{"id":1917,"date":"2020-10-29T11:15:54","date_gmt":"2020-10-29T11:15:54","guid":{"rendered":"http:\/\/onlineclassesguru.com\/?p=1917"},"modified":"2020-10-29T11:15:54","modified_gmt":"2020-10-29T11:15:54","slug":"human-genetics-2","status":"publish","type":"post","link":"https:\/\/onlineclassesguru.com\/index.php\/2020\/10\/29\/human-genetics-2\/","title":{"rendered":"Human Genetics"},"content":{"rendered":"<style type=\"text\/css\"><\/style><div>\n<p>Multifactorial Developmental Traits<\/p>\n<p>1<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Cells express phenotypes<\/p>\n<p>inherited traits, acquired traits, illnesses<\/p>\n<div>\n<p>X-linked Duchenne muscular dystrophy has cellular phenotype before whole-body symptoms appear\u2013 lack of dystrophin protein causes muscle cells to collapse when contracting.<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>2<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Tissue Types<\/p>\n<div>\n<p>differentiated cells<\/p>\n<p>290 types of somatic cells<\/p>\n<p>sperm or egg cells<\/p>\n<p>&nbsp;<\/p>\n<p>stem cells<\/p>\n<p>divide to differentiated cells<\/p>\n<p>replicate through self-renewal<\/p>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Generalized Animal Cell<\/p>\n<div>\n<p>number and type of organelles differ based on cell type\/function<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Specialized cells: secretion of milk<\/p>\n<p>secretion of milk is a phenotype of mammary gland lactating cells<\/p>\n<p>&nbsp;<\/p>\n<p>requires organelles important in secretion<\/p>\n<p>RER<\/p>\n<p>Golgi<\/p>\n<p>vesicular transport<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Deficiencies of organelles cause disease<\/p>\n<p>lysosomal storage disease: Tay-Sachs<\/p>\n<p>cells rely on number of lysosomes<\/p>\n<p>essential for normal brain function<\/p>\n<p>&nbsp;<\/p>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Inefficiencies of organelles cause disease<\/p>\n<p>mitochondrial myopathies<\/p>\n<p>inefficient cellular respiration leads to ROS<\/p>\n<p>ROS destroys enzymes, DNA<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<div>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Deficiencies of cell-to-cell communication<\/p>\n<p>plasma membrane surface molecules<\/p>\n<p>signal transduction<\/p>\n<p>receptors detect signals from outside the cell and transmit them inward<\/p>\n<p>small molecules, antigens, electrical impulses, mechanic changes, thermal changes, etc.<\/p>\n<p>&nbsp;<\/p>\n<p>cellular adhesion<\/p>\n<p>molecules help cells attach to other cells<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>8<\/p>\n<div>\n<div>\n<div>\n<p>epidermolysis bullosa is a defect in skin attachment<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Normal cell division and death<\/p>\n<p>growth, development, repair, healing<\/p>\n<p>balance of mitosis\/cytokinesis and apoptosis<\/p>\n<p>precise, genetically programmed sequence of events<\/p>\n<p>required for shaping limbs<\/p>\n<p>&nbsp;<\/p>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>The cell cycle is controlled molecularly<\/p>\n<p>molecular checkpoints in cell cycle<\/p>\n<p>internal and external factors affect mitotic clock<\/p>\n<p>&nbsp;<\/p>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Mitosis regulated by hormones, growth factors<\/p>\n<p>hormones are produced by glands<\/p>\n<p>transported in bloodstream to body<\/p>\n<p>binds specific receptor<\/p>\n<p>growth factors are produced by cells<\/p>\n<p>act locally, near site of production<\/p>\n<p>binds receptor type<\/p>\n<p>e.g., Epidermal Growth Factor (EGF) released by damaged cell, stimulates cell division in skin beneath scab<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<div>\n<p>Linear chromosomes protected by telomeres<\/p>\n<p>hundreds to thousands of 6-base repeats<\/p>\n<p>50-200 bases lost after each cell division<\/p>\n<p>after 50 divisions, shortened telomeres signal cell to stop dividing:<\/p>\n<p>most cells go through apoptosis<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>some cells produce telomerase to correct ends, avoid apoptosis<\/p>\n<p>sperm, eggs, bone marrow, and cancer cells<\/p>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Stem cells are immortal<\/p>\n<p>divides by mitosis<\/p>\n<p>stem cell<\/p>\n<p>progenitor cell<\/p>\n<p>does not renew<\/p>\n<p>differentiates<\/p>\n<p>&nbsp;<\/p>\n<p>active telomerase<\/p>\n<p>maintains chromosome ends<\/p>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Pathways to Cell Specialization<\/p>\n<div>\n<p>totipotent<\/p>\n<p>can give rise to every cell type<\/p>\n<p>pluripotent<\/p>\n<p>fewer possible fates<\/p>\n<p>multipotent<\/p>\n<p>few developmental choices<\/p>\n<p>unipotent<\/p>\n<p>one developmental choice<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Stem cells replace unhealthy cells<\/p>\n<p>human stem donor cells<\/p>\n<p>embryonic stem cells (pluripotent)<\/p>\n<p>using the inner cell mass (ICM) of an embryo<\/p>\n<p>differentiate into any cells of embryo (not trophoblast)<\/p>\n<p>&nbsp;<\/p>\n<p>induced pluripotent stem (iPS) cells (multipotent)<\/p>\n<p>reprogrammed somatic cells<\/p>\n<p>differentiate into any of several cell types<\/p>\n<p>&nbsp;<\/p>\n<p>adult stem cells (multi- or unipotent)<\/p>\n<p>tissue-specific or somatic stem cells<\/p>\n<p>differentiate into one or a few cell types<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Stem Cells in Health Care<\/p>\n<div>\n<p>to replace unhealthy cells<\/p>\n<p>&nbsp;<\/p>\n<p>self-donor<\/p>\n<p>matched donor<\/p>\n<div>\n<p>cardiomyocytes grown in a dish from iPS cells<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Human development is controlled<\/p>\n<p>stages of mammalian development<\/p>\n<p>zygote after fertilization<\/p>\n<p>fusion of egg and sperm<\/p>\n<p>&nbsp;<\/p>\n<p>cleavage<\/p>\n<p>first divisions to multi-cell blastocyst<\/p>\n<p>&nbsp;<\/p>\n<p>embryo for the first 8 weeks<\/p>\n<p>embryonic plate develops from inner cell mass<\/p>\n<p>&nbsp;<\/p>\n<p>fetus from the start of the ninth week until birth<\/p>\n<p>growth and maturation<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Fertilization<\/p>\n<p>formation of zygote<\/p>\n<p>sperm are activated and drawn to the oocyte<\/p>\n<p>sperm acrosomal enzymes aid sperm penetration<\/p>\n<p>chemical and electrical changes in the oocyte surface block entry of more sperm<\/p>\n<p>two genetic packages meet and merge<\/p>\n<p>&nbsp;<\/p>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Cleavage<\/p>\n<p>formation of blastocyst<\/p>\n<p>period of frequent mitotic divisions<\/p>\n<p>solid ball of 16+ cells (morula)<\/p>\n<p>hollowing of ball to blastocyst<\/p>\n<p>19<\/p>\n<div>\n<div>\n<p>blastocyst is trophoblast (outer layer) + inner cell mass<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>Imprinting errors cause disease<\/p>\n<p>deletion of chromosome 15 imprinted region<\/p>\n<p>Prader-Willi syndrome if deletion inherited from father (no active copy)<\/p>\n<p>Angelman syndrome if deletion inherited from mother (no active copy)<\/p>\n<p>&nbsp;<\/p>\n<div>\n<div>\n<div>\n<p>Prader-Willi s. phenotype of obesity, NIDDM, excessive hunger, moodiness and conduct disorder<\/p>\n<p>Angelman s. phenotype of failure to thrive, hyperactivity, muscle hypotonia, happy mood<\/p>\n<\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>20<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Importance of genomic imprinting<\/p>\n<p>regulate abundance of key proteins in embryo<\/p>\n<p>imprinted genes in clusters, controlled by imprinting centers<\/p>\n<p>one gene in cluster could be essential<\/p>\n<p>others imprinted in bystander effect<\/p>\n<p>&nbsp;<\/p>\n<p>uniparental disomy<\/p>\n<p>results in teratoma<\/p>\n<div>\n<div><\/div>\n<div>\n<p>Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display.<\/p>\n<div>\n<p>21<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Changes in gene expression in development<\/p>\n<p>over time, in different cell types<\/p>\n<p>programmed differentiation of stem cells<\/p>\n<p>&nbsp;<\/p>\n<p>cell, tissue, or organ\/gland level<\/p>\n<p>changes in sets of proteins available<\/p>\n<p>everything in a cell is due to a gene product<\/p>\n<p>&nbsp;<\/p>\n<p>inherited or acquired changes in gene expression: epigenetics<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<p><center><a href=\"http:\/\/onlineclassesguru.com\/orders\/ordernow\"><img decoding=\"async\" src=\"https:\/\/encrypted-tbn0.gstatic.com\/images?q=tbn:ANd9GcTyj99p60XCLyLk1htB7-1neRt8-2QdnenNlQ&usqp=CAU\"target=\"_http:\/\/onlineclassesguru.com\/orders\/ordernow\"\/><\/center><p>","protected":false},"excerpt":{"rendered":"<p>Multifactorial Developmental Traits 1 Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display. Cells express phenotypes inherited traits, acquired traits, illnesses X-linked Duchenne muscular dystrophy has cellular phenotype before whole-body symptoms appear\u2013 lack of dystrophin protein causes muscle cells to collapse when contracting. Copyright \u00a9 McGraw-Hill Education. Permission required for reproduction or display. 2&#8230;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1917","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v17.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Human Genetics - onlineclassesguru<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/onlineclassesguru.com\/index.php\/2020\/10\/29\/human-genetics-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Human Genetics - onlineclassesguru\" \/>\n<meta property=\"og:description\" content=\"Multifactorial Developmental Traits 1 Copyright \u00a9 McGraw-Hill Education. 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