studium 0.18.7

data/lib/studium/exam_topics/genetische_krankheiten

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+# =========================================================================== #
+# === Genetische Krankheiten
+#
+# Alles über genetische Krankheiten wird hier gesammelt. Auch Fakten die
+# dazu Bezug nehmen.
+#
+# Auch "Pathophysiology for Biotechnologists".
+#
+# Genetic diseases tag, genetic disease tag. Gendisease tag.
+# =========================================================================== #
+
+- Analysing early-onset Parkinson’s disease revealed that the genes disrupted in these affected individuals, are required for ... ? for <one>certain mitochondrial functions</one>.
+- A mutation in the OTOF gene (otoferlin gene) may cause which problem in humans? Affected humans may be deaf.
+- In a rare genetic disorder, the absence of a particular enzyme leads to increased testosterone production. When the fetus has this disorder, the mother develops ... ? a <one>male-like pattern of body hair</one> <two>during the pregnancy</two>.
+- Is there a very strong genetic component for schizophrenia? Yes. Family studies have revealed that there is, indeed, a very strong genetic component for schizophrenia.
+- How can we define a negative disease model? In a negative disease model, the agent that causes disease in humans does not cause disease in the animal.
+- Nenne eine <one>Ionenkanalerkrankung</one> die mit dem Buchstaben <two>B</two> beginnt. A: <one>Burgada</one>.
+- <one>Marfan syndrome</one> typically arises due to a loss-of-function mutation in which gene? In the <one>fibrillin-1 (FBN1) gene</one>.
+- Give an example in humans of a disorder caused by haploinsufficiency. A: The <one>Marfan syndrome</one>.
+- The most famous hereditary photosensitive disease in men is ... ? <one>Xeroderma pigmentosum</one> (XP).
+- The <one>Werner Syndrome</one> is <two>a genetic disease that mimics ... </two>? <one>premature aging</one>.
+- <one>Which disease</one> is also known as <two>adult progeria</two>? The <one>Werner's syndrome</one>.
+- Warum sind Menschen mit einer <one>defekten Glucose-6-phosphat-Dehydrogenase</one> besser vor einer Malariainfektionen geschützt? Da Plasmodien für ihren Stoffwechsel dringend ein reduzierendes Milieu benötigen.
+- In most human groups, <one>albinism</one> <two>is rare</two>. The ratio is 1 : ... ? 1: 20_000 individuals.
+- Human growth hormone is used for the treatment of ... ? <one>pituitary dwarfism</one>.
+- Ashkenazi Jews are more likely than other people to suffer from which genetic disease? From the <one>Tay-Sachs disease</one>.
+- Do X-linked recessive traits show up more frequently in human males than in human females? <one>Yes</one>.
+- The most famous disease resulting from a defect in blood-clotting proteins is called ... ? <one>hemophila</one>.
+- Die erste bekannte monogene Krankheit, die zumindest zum Teil durch einen Funktionsverlust von RNA-Genen verursacht wird, war ... ? das <one>Prader-Willi-Syndrom</one>.
+- The problem in <one>Down's syndrome</one> is not mutation, but ... ? <one>gene dosage</one>.
+- Just about the most famous example for a dominant mutation that wreaks their havoc only later in life is ... ? The <one>Huntington's disease</one>.
+- Name a protein that can hardly be degraded in a human cell, which is also associated with a disease. A: Beta-amyloid fits this description; it is associated with the Alzheimer's disease.
+- The <one>SLC12A3 gene</one> may cause the <two>Gitelman syndrome</two> if it is affected by a loss-of-function mutation. What does this gene normally encode for? An <one>ion transporter</one>.
+- <one>Bei welchem genetischen Phänomen</one> treten sehr häufig genetische Störungen auf? Bei der <one>Inzucht</one>.
+- Nenne ein Beispiel für ein <one>dominant lethales</one> <two>Allel</two> <three>beim Menschen</three>. A: Die <one>Huntington-Krankheit</one>.
+- <one>Humans</one> may have <two>XXXX</two> chromosomes, <three>Tetrasomy X</three>. <four>When was this first described</four>? In <one>1961</one>.
+- Nenne eine Krankheit, bei der <one>ein angeborener Defekt in der Kollagenbiosynthese</one> vorliegt. A: Die <one>Osteogenesis imperfecta</one> - die <two>Glasknochenkrankheit</two>.
+- Bei der <one>spinalen Muskelatrophie</one> ist oft <two>ein Gendefekt</two> im Gen <three>SMN1</three> entscheidend. Wofür steht SMN hier? <one>Survival of motor neuron</one>.
+- The <one>genetic disease</one> commonly known as <two>the butterfly skin</two>, is also called more appropriately ... ? <one>Epidermolysis Bullosa</one>.
+- <one>Wann</one> wurde die <two>Leber's Congenital Amaurosis</two> erstmals beschrieben (+- 5 Jahre sind ok)? A: <one>1869</one>.
+- The correct genetic nomenclature for the <one>Philadelphia chromosome</one> is ... ? <one>t(9;22)(q34;q11)</one>.
+- The effects of GSD II (glycogen storage disease II) can be reduced by giving the patients recombinant ... ? <one>myozyme</one>.
+- The disease abbreviated as <one>GSD II</one> may be ... ? <one>Glycogen storage disease II</one>.
+- <one>In Europa</one> ist welche Erbkrankheit am weitesten verbreitet? Die <one>Mukoviszidose</one>. Jeder Zwanzisgte trägt ein defektes Gen; etwa eines von 2000 Neugeborenen leidet darunter.
+- In <one>sickle cell disease</one>: <two>the faulty protein is ... </two>? <one>Hemoglobin S</one>. URL: https://en.wikipedia.org/wiki/Sickle_cell_disease
+- <one>Loss of MeCP2</one> causes ... ? The neurological disorder called <two>Rett Syndrome</two>.
+- Sind die heterozygoten Träger der Mukoviszidose-Krankheit von der Krankheit betroffen? Nein - sie besitzen ein funktionsfähiges Gen, das für einen funktionsfähigen Chloridkanal kodiert.
+- <one>Dysregulated genetic imprinting</one> has been associated with disorders. Name two such disorders in humans. A: (1) Angelman syndrome (2) Prader-Willi syndrome
+- Mutationen in dem Gen für CSB führen beim Menschen zum ... ? <one>Cockayne-Syndrom</one>. URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538557/
+- Many form of <one>albinism</one>, such as those the Hopis in North America were affected from, originated from a mutation in ... which gene on chromosome 15? The <one>OCA2 gene</one>:
+- Normally albinism affects 1 in ... humans/individuals? <one>1 in 20.000</one>. 
+- Is <one>albinism</one> <two>inherited as an autosomal recessive trait</two>? <one>Yes</one>.
+- Das <one>Retinoblastomgen</one> ist <two>auf welchem Chromosom zu finden</two>? Auf <one>Chromosom 13</one>.
+- Was ist die <one>Achondroplasie</one> und wie entsteht sie? Eine <one>Achondroplasie</one> ist eine Mutation, welche das Wachstum des Skelettsystems betrifft, und zu einer <two>verfrühten Verknöcherung</two> führt. Ursache für diese Krankeht ist eine Punktmutation im Gen FGFR-3 (fibroblast growth factor receptor 3).
+- The disease called <one>Diamond-Blackfan anemia</one> is caused by a mutation in which gene? The <one>RPS19 gene</one>.
+- <one>Every childbearing couple</one> faces an approximately <two>n percent risk of having a child with a genetic anomaly</two>? About <one>3%</one> (at the least in the USA).
+- Give an example for a <one>amino acid disorder</one> in humans. A: <one>Phenylketonuria</one> (<two>PKU</two>). URL: https://en.wikipedia.org/wiki/Phenylketonuria
+- Beim Menschen: gib eine andere Bezeichnung jeweils für <one>Trisomie 13</one>, <one>Trisomie 18</one> und <one>Trisomie 21</one>. A: (1) <one>Trisomie 21</one>: <two>Down-Syndrom</two> (2) <one>Trisomie 18</one>: <two>Edwards-Syndrom</two> (3) <one>Trisomie 13</one>: <two>Pätau-Syndrom</two>
+- The genetic name for <one>dwarfism</one> is ... ? <one>Pseudoachondroplasia</one>.
+- For the disease <one>phenylketonuria</one> (PKU), can the genotype <two>P</two>/<two>p</two> be the cause for it? No, because PKU is a recessive disease, so the genotype must be <one>p</one>/<one>p</one>.
+- <one>When</one> was the human disease <two>cystic fibrosis</two> discovered? <one>1938</one>.
+- Are there known effective strategies for reducing the risk of Alzheimer's disease? No.
+- Is phenylketonuria (PKU) a recessive disease? Yes.
+- In the <one>Rett syndrome</one>, the <two>MECP2-gene</two> is the major functional cause of this syndrome. Of what type is the product of the MECP2-gene? It is a <one>transcriptional repressor</one>.
+- Give an example for a genetic disease that shows an age-dependent penetrance effect. A: The <one>Huntington disease</one>.
+- Give an example for a genetic disease that is ultimately caused by a <one>nondisjunction</one>. A: The <one>Down syndrome</one>.
+- Mutations responsible for <one>Tay-Sachs</one> are remarkably common among ... ? <one>Ashkenazi Jews</one>, with as many as one out of thirty carrying one disease-causing mutation.
+- When the <one>ApoE gene</one> is mutated, which disease may be more likely to occur? <one>Alzheimer's disease</one>.
+- Name a gene in the human genome, beginning with the letter 'S', that when mutated may cause <one>epileptic encephalopathy</one>. A: The <one>SCN1A gene</one>.
+- In 2021, of the almost 20.000 human genes, how many are known to be able to cause <one>autosomal recessive diseases</one>, roughly? Roughly about <one>2150</one> of these genes.
+- The gene for the <one>Huntington's disease</one> was localized how ... ? Via <one>linkage mapping</one>.
+- Bei der <one>PKU</one> liegt was erhöht vor? <one>Phenylalanin</one> (zumindest <two>im Blut</two>).
+- The <one>most common mutation</one> that causes cystic fibrosis is ... ? <one>deltaF508</one>.
+- Ein Defekt im Presinilin-2-Gen führt zu welcher Krankheit? <one>Alzheimer</one>. URL: https://de.wikipedia.org/wiki/Alzheimer-Krankheit
+- <two>When</two> was it discovered that the <one>fragile X syndrome</one> was due to <three>expanded trinucleotide repeats</three>? In <one>1991</one>. URL: https://en.wikipedia.org/wiki/Fragile_X_syndrome
+- Name <one>four single-gene disorders in humans</one>. A: (1) cystic fibrosis (2) sickle cell anemia (3) Huntingtons disease (4) hereditary hemochromatosis
+- <one>Achromatopsie</one> ist die <two>totale Farbenblindheit</two>. Wieviele Personen sind hierbei, in Deutschland, betroffen? Etwa 3000 Personen. URL: https://de.wikipedia.org/wiki/Farbenblindheit
+- <one>X0 monosomy</one> patients may show <two>gonadal dysfunction</two>. Give another term for the latter. A: <one>Sterility</one>. URL: https://en.wikipedia.org/wiki/Turner_syndrome
+- <one>On which human chromosome</one> can we find the <two>Huntingtin Gene</two>? On the <one>short arm of chromosome 4</one>. URL: https://en.wikipedia.org/wiki/Huntingtin#Gene
+- A <one>point mutation in collagen</one> can <two>lead to which disease</two>? <one>Osteogenesis imperfecta</one>. URL: URL: https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
+- Bei der <one>Sichelzellanämie</one>, im Hb(S) Allel: wieso ergibt sich ein Unterschied auf molekularer Ebene? Weil eine polare Aminosäure gegen eine unpolare Aminosäure umgetauscht wird.
+- Does <one>Pentasomy X</one> (<two>XXXXX</two>) exist in humans? Yes. URL: https://en.wikipedia.org/wiki/Pentasomy_X
+- Name a human, genetic disease able to <one>cause blindness</one>. A: <one>Leber's congenital amaurosis</one>. URL: https://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis
+- Bei der <one>cystischen Fibrose</one> ist oft das CFTR-Protein defekt. Wieviele Aminosäuren hat dieses Protein? <one>1480</one>.
+- Nenne eine Möglichkeit die Krankheit <one>PKU</one> zu diagnostizieren. A: Mit Hilfe des <one>Guthrie-Tests</one>, bei dem das Bakterium <two>Bacillus subtilis</two> eingesetzt wird.
+- <one>Duchenne-Muskeldystrophie</one>: weches Gen ist defekt? Das <one>Dystrophingen</one>. URL: https://en.wikipedia.org/wiki/Dystrophin
+- Wie lange dauert es bis man nach Auftreten der <one>Huntington Symptome</one> verstirbt? <one>15-20 Jahre</one>.
+- <one>Xeroderma pigmentosum</one> (XP) is a genetic disorder. Is it a recessive or dominant disease? <one>Xeroderma pigmentosum</one> is <two>a recessive disease</two>. https://en.wikipedia.org/wiki/Xeroderma_pigmentosum
+- Give another name for <one>alkaptonuria</one>. A: <one>Black urine disease</one>. URL: https://en.wikipedia.org/wiki/Alkaptonuria
+- Males are quite often affected by <one>hemophilia</one>. <two>Two factors</two> are usually modified, <three>factor 9</three> or "factor 8". Which one is more commonly mutated? <one>Factor 9 deficiency</one> is more common than <one>Factor 8 deficiency</one> (<three>9 > 8</three>).
+- <one>Normal red blood cells</one> last about 4 months (120 days) in the bloodstream. <two>Fragile sickle cells</two> break down after ...? After about <one>10-20 days</one>, which causes <two>anemia</two>.
+- Das <one>Waardenburg-Syndrom</one> führt zu interessanten Entwicklungsstörungen, wie zum Beispiel … ? Verschiedenfarbige Augen, eine weiße Locke und Schwerhörigkeit. Die Ursache ist ein verändertes Pax-3-Gen.
+- Does the <one>Systemic lupus erythematosus</one> show a gender-specific pattern? Yes. It affects about 90% females, and only 10% males.
+- The most famous person suffering from the <one>Proteus Syndrome</one>, was probably ... ? The <one>Elephant Man</one>, aka <two>Joseph Merrick</two>.
+- Taking the population as a whole, single-gene disorders affect n% of the population sometime during an entire life span? <one>2%</one>.
+- <one>Cystic fibrosis</one> is commonly caused by ... ? A deletion of <one>Phenylalanin-508</one> (<two>delta F508</two>).
+- <one>Single-gene defects</one> are caused by individual ... ? <one>mutant genes</one>.
+- Beim menschlichen <one>malignen Gliom</one> (Glioblastoma) wird oft welcher Wachstumsfaktor überproduziert? <one>IGF</one>: <two>insulin-like growth factor</two>. URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559821/
+- Wie nennen wir die Krankheit "Mukoviszidose" in der deutschen Sprache? <one>Zäher Schleim</one>.
+- Genetische Ursache für die <one>Progeria</one> Krankheit? "Frame shift mutation" in Lamin A und Lamin C.
+- The <one>Li-Fraumeni syndrome</one> arises through a mutation in which gene? "TP53" (the one that codes for p53).
+- In people diagnosed with <one>sickle cell disease</one>, at least one of the beta-globin subunits in hemoglobin is replaced with another hemoglobin variant. How do we call this hemoglobin variant? <one>Hemoglobin S</one>.
+- Wie hoch ist die <one>Inzidenz bei SCID</one>? A: <one>1 : 1_000_000</one>.
+- Wofür steht die Abkürzung <one>BRCA-1 gene</one>? Breast cancer 1, early onset gene. URL: https://www.wikigenes.org/e/gene/e/672.html
+- Take the following statement: <one>"Any hereditary disease in which cellular metabolism is abnormal results from an inherited defect in an enzyme."</one>. Which person coined this statement? <one>Archibald Garrod</one>. URL: https://en.wikipedia.org/wiki/Archibald_Garrod
+- The <one>age of onset</one> in the Huntington diseas, correlates with ... ? The <one>repeat length</one>.
+- Give a fancy name for <one>xeroderma pigmentosum</one>. A: The <one>Vampire Disease</one>.
+- Provide another term for <one>Achromatopsia</one>. A: <one>Total colour blindness</one>.
+- Beim <one>Rett-Syndrom</one> ist das Gen <two>MeCP2</two> (<two>Methyl-CpG-Binding Protein 2</two>) betroffen. Wo genau liegt dieses Gen? Es liegt in der chromosomalen Region <one>Xq28</one>.
+- Wie nennen wir die genetische Krankheit <one>44XXX</one> mit trivialer Bezeichnung? <one>Superfemale</one>.
+- What are the typical symptoms of <one>X-SCID</one>? The symptoms include <one>life threatening infections</one>, already in newborns.
+- <one>Ein Mangel an B12</one> führt zu welcher Krankheit? <one>Perniziöser Anämie</one>.
+- Warum verstarb der berühmte <one>bubble boy</one> David bei einer Transplantation? Die Spenderin, seine Schwester, trug den <one>Epstein-Barr-Virus</one> in sich.
+- Welches Problem haben <one>Phenylketonurie-Personen</one>? Sie können die Aminosäure Phenylalanin nicht abbauen. Dadurch reichert sich diese Aminosäure im Körper an.
+- Ursache des <one>Xeroderma Pigmentosum</one> Defekts? Die <one>Nucleotide Excision Repair</one> (<one>NER</one>) ist fehlerhaft.
+- <one>Dyslipoproteinämie</one> können auch vererbt werden. Was meinen wir mit einer <one>Dyslipoproteinämie</one> eigentlich? Dies bezeichnet ein gestörtes Verhältnis der Lipoproteinfraktionen im Blutserum, insbesonders ein Missverhältnis von <one>HDL</one> zu "LDL".
+- Nenne <one>eine genetische Krankheit</one> bei der wir die <two>Bildung eines schädlichen Produkts durch Substratentzug</two> verhindern mögen. A: Die <one>Phenylketonurie</one>, <two>PKU</two>.
+- Name <one>a human disease</one> where we may encounter <two>hypogonadism and sterility</two>. A: The <one>Klinefelter syndrome</one>.
+- Welches disease ist <one>XLA</one>? <one>X-linked Agammaglobulinemia</one>.
+- Are <one>lysosomal storage disorders</one> <two>multisystem</two>? Yes - they <one>typically affect several organs</one>.
+- In the disease <one>Diamond-Blackfan anemia</one>, which gene is mutated? The ribosomal protein gene called <one>RPS19</one>.
+- Eine (<one>genetische</one>) Störung der Chromosomenzahl erfolgt, zum Beispiel, durch ...? <one>Non-Disjunction</one>. URL: https://de.wikipedia.org/wiki/Non-Disjunction
+- Name an <one>early method</one> that could be used to identify <two>disease genes</two>? <one>Positional cloning</one>.
+- Can we treat <one>XLA</one> (<two>X-linked agammaglobulinemia</two>)? Yes, via gammaglobulins, in particular IgG.
+- What is <one>the main cause of morbidity and mortality</one> in individuals with <two>cystic fibrosis</two>? <one>Lung disease</one>.
+- <one>MeCP2</one> kann im Komplex-Verbund was? Histone deacetylieren (also Acetylgruppen von Histonen entfernen). Dies <one>silenced</one> ein Gen (schaltet es also aus). 
+- <one>Mit welcher Krankheit</one> ist <two>MECP2</two> assoziiert? Mit dem <one>Rett syndrome</one>. (Merkschema: <one>MacRett</one>) URL: https://de.wikipedia.org/wiki/Rett-Syndrom
+- How many <one>single-gene disorders</one> are known in <two>humans</two>? <one>6.000</one>.
+- In general: what kind of <one>mutation</one> can cause <two>anticipation</two>? <one>Dynamic mutations</one>.
+- <one>Welche Krankheit</one> haben <two>Alkaptonuria Patienten</two> häufig? <one>Arthritis</one>.
+- Was sind <one>orphan diseases</one>? Das ist der Fall wenn wir nur wenige PatientInnen haben bei seltenen Erkrankungen.
+- What do we mean with the term <one>genetic load</one>? Virtually all members of a diploid species carry a number of deleterious recessive mutations.
+- Name a typical therapy for <one>X-SCID</one>. A: Via <one>stem cell transplantation</one>.
+- <one>In welchem Gen</one> liegt die <two>Ursache für die Sichelzellanämie</two> begründet? Dies ist eine Punktmutation im <one>Beta-Globingen</one>.
+- Name a common cause for the <one>Swyer-Syndrom</one>. A: A point mutation or a deletion in the <one>SRY gene</one>.
+- Name a <one>X-chromosomal recessive disease</one>. A: <one>Haemophilia</one> - only male carriers are affected by this disease. URL: https://en.wikipedia.org/wiki/Haemophilia
+- What do we mean with the <one>Swyer-Syndrom</one>? These are <one>XY females</one>. URL: https://de.wikipedia.org/wiki/Swyer-Syndrom
+- <one>Mukoviszidose</one> entsteht aus einem Defekt im <two>CFTR-Gen</two>. Auf welchem Chromosom finden wir dieses Gen? Auf dem <one>Chromosom 7</one>.
+- The <one>first disease interpretable at the molecular level</one> was ... ? <one>Sickle-cell anaemia</one>. URL: https://en.wikipedia.org/wiki/Sickle_cell_disease
+- The <one>Werner syndrome helicase</one> (WRN helicase) is associated with some sort of genetic disease / aging-related effects. We could use a <one>slightly longer</one> but better name for this helicase. Which one would that be? <one>Werner syndrome ATP-dependent helicase</one>. URL: https://en.wikipedia.org/wiki/Werner_syndrome_helicase
+- When was the <one>Leber's Congenital Amaurosis</one> first described? In <one>1869</one>.
+- In <one>SCID</one>, in humans: are more male or female people affected? <one>More males</one> are affected by SCID.
+- Give two examples for <one>autosomal recessive diseases</one> caused by defects in Nucleotide excision repair. A: (1) <one>Cockayne Syndrome</one> (2) <one>Xeroderma Pigmentosum</one>
+- Das <one>CFTR-Gen</one>, das bei der cystischen Fibrose involviert ist (und mutiert vorliegt), findet sich auf welchem Chrosomon im menschlichen Genom? Auf <one>Chromosom 7</one>.
+- Wenn das <cadetblue>ATM-Gen</cadetblue> mutiert ist, haben betroffene Menschen welches Problem? Ein <one>gehäuftes Auftreten von Tumoren</one>.
+- Nenne eine genetische Ursache für eine <one>chronische Granulomatose</one>. A: Ein <one>Defekt</one> im <two>NADPH-Oxidase-System</two>.
+- Name a genetic disease in which a <one>missense mutation</one> is the genetic culprit. A: The <one>sickle cell disease</one>. URL: https://en.wikipedia.org/wiki/Sickle_cell_disease
+- The strongest genetic risk factor for <one>rheumatoid arthritis</one> is which gene (or rather, variants in that gene)? The <one>HLA-DRB1 gene</one>.
+- In der Biochemie: was bedeuten die Buchstaben beim <one>LHON</one> disease? <one>Leber's Hereditary Optic Neuropathy</one>. URL: https://en.wikipedia.org/wiki/Leber%27s_hereditary_optic_neuropathy
+- Patients with the <one>Diamond-Blackfan anemia</one> (DBA) disease, often have a mutation in which gene? They often have a mutation in the ribosomal protein gene called <one>RPS19</one>.
+- What happens if a <one>chromosome breakage</one> occurs within a gene? The result will be the <one>functional disruption of that gene</one>.
+- Nenne eine Krankheit, die aufgrund einer defekten <one>Nucleotide Excision repair</one> im Menschen entsteht. A: <one>Xeroderma Pigmentosum</one>; die <two>Mondscheinkinder</two>. URL: https://en.wikipedia.org/wiki/Xeroderma_pigmentosum
+- Give another term for "Hypertrichosis". A: <one>Werewolf Syndrome</one>.
+- <one>Wann</one> wurde das Rett-Syndrom erstmals beschrieben? <one>1966</one>.
+- Name <one>three examples</one> for <two>conventional primary immunodeficiencies</two> (PID). A: (1) SCN:  Severe congenital neutropenia (2) XLA:  lack of B cells (3) <one>SCID</one>: <two>lack of T cells</two>
+- <one>How many</one> different <two>lysosomal storage diseases</two> have been described up until 2019, give or take? More than <one>40</one>.
+- Das <one>sickle hemoglobin</one> unterscheidet sich von <two>normalen Hemoglobin</two> inwiefern? An <one>Position 6</one> der <two>Hämoglobin Beta-Untereinheit</two> ist E gegen V ausgetauscht. (Mnemonic: "SicklE-V"; Delta 6, E -> V, Glutaminsäure wird zu Valin) URL: https://en.wikipedia.org/wiki/Sickle-cell_disease
+- Das <one>Rett-Syndrom</one> betrifft <two>Mädchen</two>. <three>Welches Gen liegt mutiert vor</three>? Das <one>MeCP2-Gen</one>.
+- Angenommen ein Mensch hat <one>Chorea Huntington</one>. Ist es etwas besser wenn dies vom <two>Vater</two> oder von der <two>Mutter</two> stammt? Von der <one>Mutter</one>, da die Krankheit dann etwas weniger schlimm verläuft.
+- Is the <one>Huntington's disease</one> transmitted in an <two>autosomal recessive</two> or in a "dominant" manner? The Huntingon disease is <one>transmitted dominantly</one>.
+- The <one>Huntington disease</one> occurs at <two>which frequency</two>? About <one>1 patient per 100.000 individuals</one>.
+- If the <one>Factor VIII gene</one> is defect, what disease may result from this? <one>Hemophilia A</one>.
+- Was passiert wenn ein Mensch einen genetischen Defekt in <one>MyD88</one> hat? Dann kommt es zum Beispiel zu einer vermehrten Infektion mit <one>Streptococcus pneumoniae</one>.
+- Is the <one>Cockayne syndrome</one>, a rare inherited disorder, associated with cancer? No.
+- Is <one>polydactyly</one> dominant? Yes.
+- <one>PKU Inzidenz</one> beim Menschen? <one>1 : 10_000</one>.
+- Bei der <one>PKU</one> (<one>Phenylketonurie</one>) ist welches Enzym defekt? Die <one>Phenylalaninhydroxylase</one>.
+- What will be the effect of <one>high levels of deoxyadenosine</one> in the human body? This will kill B and T cells of the immune system. Thus, the body will be open to infection by bacteria and viruses.
+- What may be the <one>world's most common genetic diseases</one>? <one>Hemoglobinopathies</one>.
+- The <one>BCR-ABL fusion gene</one> produces too much of which protein? <one>Tyrosine kinase</one>.
+- Is <one>achondroplasia</one> <two>a dominant mutation</two>? Yes. URL: https://en.wikipedia.org/wiki/Achondroplasia
+- What does the abbreviation <one>MSMD</one> stand for? <one>Mendelian susceptibility to mycobacterial disease</one>.
+- The <one>P23T mutation</one> in <two>human γD-crystallin</two> shows a markedly decreased solubility and leads to ... ? <one>Childhood onset of cataracts</one>.
+- Patients affected by the <one>PKU disease</one> (the <one>Phenylketonuria disease</one>) typically have a mutation in the PAH gene that tends to be ... where? The mutations tend to typically be affecting the initiation codon <one>AUG</one>, which means that these patients fail to produce any <two>PAH polypeptide</two>.
+- In gene therapy we can treat <one>X-SCID patients</one> through <three>stem cell transplantation</three>, but this may have potential side effects. Name one such side effect. A: A <one>virus infection</one>, e.g. through "EBV".
+- If the <one>PSEN1 gene</one> is mutated, what disease may follow? <one>Early onset Alzheimer</one>.
+- In the <one>sickle cell disease</one>, the amino acid E is changed into a V. But within that particular codon, which nucleotide position is changed? The <one>second one</one>; <two>position two</two> within that codon.
+- In <one>sickle cell disease</one>, for homozygous carriers, how can we label the alleles? HbS + HbS.
+- Give another name for the <one>Gilbert's syndrome</one>. A: <one>Hyperbilirubinemia</one>. URL: https://en.wikipedia.org/wiki/Gilbert's_syndrome
+- Nenne eine molekularbiologische Ursache der Diagnose <one>Situs Inversus</one> beim Menschen. A: Ein <one>Ciliendefekt</one> ist dafür verantwortlich das die inneren Organe schliesslich in der jeweils anderen Körperhälfte liegen.
+- <one>Spinal muscular atrophy</one> is linked to a genetic mutation in which gene? In the <one>SMN1 gene</one>.
+- Nenne drei Merkmale des <one>Angelman-Syndroms</one>. A: (1) <one>geistige Behinderung</one> (2) Krampfanfälle (3) Störungen des Spracherwerbs
+- When the <one>Dyskerin gene</one> is mutated, which genetic disease may be the consequence? <one>X-linked dyskeratosis congenita</one>. URL: https://en.wikipedia.org/wiki/Dyskerin
+- Give another name for the <one>progerin</one> protein. A: <one>Prelamin A protein</one>.
+- Wenn der <one>Harnstoffzyklus blockiert</one> ist, nach Synthese des "Argininosuccinat", entsteht <three>welche Krankheit</three>? <one>Hyperammonämie</one>. URL: https://de.wikipedia.org/wiki/Hyperammon%C3%A4mie
+- The <one>Werner's syndrome</one> has been described by <violet>Otto Werner</violet>, in the year ... ? <one>1904</one>. URL: https://en.wikipedia.org/wiki/Werner_syndrome#Background_and_history
+- What is the cause of the <one>Bowen-Conrad syndrome</one>? <one>Defective ribosome biosynthesis</one>.
+- What is the cause of <one>Xeroderma pigmentosum</one>? A defect in one of the proteins that "help correct damaged DNA".
+- The disease <one>Azoospermia</one> refers to ... ? The <one>absence of sperm in semen</one>.
+- Name two ways how we can <one>treat SCID</one> effectively, past the year 2017. A: (1) Hematopoietic stem cell transplantation (HSCT) (2) gene therapy
+- <one>Mutations in the dystrophin gene</one> can cause ... ? <one>Duchenne muscular dystrophy</one>.
+- Das Gen <one>HYLS1</one> geht beim Menschen mit welchem Syndrom einher? Mit dem <one>Hydroletalus-Syndrom</one>.
+- Give an example, how we can show, that genetics of the host is involved in infectious diseases. A: Individuals in a population, infected with the same microbe, show a <one>high clinical variability</one>.
+- Nenne zwei Genprodukte, die bei der <one>Hutchinson-Gilford Progeria</one> betroffen sind. A: (1) <one>Lamin A</one> (2) <one>Lamin C</one> URL: https://en.wikipedia.org/wiki/Progeria#Lamin_A
+- The <one>L1 (LINE) element</one> can cause genetic diseases. Give one such example. A: <one>Hemophilia A</one>.
+- By the year <one>2009</one>: how many diseases could we <two>detect by genetic tests</two>? About <one>2000</one>.
+- How may <one>Xeroderma pigmentosum</one> be treated? Affected individuals should <one>avoid the sun</one>.
+- Inzidenz bei der Krankheit <one>Alkaptonuria</one>? <one>1 : 200.000</one>.
+- Name one way how to demonstrate <one>reciprocal translocation</one>? By <one>chromosome painting</one>.
+- How many men are <one>red-green colour blind</one>, in percent? About <one>8%</one>.
+- Warum ist gerade <one>Trisomie 21</one> beim Menschen so häufig? Weil das Chromosom 21 so klein ist; daher ist es relativ gesehen nicht so ein Problem verglichen mit, zum Beispiel, dem grössten Chromosom Nr. 1.
+- In <one>osteogenesis imperfecta</one> there is a point mutation in ... ? The <one>collagen sequence</one>.
+- Name two lysosomal storage disorders/diseases in mankind. A: (1) the <one>Gaucher disease</one> (2) the <one>Fabry disease</one>
+- Name <one>a genetic disease</one> that can be translated with the words <two>hereditary dwarfism</two> (in humans). A: <one>Achondroplasia</one>.
+- Ursache der <one>CML Krankheit</one>? Translokation des Chromosoms 22-9.
+- Bei der PKU (<one>Phenylketonurie</one>) kommt es nach Ausfall der Phenylalaninhydroxylase auch zu einer mentalen Retardation. Wieso eigentlich? Da <one>Dopamin</one> nicht gebildet wird.
+- If we can detect the <orange>Bence Jones protein</orange> in the urine, this may be indicative of which disease? <one>Multiple myeloma</one>. 
+- Nenne <one>eine Krankheit</one>, bei der man <two>molekular betrachtet keine Exzisionsreparatur sieht</two>. A: <one>Xeroderma pigmentosum</one>. []
+- Frequency of the Huntingon disease in Western countries? About 5 people per 100_000 are affected by HD.