Meiosis and chromosomal anomalies Most eukaryotic organissms, including humans, reproduces sexually, sexual reproduction requires two

parents, and usually always results in two events: meiosis and fertilization. Fertilization is the way in which different genetic contributions of the two parents come together to form the new genetic identity. Meiosis is a special kind of nuclear division that may have evolved from mitosis, and uses much of the same cellular organization. Haploid and diploid

Every organism has a number of chromosomes characteristic of their species; in these organisms the sex cells or gametes have exactly half the number of chromosomes that is characteristic of somatic cells of the organism. The number of chromosomes present in the gametes is called the haploid number (single kit) The number of cells is called somatic diploid (double set) Cells with more than two chromosome pairs are called polyploid (many kits) The diploid cell produced by the fusion of two gametes is called a zygote. In any diploid cell, for each chromosome there is an equivalent one. These pairs are called homologous chromosomes. The two homologues are similar, usually by form, size and type of hereditary information. Meiosis in the kit diploid of chromosomes, which contains the two counterparts of each pair, is reduced to the haploid kit, which contains only one homologue of each pair. Meiosis balance the effects of fertilization that would be raised to double the number of chromosomes in each generation. Meiosis and life cycle Meiosis takes place at different times of the life cycle of different organisms. In ferns has a typical alternation of a haploid phase with a diploid. The common visible form of a fern is the sporophyte, the diploid organism. For meiosis the sporophytes of ferns produce spores (haploid) They produce small plantlets (gametophytes) Small gametophytes produce haploid gametes by mitosis The gametes fuse and then give rise to a new diploid sporophyte Such a process in which a phase of organisms following a haploid organisms diploid and haploid then again, it is said alternation of generations. Differences between meiosis and mitosis Mitosis can occur in both haploid cells both in the diploid, meiosis occurs only in cells instead of diploid or polyploid. During meiosis each diploid nucleus divides twice, producing four nuclei, but the chromosomes are duplicated only once before the nuclear division.

In this way, each of the four cores product contains half the number of chromosomes present in the original core. The haploid nuclei produced by meiosis contain new combinations of chromosomes. Fases of meiosis Meiosis consists of two successive nuclear divisions: meiosis I and meiosis II. Meiosis I consists of: Prophase I: 1. chromatin condenses and chromosomes become visible. 2. homologous chromosomes pair up (along the chromatids) synapses. Since pairing involving 4 chromatids, the set of homologous chromosomes is called tetrad. 3. occurs at this point the process called crossing over, it is determined by the exchange of segments of a chromosome with the corresponding segments of its counterpart (are broken chromatids of a homologous and are exchanged with the corresponding portions of the chromatids of the second homologous). 4. During the prophase homologues begin to move away from each other except at the points of crossing over, areas of intersection (chiasmata), homologues remain in close association to the end of prophase. 5. The nucleolus and nuclear envelope disappear. Metaphase I: 1. The pairs of homologues are aligned on the equatorial plane of the cell 2. The region of the centromere is duplicated 3. spindle fibers begin to attach to kinetochores. Anaphase I: 1. homologues, each consisting of 2 sister chromatids, are separated, but the two chromatids do not separate as instead occurs in mitosis. Telophase I: 1. homologues have migrated to opposite poles 2. each group contains half the number of chromosomes of the original core 3. these chromosomes may be different from each other in the cell of origin because of trade that occurred during crossing over 4. depending on the species may be formed, or not, and nuclear envelopes may occur, or less, cytokinesis 5. in some animal cells also divide the centrioles 6. meiosis does not stop there as each chromosome is still composed of two chromatids Meiosis II consists of: Prophase II: 1. the nuclear envelope is disintrega 2. begin to reappear new spindle fibers

 Metaphase II: 1. the pairs of chromatids of each core are aligned on the equatorial plane 2. spindle fibers are associated with kinetochores again 3. other spindle fibers branch out to the poles Anaphase II: 1. sister chromatids are separated 2. each chromatid (chromosome) migrates to one of the two poles Telophase II 1. spindle microtubules disappear 2. around each group of chromosomes form a nuclear envelope 3. nuclei now contain the haploid number of chromosomes 4. is formed the cell wall that separates the cytoplasm 5. haploid cells begin to differentiate Meiosis in human species Meiosis occurs in reproductive organs: the testes in males and ovaries in the female. In the male: A cell called the primary spermatocyte undergoes two meiotic divisions to produce 4 haploid spermatids Each of the spermatids then differentiate into sperm In the female: The meiotic divisions produce haploid nuclei The cytoplasm during cytokinesis is distributed unevenly in both meiosis I and meiosis II in An the ovum is produced together with two or three polar corpuscles The polar corpuscles, containing other nuclei produced by meiosis, usually degenerate As a result of the unequal division of the the ovum is to be well stocked with cytoplasmic structures (ribosomes, mitochondria, enzymes, and reserve materials) important for the growth of the embryo. The human karyotype In humans the number of chromosomes is 46, 44 are autosomes (chromosomes identical in male and female) 2 are sex chromosomes (XX in females and XY in males) A graphical representation of the chromosomes present in the nucleus of a single cell is called somatic karyotype from which we can determine: Number, size and shape of chromosomes The chromosomes of similar size counterparts

Chromosomal abnormalities Some genetic defects are caused by abnormalities in the number or structure of chromosomes so severe as to be relevant in the karyotype. Usually due to errors during meiosis / mitosis, homologous chromosomes or chromatids can not separate them (not - disjunction) This phenomenon, in meiosis, produces gametes with one or more chromosomes in excess and other gametes with one or more chromosomes in the defect. A gamete chromosomes in default, unless the sex chromosome is missing, can not produce a viable embryo. Very rarely a cell with chromosomes in excess can produce a viable embryo Individuals with autosomal supernumerary occur: Premature Death Delays mental Infertility Abnormalities in heart and other organs Other anomalies are visible in the karyotype: Deletion: loss of a fragment of a chromosome Translocation: the lost fragment of a chromosome is transferred to another Down syndrome It is one of the best known conditions produced by an abnormality in the autosomes. Down syndrome occurs when: An individual inherits three pairs of chromosome 21 instead of two. In 95% of cases the cause is the non-disjunction during gamete formation of a parent. It follows a trim of 47 chromosomes with a chromosome 21 supernumerary May also be caused by translocation of chromosomes of one parent Third chromosome 21 attached to a larger chromosome (14) The individual has 46 chromosomes but reflects the functional characteristics produced by a third chromosome 21 Usually you have a parent with 45 chromosomes but chromosome is phenotypically normale.Un but consists largely of chromosome 14 e21 united together. The possible combinations of chromosomal children are: 3 to 6 are lethal 1 in the other 3 down syndrome 1 will be normal 1 will be a carrier of the translocation 14/21 can have more children infected with down syndrome can have half of the children but normal healthy carriers of the translocation Features of Down syndrome: Set of anomalous effects occurring simultaneously

 The low block, Thick neck, Mental retardation (more or less severe); large tongue language difficulties, Increased susceptibility to infections, Abnormalities in heart and other organs Abnormalities in sex chromosomes The non-disjunction can also produce individuals with an abnormal number of sex chromosomes A twenty-third pair in the XY combination produces male characteristics XXY Klinefelter's syndrome XXXY and XXXXY males sexually developed and sterile XXX females sometimes normal XXX and XO (only one X chromosome) Turner syndrome causes infertility Deletions of chromosomes Chromosomal deletions can result in birth defects or diseases Deletion of the "arm" of chromosome 11 has short Wilms' tumor (kidney cancer) Associated with this there is a particular deletion condition called aniridia (congenital absence of the iris of the eye) It can be cured with early cancer, before symptoms are highlighted. Parental Diagnosis A diagnostic procedure, amniocentesis, the fetus can make the diagnosis of Down syndrome and a number of other genetic abnormalities. A thin needle is inserted in the maternal abdominal wall and in the membranes contain the fetus is sucked and a sample of amniotic fluid that surrounds the fetus. The amniotic fluid contains fetal cells flaking and such cells, cultured in vitro, producing cells in mitosis by the karyotype which can be derived. Antonino Martino, "3" group.