{"id":1920,"date":"2020-10-29T11:17:16","date_gmt":"2020-10-29T11:17:16","guid":{"rendered":"http:\/\/onlineclassesguru.com\/?p=1920"},"modified":"2020-10-29T11:17:16","modified_gmt":"2020-10-29T11:17:16","slug":"human-genetics-3","status":"publish","type":"post","link":"https:\/\/onlineclassesguru.com\/index.php\/2020\/10\/29\/human-genetics-3\/","title":{"rendered":"Human genetics"},"content":{"rendered":"<style type=\"text\/css\"><\/style><p>Embryo Formation<\/p>\n<p>gastrulation in the second week<\/p>\n<p>three-layered flat structure develops from ICM<\/p>\n<p>primary germ layers form<\/p>\n<p>ectoderm<\/p>\n<p>mesoderm<\/p>\n<p>endoderm<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>cells in each layer begin to form specific organs controlled by homeotic gene expression<\/p>\n<p>1<\/p>\n<div><\/div>\n<div>\n<div>\n<p>Supportive structures from trophoblast<\/p>\n<p>support and protect the embryo<\/p>\n<p>earlier<\/p>\n<p>chorionic villi<\/p>\n<p>yolk sac<\/p>\n<p>allantois<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>later<\/p>\n<p>umbilical cord<\/p>\n<p>amniotic sac<\/p>\n<p>placenta<\/p>\n<p>2<\/p>\n<div>\n<div>\n<div><\/div>\n<div>\n<div>\n<p>The Primordial Embryo<\/p>\n<div>\n<p>germ layers develop into specific groups of structures<\/p>\n<p>ectoderm<\/p>\n<p>mesoderm<\/p>\n<p>endoderm<\/p>\n<\/div>\n<div>\n<div>\n<p>Mistakes result in multiple births<\/p>\n<p>dizygotic twins (fraternal)<\/p>\n<p>two sperm fertilize two oocytes<\/p>\n<p>same genetic relationship as any two siblings<\/p>\n<p>&nbsp;<\/p>\n<p>monozygotic twins (identical)<\/p>\n<p>both from a single fertilized ovum<\/p>\n<p>identical genetically as clones<\/p>\n<p>can be exposed to slightly different or same uterine environments<\/p>\n<p>&nbsp;<\/p>\n<p>conjoined twins (MZ or DZ)<\/p>\n<p>incomplete separation or fusion<\/p>\n<p>of twins in uterine environment<\/p>\n<div><\/div>\n<div>\n<div>\n<p>Types of identical twins<\/p>\n<div><\/div>\n<div>\n<div>\n<p>Embryonic development<\/p>\n<p>organogenesis<\/p>\n<p>simple germ layers develop into distinct organs<\/p>\n<p>&nbsp;<\/p>\n<div>\n<p>organogenesis is complete by eighth week of gestation<\/p>\n<\/div>\n<div>\n<div>\n<p>Embryonic development<\/p>\n<p>primitive streak develops into neural crest<\/p>\n<p>stem cells along the back of the embryo<\/p>\n<p>neural tube, notochord, heart, CNS, limbs, face, etc.<\/p>\n<p>&nbsp;<\/p>\n<div>\n<p>haploinsufficiencies of neural crest cells lead to defects<\/p>\n<div>\n<p>Treacher Collins syndrome is an autosomal dominant disorder of cranial neural crest cell development<\/p>\n<\/div>\n<div>\n<div>\n<p>Fetal growth after organogenesis<\/p>\n<p>growth and maturation of organs<\/p>\n<p>normal body proportions<\/p>\n<p>bone replaces softer cartilage<\/p>\n<p>nerve and muscle functions become coordinated<\/p>\n<p>sex organs become more distinct by week 6<\/p>\n<p>by week 12:<\/p>\n<p>sucks thumb<\/p>\n<p>kicks<\/p>\n<p>makes fists and faces<\/p>\n<p>beginnings of teeth<\/p>\n<p>&nbsp;<\/p>\n<p>fetal movement may be<\/p>\n<p>noticed by mother, monitored<\/p>\n<p>&nbsp;<\/p>\n<div><\/div>\n<div>\n<div>\n<p>Birth defects are possible<\/p>\n<p>development takes 40 weeks<\/p>\n<p>critical period of development in early weeks<\/p>\n<p>genetic abnormalities, toxic substances, viruses<\/p>\n<p>&nbsp;<\/p>\n<p>9<\/p>\n<div>\n<p>teratogens are environmental agents that cause birth defects<\/p>\n<\/div>\n<div>\n<div>\n<p>Teratogens can cause birth defects<\/p>\n<p>exposure to chemical or other agents<\/p>\n<p>may depend on mother\u2019s genotype<\/p>\n<p>known teratogens include<\/p>\n<p>thalidomide<\/p>\n<p>cigarettes and alcohol<\/p>\n<p>nutrients or vitamin deficiency<\/p>\n<p>occupational hazards<\/p>\n<p>viral infections<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>10<\/p>\n<div>\n<p>fetal alcohol syndrome<\/p>\n<div>\n<p>phocomelia due to thalidomide exposure<\/p>\n<div>\n<p>amniotic bands due to constriction of amnion<\/p>\n<div>\n<p>spina bifida due to low levels of folic acid<\/p>\n<\/div>\n<div>\n<div>\n<p>Parent-of-origin effects due to methylation<\/p>\n<p>parental origin influences phenotype<\/p>\n<p>age of onset or symptom severity<\/p>\n<p>&nbsp;<\/p>\n<p>mechanisms of parent-of-origin effects<\/p>\n<p>differential genomic imprinting<\/p>\n<p>can alter expression of gene<\/p>\n<div>\n<div><\/div>\n<div>\n<div>\n<p>Genomic Imprinting<\/p>\n<p>normal imprinting in genome<\/p>\n<p>methylated DNA imprints<\/p>\n<p>erased during meiosis<\/p>\n<p>remethylated according to type of gamete<\/p>\n<p>&nbsp;<\/p>\n<p>some genes normally methylated in females, some in males<\/p>\n<div><\/div>\n<div>\n<div>\n<p>Imprinting errors cause disease<\/p>\n<p>imprinted region of chromosome 15<\/p>\n<p>gene PWS methylated in eggs<\/p>\n<p>gene AS (UBE3A) inactive in sperm<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<div>\n<p>expression of a few genes surrounding PWS-IC<\/p>\n<p>expression of large region at PWS-IC<\/p>\n<\/div>\n<div>\n<div>\n<p>13<\/p>\n<p>&nbsp;<\/p>\n<\/div>\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<div>\n<p>14<\/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<div>\n<p>15<\/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<p>16<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Changes in gene expression in development<\/p>\n<p>epigenetic changes<\/p>\n<p>chromatin-based gene activation\/silencing<\/p>\n<p>changes to chemical groups associated with DNA<\/p>\n<p>promote or restrict access of transcription machinery<\/p>\n<p>changes replicated during synthesis phase<\/p>\n<p>transmitted to daughter cells after cell division<\/p>\n<div>\n<p>nucleosomes pick up chemical modifications that enhance or resist condensation<\/p>\n<\/div>\n<div>\n<div>\n<p>17<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Changes in gene expression in development<\/p>\n<p>hemoglobin switching in development<\/p>\n<p>adult hemoglobin is a tetramer of<\/p>\n<p>2 alpha chains (chm 11) and 2 beta chains (chm 16)<\/p>\n<p>&nbsp;<\/p>\n<div>\n<p>adult hemoglobin has a high cooperative affinity for oxygen<\/p>\n<div>\n<p>fetal hemoglobin has an even higher cooperative affinity for oxygen<\/p>\n<\/div>\n<div>\n<div>\n<p>18<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Developmental hemoglobin chain switching<\/p>\n<div>\n<p>gene switching responds to oxygen levels<\/p>\n<p>embryonic &#8211; 2 epsilon (e) + 2 zeta (z)<\/p>\n<p>fetal &#8211; 2 gamma (g) + 2 alpha (a)<\/p>\n<p>adult &#8211; 2 beta (b) + 2 alpha (a)<\/p>\n<p>about 99% of hemoglobin molecules by four years of age<\/p>\n<\/div>\n<div>\n<div>\n<p>19<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Changing gene expression in environment<\/p>\n<p>teratogen exposure<\/p>\n<p>e.g., folic acid supplementation<\/p>\n<p>donates methyl groups for DNA methylation<\/p>\n<div>\n<p>Does excessive folic acid lead to overmethylation of genes?<\/p>\n<div><\/div>\n<div>\n<div>\n<p>20<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<p>Our Proteomes Change Over Time<\/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<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>Embryo Formation gastrulation in the second week three-layered flat structure develops from ICM primary germ layers form ectoderm mesoderm endoderm &nbsp; &nbsp; &nbsp; &nbsp; cells in each layer begin to form specific organs controlled by homeotic gene expression 1 Supportive structures from trophoblast support and protect the embryo earlier chorionic villi yolk sac allantois &nbsp;&#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-1920","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast 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