Exploring Genetic Causes of Diseases

DNA, genes, chromosomes

In DNA

23 pairs

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

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

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

<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

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

<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

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

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

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

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

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

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

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

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

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

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

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

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

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

<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

<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

<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

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

<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

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

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

<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

<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

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