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Molecular Biology and Genetics
MBG 1000
Georgevander Merwe

Definitions Mitosis = division of somatic cells Somatic cells = (non-sex cells) Apoptosis = form of cell death that is normal part of cell growth and development Necrosis = cell death due to disease or injury Cytokinesis = division of the cytoplasm and its contents Keryotype = size –order chromosome chart Heterochromatin = darkly staining, no active genes Euchromatin = contains active genes (proteins) Telomeres = chromosome tips Centromeres = where spindle fibres attach (constriction of the chromosome) Telocentric = centromere close to tip Acrocentric = centromere close to end Metacentric = centromere at midpoint Submetacentric = centromere displaced from center Q = long arm P = short arm Obtain tissue from person Fetal tissue - Amniocentesis = examines cells in fetal tissue by extracting amniotic fluid - Chronic villi sampling = cells of the chorion - Fetal cell sorting Adult tissue - Blood - Cheek swab - Skin cells - Tissue biopsy Normal karyotype - Human somatic cels contain 46 chromosomes - 23 diploid chromosomes - Paired 1-22 - 2 sex chromosomes - Diploid = two sets of each chromosome 2n - Haploid gametes – one set of each chromosome n Gamete = sex cell Zygote = prenatal human from the fertalized ovum stage until formation of embryo Ovary = female gonad Testis = male gonad Meiosis = cell division that halves the number of chromosomes to form haploid gametes Spermatogenesis = sperm cell differentiation Oogenesis = oocyte development Haploid = cell with one set of chromosomes Development = process of forming adult from single celled zygote Evolution = genetic change in population over time Blastocyst = hollow ball of cells descended from a fertalized ovum Gastrula = three layered embryo Dizygotic = twins that originated as two fertalized ovum (fraternal twins) Monozygotic = twins that originated as a single fertalized ovum (identical twins) Teratogen = substance that causes a birthd effect Results of meiosis - 4 haploid cells - Each cell is unique Pleiotropic = single gene disorder with several symptoms. Different sympotoms in different individuals Spontaneous abortion = spontaneous end of a pregnancy Still birth = baby dies in uterus Gastrulation - Primary germ layers form - Cells differentiate - Supporting structures form - 10 weeks = placenta fully formed Germ layers - Endoderm - Mesoderm - Ectoderm Euploid = somatic cell with normal number of chromosomes for the species Triploid = 3 homologous sets of chromosome Aneuploid = a cell with one or more extra or missing chromosomes Trisomy = presense of an extra chromosome Monosomy = missing a chromosome Duplication = an extra copy of a DNA sequence usually caused by misaligning pairings in meiosis Deletion = a missing sequence of DNA or part of a chromosome Translocation = exchange between non-homologous chromosomes Translocation carrier = individual with exchanged chromosomes but no signs or symptoms. Usual amount of genetic material but it is exchanged. Paracentric inversion = inverted chromosome that does not include the centromere Paricentric inversion = inverted chromosome but uncludes centromere Inversion carrier = X-inactivation = the inactivation of one x chromosome in each cell of a female mammal, occurs early in embryotic development Homozygous = having two identical allels of a gene Herterozygous = having two different alelles of a gene Hemizygous = the sex that has half as many x linked genes as the other (the human male) Phenotype = the expression of a gene in traits of sympotoms. SRY gene - Encodes for a transcription factor protein - Controls the expression of other genes - Stimulates male development - Hormones testoste
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