{"id":1359,"date":"2020-08-06T22:28:31","date_gmt":"2020-08-06T22:28:31","guid":{"rendered":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/"},"modified":"2021-02-28T07:17:14","modified_gmt":"2021-02-28T06:17:14","slug":"theory-questions-and-answers-ii","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/","title":{"rendered":"Theory Questions and Answers II"},"content":{"rendered":"\n

Questions<\/h4>\n<\/span>\n\n\n

Scroll down for answers!<\/em><\/p>\n\n\n\n

  1. What is the pseudoautosomal region?<\/li>
  2. List three karyotypes that are characteristic of Down syndrome. <\/li>
  3. What is the Philadelphia Chromosome? <\/li>
  4. What trisomies are compatible with life? <\/li>
  5. Give the karyotype and 3 symptoms of Turner syndrome <\/li>
  6. Describe alternative splicing and its consequence. <\/li>
  7. Give the karyotype and 3 symptoms of Edwards syndrome. <\/li>
  8. What is the definition and location of promoters, enhancers, and silencers? <\/li>
  9. Explain the role of folic acid in pregnancy.<\/li><\/ol>\n\n\n\n
    \n\n\n<\/span>\n

    Answers<\/h4>\n<\/span>\n\n\n
    1. \u00a0They are the homologous sequence of nucleotides on the X and Y chromosomes(PAR1 and PAR2)<\/li>
    2. 46, XX,t(14;21),+21, 46, XX,t(21;22),+21 and 47, XY,+21<\/li>
    3. \u00a0This chromosome is formed due to reciprocal translocation of genetic material between chromosomes 9 and 22 and contains a fusion gene called BCR-ABL<\/em>. This fusion gene codes for a hybrid protein: a tyrosine kinase protein that is “always-on”, causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle. It is seen in the cells of CML (Chronic Myeloid Leukemia)<\/li>
    4. 13, 18, 21, 22, XXX, XXY, XYY<\/li>
    5. 45, X. Wide neck, webbed neck, short stature.<\/li>
    6. Alternative splicing means that the primary mRNA can undergo multiple splicing pathways thereby leading to the formation of multiple RNA that are different but related to each other. Each of these can form its own protein product. It is important because it helps the eukaryotic organism to produce much more proteins than the number of genes present<\/li>
    7. 47,XX +18 or 47, XY +18. Low set ears, cleft lip\/palate, growth deficiency<\/li>
    8. A promoter is a region of DNA that leads to the initiation of transcription of a particular gene. They are located near the transcription start sites of genes, upstream of the DNA, and can be about 100-1000 base pairs long. An enhancer is a short (50\u20131500 bp) region of DNA that can be bound by proteins known as activators, to increase the likelihood that transcription of a particular gene will occur. They are located up to 1,000,000 base pairs away from the gene and can be upstream or downstream from the start site. A silencer is a region of DNA that can be bound by proteins known as repressors, to decrease the likelihood that transcription of a particular gene will occur. They are located up to 1,000,000 base pairs away from the gene and can be upstream or downstream from the start site.<\/li>
    9. Folic acid is an important cofactor used in the synthesis of DNA. In embryonic development, it is necessary for the proper development of the neural tube. Deficiencies in folic acid in pregnancy can lead to neural tube defects such as spina bifida and anencephaly. <\/li><\/ol>\n<\/span>

      Questions<\/h4>

      Answers<\/h4><\/div>","protected":false},"excerpt":{"rendered":"

      Questions Scroll down for answers! What is the pseudoautosomal region? List three karyotypes that are characteristic of Down syndrome.  What is the Philadelphia Chromosome?  What trisomies are compatible with life?  Give the karyotype and 3 symptoms of Turner syndrome  Describe alternative splicing and its consequence.  Give the karyotype and 3 symptoms of Edwards syndrome.  What is the […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1357,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1359","page","type-page","status-publish","hentry"],"yoast_head":"\nTheory Questions and Answers II – Meddists<\/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:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/theory-questions-and-answers-ii\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/theory-questions-and-answers-ii\\\/\",\"name\":\"Theory Questions and Answers II – Meddists\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/#website\"},\"datePublished\":\"2020-08-06T22:28:31+00:00\",\"dateModified\":\"2021-02-28T06:17:14+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/theory-questions-and-answers-ii\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/theory-questions-and-answers-ii\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/theory-questions-and-answers-ii\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"http:\\\/\\\/meddists.com\\\/learn\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Pre-clinical\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Medical Genetics\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Theory Questions and Answers\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/theory-questions-and-answers\\\/\"},{\"@type\":\"ListItem\",\"position\":5,\"name\":\"Theory Questions and Answers II\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/#website\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/\",\"name\":\"Meddists\",\"description\":\"Let's Get Studying\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/meddists.com\\\/learn\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Theory Questions and Answers II – Meddists","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/","twitter_misc":{"Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/","url":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/","name":"Theory Questions and Answers II – Meddists","isPartOf":{"@id":"https:\/\/meddists.com\/learn\/#website"},"datePublished":"2020-08-06T22:28:31+00:00","dateModified":"2021-02-28T06:17:14+00:00","breadcrumb":{"@id":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/theory-questions-and-answers-ii\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"http:\/\/meddists.com\/learn\/"},{"@type":"ListItem","position":2,"name":"Pre-clinical","item":"https:\/\/meddists.com\/learn\/pre-clinical\/"},{"@type":"ListItem","position":3,"name":"Medical Genetics","item":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/"},{"@type":"ListItem","position":4,"name":"Theory Questions and Answers","item":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/theory-questions-and-answers\/"},{"@type":"ListItem","position":5,"name":"Theory Questions and Answers II"}]},{"@type":"WebSite","@id":"https:\/\/meddists.com\/learn\/#website","url":"https:\/\/meddists.com\/learn\/","name":"Meddists","description":"Let's Get Studying","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/meddists.com\/learn\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"}]}},"_links":{"self":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/1359","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/comments?post=1359"}],"version-history":[{"count":3,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/1359\/revisions"}],"predecessor-version":[{"id":4666,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/1359\/revisions\/4666"}],"up":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/1357"}],"wp:attachment":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/media?parent=1359"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}