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40 Cards in this Set
- Front
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Genetics State the different inheritance modes: |
1. Autosomal recessive 2. Autosomal dominant 3. X Linked recessive 4. X Linked dominant 5. Mitochondrial inheritance FA p. 59 Qbank oct3 Q#12 |
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Genetics 1. What is the Hardy-Weinberg principle |
It is a principle about allele frequencies for certain gene in terms of homozygosity or heterozygosity. KAP Biochem 374 FA 57 |
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Genetics What are the Hardy-Weinberg law assumptions |
No mutation occurring at the locus Natural selection is not occurring Completely random mating No net migration FA 2019 p. 87 |
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Genetics Hypophosphatemic rickets is an example of a X linked dominant disease. 1.What is the probability if non carrier male mates with an affected female. 2.What would be the case for an unaffected female and affected male? Kap Biochem 311 |
1. Affected female: 50% of male or 50% female offspring 2.Affected male: all female(100%) offspring will be affected and no male offspring FA 2019 p.58 |
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Genetics
State at least 8 X linked recessive diseases |
1. Ornithine Transcarbamylase deficiency 2. Wiskott-Aldrich syndrome 3. Ocular albinism 4. Glucose 6 phosphate dehydrogenase deficiency 5. Hunter syndrome 6. Bruton agammaglobulinemia 7. Hemophilia A and B 8 Lesch Nyhan syndrome
FA 2019 p. 61
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Genetics State an example of an autosomal dominant disease which clinically may be seen in blood tests depending on whether the patient is homozygous or heterozygous FA 2019 p. 94 |
II Familial Hyper Cholesterolemia. In where there is defective or non functional LDL receptors or ApoB-100. |
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Genetics I. What do we mean by genetic imprinting? II. What two syndromes are a classical example of this? |
I. One gene copy is silenced by methylation, only the only one copy of the pair of alleles is expressed. II.An example of this Angelman syndrome or Prader willi syndrome. FA 2019 p. 59 Kap 2019 321 |
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Genetics What do we mean by UNIPARENTAL DISOMY? |
Two copies from the same chromosome are inherited from one same parent. Also another cause of Angelman or Prader Willi syndrome. KAP Biochem 2019 p.321 |
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Genetics 1. State two syndromes consequence of sex chromosome aneuploidy. |
Kap Biochem 2019 p.351 1. Klinenfelter syndrome 2.Turner Syndrome |
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Genetics Design a quick algorithm to determine the type of inheritance |
Kap 2019 biochem p.312 |
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Genetics Explain what is and ASO probe and what is its utility? |
It stands for Allele Specific Oligonucleotide. Their products are put into a chip plate with reactives specific for each ASO and the final results lets us determine the genotype. Kap Biochem 2018 p. 391 |
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Genetics In X linked recessive what is the probability of: A. What would be the chances of affected male offspring when father is the affected. B. What would be the chances of affected male offspring when mother is carrier? C. Carrier daughters when affected father? D. Carrier daughters when carrier mother |
A. 0% B.50% C.100% E. 50% |
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Genetics Achondroplasia is of autosomal dominant inheritance. If a patient with this condition marries with a person who does not have such condition. 1.What is the probability of having offspring with such condition? 2. What is the probability of a person without the condition if actually two parents with the conditions conditions decided to have kids? |
1. 1/2 or 50% 2. 1/4 or 25% FA 2019 p.59-60 |
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Genetics
You have a couple of african amerians who want to have a kid, they are concerned with sickle cell anemia. However they ask the probability of having an affected child, a non carrier child or a carrier child if one of the parents is a carrier? |
First we have to know that sickle cell anemia is autosomal recessive mode of inheritance
Affected child: 1/4 Non affected child non carrier: 1/4 Non affected Carrier child: 1/2
FA 2019 p.59 |
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Genetics Cystic fibrosis is a disease that affects CFTR gene on chromosome 7, with common deletion of Phe 508. If a patient who has a sister with this condition, what is the probability of such patient to be carrier of the defective allele? |
Answer: 2/3 or .67 Justification? Because one first have to see that the person is unaffected, so that means that 3 of the 4 possible cases are unaffected, and of those 3 unaffected there is 2 carriers and 1 non carrier unaffected. (just draw the table). FA 2019 p.59 |
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Genetics What are indirect and direct diagnostic and in which one is used ? |
Direct: the mutation itself is examined Indirect: linked markers used to infer whether or not a individual has inherited a disease causing mutation. Kap Biochem 2018 p. 390 |
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Define the following two terms: 1. Variable expressivity 2. Incomplete penetrance |
1. Patients with same genotype have varying phenotypes. 2. Not all individuals with a mutant genotype show the mutant phenotype. FA p.56 |
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Genetics What is the Lyon Hypothesis |
During embryonic development only one X chromosome would be silenced while the other not.
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Genetics Briefly define the following terms and state an example A. Codominance B. Variable expressivity C. Incomplete penetrance D. Pleiotropy |
A. In a heterozygous both alleles contribute to phenotype > blood type AB B. Patients with same genotype have varying phenotypes > two patients with NF1 have varying disease severity C. Not all individuals with mutant genotype show the mutant phenotype D. One gene contributes to multiple phenotypic effects > phenylketonuria FA 2019 p. 56 |
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Genetics Briefly define the following terms and state an example A Loss of heterozygosity B Dominant negative mutation C Linkage disequilibrium D Mosaicism |
A. If patient develops or inherits a mutation in a tumor suppressor gene, the complementary must be deleted or mutated in order for cancer to develop > Retinoblastoma B. A heterozygote produces a non functional protein that also prevents normal gene product from functioning C. Tendency of certain alleles at 2 linked locti to occur more or less often than expected by chance. D. Presence of genetically distinct cell lines within same individual > McCune albright syndrome FA 2019 p. 56 |
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Genetics Briefly define the following terms and state an example A Heteroplasmy B Locus heterogeneity C Uniparental disomy D Anticipation |
A. Presence of both normal and mutated mRNA in the context of mitchondrial disease B. Mutations in different loci may cause the same mutation >albinism C. Offspring receives 2 copies of the same chromosome from only one parent and not the other. D. Increased severity or earlier onset of disease in succeeding generations. FA 2019 p. 56-57 FA 2019 p. 56 |
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Genetics A patient shows loss of vision by the age 14 and his sister also lossed vision by the age of 11. The patient has a family pedigree such as the one show. What its most likely made of inheritance? |
Patient is sufferent Leber hereditary optic neuropathy. Mitochondrial inheritance mode, notice how each generation both either female or male shoed the pathology however it only manifested on those whose mothers had the pathology. FA 2019 p.59 |
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Genetics Listo some of the most common autosomal recessive diseases |
Albinism Autosomal recessive polycystic kidney disease Cystic fibrosis Friedreich ataxia Glycogen storage disease Hemochromatosis Kartagener syndrome Mucopolysaccharidoses (except Hunters) Phenylketonuria Sickle cell anemia Sphingolipidoses (except Fabry) Thalassemias Wilson disease FA 2019 p.60 |
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Genetics List some of the most common autosomal dominant diseases |
Achondroplasia Autosomal domiant polycystic kideny disease Familial adenomatous polyposis Familial hypercholesterolemia Osler-Weber-Rendu Hereditary spherocytosis Huntington disease Li-Fraumeni syndrome Marfan syndrome MEN Myotonic muscular dystrophy Neurofibramtosis type I and type II Tuberosus sclerosis Von Hippel-Lindau syndrome Recklinghausen FA 2019 p.60 |
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Genetics State some of the most common related X linked disorders |
Ornithine transcarbamylase deficiency Fabry disease Wiskot-Alrich Ocular albinism Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch-Nyhan syndrome Duchene and Becker muscular dystrophies
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Genetics What causes fragile x syndrome and what are its common clinical findings? FA 2019 p. 62 Kap Biochem p 302 |
It is a X linked dominant inheritance, which consists on chrosome REPEATS and HYPERMETHYLATION and hence DECREASED EXPRESSION of FMR1gene. Clinical findings: -Mental retardation -Large face, big Jaw -Big ears -Macro-Orchidism (enlarged testis) -Mitral valve prolapse |
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Genetics What is Rett syndrome |
De novo mutation of MECP2 on X chromosome. Clinically Regression in motor, verbal and congtive abilities Ataxia, Seizures Growth failure Stereotyped hand wringling FA 2019 p.62 |
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Genetics For the following trinucleotide repeat mention a specific pathology and its mode of inheritance A.CAG B.CTG C.CGG D.GAA |
A. Huntingtons Autosomal dominant B. Myotonic dystrophy Autosomal dominant C. Fragile X syndrome X-linked dominant D. Friedreich ataxia Autosomal recessive FA 2019 p.62 |
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Genetics 1. What do we mean by aneuplody ? 2. Mention three disorders associated with autsomal aneuploidy. |
KAP Biochem 2019 p.348 FA 1. Gain or loss of a specific chromosome. Could be Trisomy or Monosomy. 2.Down syndrome, Edward Syndrome, Patau syndrome. (Trisomy) |
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Genetics What is non disjunction during meiosis? |
A situation in which homologous chromosomes are not separated during meiosis. Kap 2019 Biochem p.352 |
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Genetics 1. How do Meiosis I and Meiosis II differ in terms of nondisjunction? 2. A problem in which during which of Oogenesis may one person result in having ONLY monosomy or trisomy for certain gene? A. Oogonium B. Primary Oocye C. Secondary Oocyte 3. During spermatogenesis during which of the following would result in monosomy, trisommy and normal cells? A. Spermatogoium C.Secondary Spermatocyte D. Spermatid |
1. During Meiosis I a nondisjunction might result in Trisomy or Monosomy, however turing meiosis II nun disjunction results in normal, monosomy and trisomy. 2. B. Primary Oocyte 3. C. Secondary Spermatocyte FA 2019 p. 63, 617,615 |
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Genetics Mention sex chromosome related to aneupleudiy during meiotic non disjunction |
Klinefleter syndrome 47 XXY Turner syndrome 45 X0 Double y males 47 XYY Ovotesticular disorder of sex development 46XX>46 XY (not sure about this one) FA 2019 p. 624 |
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Genetics 1. What is a TRANSLOCATION 2. What types of translocation exist |
1. Situation in which parts of one chromosome are broken and added to another different chromosome. 1. Reciprocal and Reberstonian translocation Kap 2019 Biochem p.353 |
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Genetics 1. How are chromosomal anomalies classified? 2.State some chromosomal syndromes based on STRUCTURAL chromosomal alteration: |
1. Numerical anomalies or Structural 2.Cri-du-Chat>chromosome 5 and Williams syndrome on chromosome 7 |
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Genetics Related related to pathologies to the following chromosomes: 3 4 5 6 |
3 von Hippel-Lindeau, renal cell carcinoma 4 ADPKD (PKD2), achondroplasia, Huntington disease 5 Cri du Chat syndrome, familial adenomatous polyposis 6 Hemochromatosis FA 2019 p. 64 |
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Genetics Related related to pathologies to the following chromosomes: 7 9 11 13 15 16 |
7 Wiliams snydrome, cystic fibrosis 9 Friedreich ataxia, tuberous sclerosis (TSCI) 11 Wilms tumor, B-globin defect, MEN1 13 Patau syndrome, Wilson disease, Retinoblastoma, BCRA2 15 Prader Willi, Angelman, Marfan 16 ADPKD, alpha globin (alpha thalasemia), tuberous sclerosis FA 2019 p. 64 |
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Genetics Related related to pathologies to the following chromosomes: 17 18 21 22 X |
17 Neuofibromatosis type 1, BCRA1, TP53 18 Edwards syndrome 21 Down syndrome 22 Neurofibramatosis type 2 X Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome FA 2019 p. 64 |
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Genetics For the following translocations assoiciate the different types of pathology A. t(8;14) B. t(11;14) C. t(11;18) D. t(14;18) E. t(15;17) F. t(9;22) |
A. Burkitt B. Mantle Cell C. Marginal Zone lymphoma D. Follicular lymphoma E. Acute Myelogenous Leukemia F. Chronic Myelogenous Leukemia FA 2019 p. 424 , p.426 |
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Laboratory techniques 1. What is the technique used in Karyotiping? 2. What used does this technique have? |
1. Colchicine is added to cells to stop them in metaphase. Then they are organized according to morphology, size, arm lenght ratio and banding pattern. 2. Used to detect trisomies or sex chromosomes disorders FA 2019 p. 55 |
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Laboratory techniques 1. How does floursence in situ hybridization work? 2. What types of chromosomal alterations may be observed with this technique? |
1. Floursecent DNA or RNA probe bind to specific gene sites of interest in chromosome. Each probe has a specific solor type. 2. Microdeletion, Translocation and Duplication may be observed. FA 2019 p. 55 |
