1.40: Diseases of Genetic Origin
- Page ID
- 38620
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\(\newcommand{\avec}{\mathbf a}\) \(\newcommand{\bvec}{\mathbf b}\) \(\newcommand{\cvec}{\mathbf c}\) \(\newcommand{\dvec}{\mathbf d}\) \(\newcommand{\dtil}{\widetilde{\mathbf d}}\) \(\newcommand{\evec}{\mathbf e}\) \(\newcommand{\fvec}{\mathbf f}\) \(\newcommand{\nvec}{\mathbf n}\) \(\newcommand{\pvec}{\mathbf p}\) \(\newcommand{\qvec}{\mathbf q}\) \(\newcommand{\svec}{\mathbf s}\) \(\newcommand{\tvec}{\mathbf t}\) \(\newcommand{\uvec}{\mathbf u}\) \(\newcommand{\vvec}{\mathbf v}\) \(\newcommand{\wvec}{\mathbf w}\) \(\newcommand{\xvec}{\mathbf x}\) \(\newcommand{\yvec}{\mathbf y}\) \(\newcommand{\zvec}{\mathbf z}\) \(\newcommand{\rvec}{\mathbf r}\) \(\newcommand{\mvec}{\mathbf m}\) \(\newcommand{\zerovec}{\mathbf 0}\) \(\newcommand{\onevec}{\mathbf 1}\) \(\newcommand{\real}{\mathbb R}\) \(\newcommand{\twovec}[2]{\left[\begin{array}{r}#1 \\ #2 \end{array}\right]}\) \(\newcommand{\ctwovec}[2]{\left[\begin{array}{c}#1 \\ #2 \end{array}\right]}\) \(\newcommand{\threevec}[3]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \end{array}\right]}\) \(\newcommand{\cthreevec}[3]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \end{array}\right]}\) \(\newcommand{\fourvec}[4]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \\ #4 \end{array}\right]}\) \(\newcommand{\cfourvec}[4]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \\ #4 \end{array}\right]}\) \(\newcommand{\fivevec}[5]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \\ #4 \\ #5 \\ \end{array}\right]}\) \(\newcommand{\cfivevec}[5]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \\ #4 \\ #5 \\ \end{array}\right]}\) \(\newcommand{\mattwo}[4]{\left[\begin{array}{rr}#1 \amp #2 \\ #3 \amp #4 \\ \end{array}\right]}\) \(\newcommand{\laspan}[1]{\text{Span}\{#1\}}\) \(\newcommand{\bcal}{\cal B}\) \(\newcommand{\ccal}{\cal C}\) \(\newcommand{\scal}{\cal S}\) \(\newcommand{\wcal}{\cal W}\) \(\newcommand{\ecal}{\cal E}\) \(\newcommand{\coords}[2]{\left\{#1\right\}_{#2}}\) \(\newcommand{\gray}[1]{\color{gray}{#1}}\) \(\newcommand{\lgray}[1]{\color{lightgray}{#1}}\) \(\newcommand{\rank}{\operatorname{rank}}\) \(\newcommand{\row}{\text{Row}}\) \(\newcommand{\col}{\text{Col}}\) \(\renewcommand{\row}{\text{Row}}\) \(\newcommand{\nul}{\text{Nul}}\) \(\newcommand{\var}{\text{Var}}\) \(\newcommand{\corr}{\text{corr}}\) \(\newcommand{\len}[1]{\left|#1\right|}\) \(\newcommand{\bbar}{\overline{\bvec}}\) \(\newcommand{\bhat}{\widehat{\bvec}}\) \(\newcommand{\bperp}{\bvec^\perp}\) \(\newcommand{\xhat}{\widehat{\xvec}}\) \(\newcommand{\vhat}{\widehat{\vvec}}\) \(\newcommand{\uhat}{\widehat{\uvec}}\) \(\newcommand{\what}{\widehat{\wvec}}\) \(\newcommand{\Sighat}{\widehat{\Sigma}}\) \(\newcommand{\lt}{<}\) \(\newcommand{\gt}{>}\) \(\newcommand{\amp}{&}\) \(\definecolor{fillinmathshade}{gray}{0.9}\)- A certain trait is expressed independent of gender and even though each person is not homozygous for the gene. This type of inheritance is best termed as:
- autosomal recessive
- autosomal dominant
- X-linked dominant
- X-linked recessive
- multifactorial
- “Lyonization” is a process by
- Barr body analysis of cells is made
- chromosomes are displayed in metaphase cells
- phenylalanine is detected in urine
- amino acidurias are screened in newborns
- X-chromosome in each female’s cells is randomly inactivated
- Organic acidurias occur as a result of:
- glycogen storage diseases
- aminoacidopathies
- errors of urea metabolism
- defects of copper metabolism
- LDL receptor defects
- The Lesch-Nyhan syndrome is associated with a defect in the metabolism of:
- amino acids
- minerals
- glycogen
- purines
- pyridines
- Match the following tests used to detect carriers of inborn errors with the disorder that they are designed to’ detect
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Use the following KEY to answer Questions 6-14:
- 1, 2, and 3 are correct
- 1 and 3 are correct
- 2 and 4 are correct
- only 4 is correct
- all are correct
- The basic premise(s) of the role of genes include the following:
- one structural gene encodes a polypeptide with a specific function
- one structural gene is paired with a regulatory one defining a structural protein
- a mutation of a structural gene results in a structurally altered polypeptide
- structural genes are limited in length to specific chromosomes
- Testing for phenylketonuria and galactosemia is important because:
- the fetus can be terminated
- the fetus can be given enzymes to prevent defects
- the urinary excretion of amino acids and sugars can be reduced with consequent salvage of the kidney
- these diseases can be controlled by diet
- Alpha-fetoprotein:
- is a plasma protein made by the fetal liver
- is virtually non-detectable in non-pregnant females
- if present in elevated amounts (2.5 times MOM) indicates fetal or pregnancy complications
- is present in equivalent amounts in maternal serum and amniotic fluid
- Measurements of serum alpha-fetoprotein levels may be requested for:
- diagnosis of acute hepatitis
- screening for fetal neural tube defects
- diagnosis of spina bifida
- monitoring progress of certain cancers
- Which of the following are considered inborn errors of metabolism:
- amino acidopathies
- organic acidurias
- glycogen storage diseases
- Wilson’s disease
- A Structural gene locus can have a series of alleles. Which of the following are alleles?
- Duffey blood groups a and b
- hemoglobin A and hemoglobin S
- thalassemia
- hemoglobin A and C
- Which of the following describe lysosomal storage diseases?
- recessively inherited disorders
- deficiency of specific acid hydrolases
- deficiency of hydrolases located within lysozomes
- autosomal dominant disorders
- Inherited diseases can result in enzyme deficiencies. These can be the biochemical basis for a disease because of:
- lack of production of a product
- accumulation of substrate
- shunting of substrate to alternate pathway with production of a toxic compound
- urinary loss of metabolites
- Inherited diseases of intermediary metabolism often produce:
- reduced serum levels of normal metabolites
- elevated urinary excretion of normal metabolites
- normal to lower excretion of normal metabolites
- urinary excretion of an abnormal metabolite
- Answer
-
- b (p. 910-912)
- e (p. 911)
- b (p. 926)
- d (p. 931)
-
- b (p. 921)
- c (p. 912)
- a (p. 915, 932)
- f (p. 912, 934)
- g (p. 920-922)
- b (p. 910)
- d (p. 924)
- a (p. 934)
- c (p. 934)
- e (p. 919-932)
- a (p. 910)
- a (p. 919)
- a (p. 923)
- c (p. 923)