Long DNA molecules are carried on structures called chromosomes in the nucleus inside each cell. Human chromosomes occur in pairs, one derived from the mother and one from the father in sexual reproduction. Humans have twenty-three pairs of chromosomes, of which twenty-two are similar in males and females. These are numbered 1 through 22, according to chromosome size (1 is the largest). One chromosome pair is different between females and males: XX in females (one X from each parent) and XY in males (X from the mother and Y from the father).
When ordinary cells divide (during fetal development, normal growth, and the regeneration of skin, other organs, and cells lining the lung, intestine, and uterus), the chromosomes must be duplicated and then be distributed to daughter cells so that every cell gets a full set of twenty-three pairs of chromosomes. When the chromosomes are duplicated, the DNA must be replicated, as well.
Egg-forming cells in the ovary and sperm-forming cells in the testes are unique. They are duplicated in a more complex pattern so that they contain only one each of the twenty-three pairs of chromosomes; when egg and sperm then combine, their aggregate of chromosomes is the expected twenty-three pairs.
Something else important can happen during duplication of chromosomes and replication of DNA. There may be recombination across the pairs of chromosomes between the DNA strands, so that genes (information) from the mother are combined at the molecular level with information from the father, and vice versa. Also, there may be mistakes. Mistakes in an individual gene occurring during replication, or when triggered by X-rays, ultraviolet radiation, or chemical reactions, are called "mutations." The complementary double-stranded structure of DNA is a defense against loss of information when DNA is damaged or broken; the damaged strand is repaired using the complementary strand to direct the repair. Mistakes that occur when chromosomes are duplicated can lead to translocations of part of one chromosome onto another, loss of a chromosome or part of a chromosome, or failure of separation of duplicated chromosomes (gaining a third copy of that chromosome, as in Down syndrome, where there are three copies of chromosome 21). In addition, some genes are actually carried outside the nucleus in the energy factories called mitochondria; these can be passed on only by the mother, in the egg cell, and are associated with certain diseases of muscle and brain.
GILBERT S. OMENN, The Gale Group Inc., Macmillan Reference USA, New York,