being female., .
             only those with the TDY (SDG) can ever be made. thus there is a fight to be male with the female being the neutral sex.
             there is absolutely constant for the species.
             e.g.
             Ascaris (threadworm) has 2 or 4 chr.
             Drosophila (fruit fly) has 6 to 10.
             Felis (cat) has 38.
             Pan (chimpanzee) has 48.
             Macaca mulatta (rhesus monkey) 42.
             Homosapiens (man) has 46.
             but.-.
             Paramecium has 60-123.
             Cyprinus (carp)- has 100-104.
             in other words, the number of chr. is not related to the size of the animal.
             what is important is the number of genes which in man is at least 100,000.
             aneuploidy.
             we have just seen that in our species homosapiens, must have 46 chr. in each somatic cell (23 in germ cell- an egg or spermatozoon).
             but deviations from this ideal no do occur as a result of errors in the process of cell division. sometimes the homologous pairs of chr. stick together and cannot be separated. thus one sex cell gets two copies of a chr. while the other receives none. after fertilisation the embryo that is formed will have either 45 of 47 chr.
             so then one gamete can get a "double dose" of a chr. while its partner gets none. this, after fertilisation, results in trisomy and monosomy respectively for that particular chr. monosmy is normally lethal because the individual lacks one chr. and hence one complete set of genes, but the exception is the X-chr.


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