Exploring Genetic Causes of Diseases
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Questions and Answers

What are the components of genetics discussed in the slides?

DNA, genes, chromosomes

How is genetic information stored in humans?

In DNA

How many pairs of chromosomes are found in a typical normal human cell?

23 pairs

Where do individuals inherit one member of each pair of chromosomes from?

<p>Father and mother</p> Signup and view all the answers

What are homologous chromosomes?

<p>Chromosomes that carry matching genetic information</p> Signup and view all the answers

What is the structure of DNA that contains genetic instructions for living organisms?

<p>Double helix</p> Signup and view all the answers

Explain the inheritance pattern of X-linked disorders when a heterozygous carrier female parent mates with a normal male parent.

<p>Sons are hemizygous affected 50% of the time, daughters are normal heterozygous carriers 50% of the time, and normal homozygous 50% of the time.</p> Signup and view all the answers

Describe the impact of point mutations in genetic disorders.

<p>Point mutations involve single nucleotide changes, such as substitution, insertion, or deletion.</p> Signup and view all the answers

What is the pathogenesis of autosomal recessive disorders caused by loss of function mutations?

<p>Homozygotes have no normal enzyme leading to disease, while heterozygotes have equal amounts of normal and defective enzymes.</p> Signup and view all the answers

Explain the genetic implication of Y-linked inheritance.

<p>Y-linked traits are carried on the Y chromosome, such as male-pattern baldness.</p> Signup and view all the answers

How do rare traits in a population affect the probability of parental consanguinity?

<p>If a trait is rare, the probability of parental consanguinity is increased.</p> Signup and view all the answers

What are the medical implications of genetic disorders?

<p>Diagnosis involves genetic testing for mutation identification, and treatment focuses on managing symptoms and complications.</p> Signup and view all the answers

What type of genetic disorders are caused by the combined actions of environmental factors and two or more mutant genes?

<p>Multifactorial genetic disorders</p> Signup and view all the answers

In which type of genetic disorders do most individuals who inherit the anomaly show phenotypic effects?

<p>Mendelian disorders</p> Signup and view all the answers

What is the classification of genetic disorders caused by a single mutant gene that affects transcription, mRNA processing, or translation?

<p>Mendelian disorders</p> Signup and view all the answers

What is the inheritance pattern in autosomal dominant disorders?

<p>Dominant</p> Signup and view all the answers

Which genetic disorders are caused by loss of function mutations resulting in inactive or decreased regulatory proteins?

<p>Autosomal dominant disorders</p> Signup and view all the answers

Give an example of an autosomal dominant disorder caused by gain of function mutations.

<p>Huntington disease</p> Signup and view all the answers

What type of inheritance is suspected in a pedigree showing affected siblings with normal parents?

<p>Autosomal recessive</p> Signup and view all the answers

In the mating of two phenotypically normal heterozygotes, what is the segregation frequency with each pregnancy?

<p>25% homozygous normal, 50% heterozygous normal, 25% homozygous affected</p> Signup and view all the answers

What type of genetic disorders show additive effects with the number of inherited mutant genes?

<p>Multifactorial genetic disorders</p> Signup and view all the answers

Which category of genetic disorders includes conditions like storage diseases and inborn errors of metabolism?

<p>Mendelian disorders</p> Signup and view all the answers

What are the two basic functions of DNA?

<ol> <li>Codes for proteins important for cell functions. 2. Transmits genetic information to daughter cells and offspring.</li> </ol> Signup and view all the answers

Define genes and chromosomes.

<p>Genes are segments of DNA that code for specific traits. Chromosomes are structures composed of DNA and proteins in the cell nucleus.</p> Signup and view all the answers

Explain how genetic information is translated into proteins.

<p>Genetic information is transcribed from DNA to mRNA, which then codes for specific amino acids during translation.</p> Signup and view all the answers

What are mutations?

<p>Mutations are permanent changes in the DNA sequence.</p> Signup and view all the answers

What are the two types of mutations based on the cells they occur in?

<p>Germline mutations occur in sperm or oocytes and can be inherited. Somatic mutations occur in non-reproductive cells and do not pass to offspring.</p> Signup and view all the answers

What are Mendelian disorders?

<p>Mendelian disorders are genetic diseases following classic inheritance patterns based on single gene mutations.</p> Signup and view all the answers

Explain chromosomal disorders.

<p>Chromosomal disorders result from abnormal chromosome structure or number mutations.</p> Signup and view all the answers

What are numerical anomalies in chromosomes?

<p>Numerical anomalies can lead to aneuploidy (addition or loss of chromosomes) or polyploidy (addition of complete sets of chromosomes).</p> Signup and view all the answers

Describe Down syndrome.

<p>Down syndrome is characterized by features like mental retardation, broad nasal bridge, wide-spaced eyes, and congenital heart disease.</p> Signup and view all the answers

What are multifactorial disorders?

<p>Multifactorial disorders are common genetic conditions influenced by multiple factors, more prevalent than Mendelian disorders.</p> Signup and view all the answers

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