Pedigree Analysis

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7 Terms

1
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Pedigree Analysis

  • What

  • Importance

What: Method to study family history to figure out how traits or diseases are inherited

Importance:

  • To determine if trait is dominant or recessive

  • To identify deleterious alleles

  • Shows risk of genetic diseases especially in related families

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Dominant Gene Action

  • Affected individual has

  • Result of affected individual mating with unaffected individuals

  • 2 affected individuals’ children maybe

  • 2 unaffected individuals’ children are

  • Skipped generations?

Affected individual has: At least one affected parent

Result of affected individual mating with unaffected individuals: 50% chance of transmitting dominant allele

2 affected individuals’ children maybe: Unaffected

2 unaffected individuals’ children are: Only unaffected

Skipped generations: No, phenotype appears in every generation

<p><strong><u>Affected individual has:</u> </strong>At least <span style="color: blue"><strong>one affected parent</strong></span></p><p><strong><u>Result of affected individual mating with unaffected individuals:</u> 50% </strong>chance of<span style="color: blue"> <strong>transmitting dominant allele</strong></span></p><p><strong><u>2 affected individuals’ children maybe:</u> </strong><span style="color: blue"><strong>Unaffected</strong></span></p><p><strong><u>2 unaffected individuals’ children are:</u> </strong><span style="color: blue"><strong>Only unaffected</strong></span></p><p><strong><u>Skipped generations:</u> </strong><span style="color: blue"><strong>No, phenotype</strong></span><strong> </strong>appears in <span style="color: blue"><strong>every generation </strong></span></p><p></p>
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Autosomal Dominant

  • What

  • So if heterozygous?

  • Gender bias?

  • Affected child means

  • Unaffected child means

  • Affected outsiders marrying into family, are assumed to be

  • Skipped generations?

What: Where a disorder is caused by one copy of a mutated gene on a non-sex chromosome (autosome)

If heterozygous: Shows the disease/trait

Gender bias: No, both genders are affected equally

Affected child: Means at least one parent is affected (homo dominant or heterozygous)

Unaffected child: They are homozygous recessive and have unaffected parents (who cannot pass the trait)

Affected outsiders, assumed to be: Heterozygous

Skipped generations: No, every generation shows trait

<p><strong><u>What:</u> </strong>Where a <span style="color: #a700ff"><strong>disorder</strong></span><strong> </strong>is caused by <span style="color: #a700ff"><strong>one</strong></span><strong> </strong>copy of a <span style="color: #a700ff"><strong>mutated gene</strong></span><span style="color: #a700ff"><strong> </strong></span>on a <span style="color: #a700ff"><strong>non-sex chromosome</strong></span><span style="color: #a700ff"><strong> </strong></span>(<em>autosome</em>)</p><p><strong><u>If heterozygous:</u> </strong>Shows the <span style="color: #a700ff"><strong>disease/trait</strong></span></p><p><strong><u>Gender bias:</u> </strong><span style="color: #a700ff"><strong>No</strong>, <strong>both genders</strong></span><span style="color: rgb(255, 0, 179)"><strong> </strong></span>are affected <span style="color: #a700ff"><strong>equally</strong></span></p><p><strong><u>Affected child:</u> </strong>Means <span style="color: #a700ff"><strong>at least one</strong></span><strong> </strong>parent is <span style="color: #a700ff"><strong>affected</strong></span><strong> </strong>(<em>homo dominant or heterozygous</em>)</p><p><strong><u>Unaffected child:</u> </strong>They are <span style="color: #a700ff"><strong>homozygous recessive</strong></span><strong> </strong>and have <span style="color: #a700ff"><strong>unaffected parents</strong></span><span style="color: #a700ff"><strong> </strong></span>(<em>who cannot pass the trait</em>)</p><p><strong><u>Affected outsiders, assumed to be:</u> </strong><span style="color: #a700ff"><strong>Heterozygous</strong></span></p><p><strong><u>Skipped generations:</u></strong><span style="color: rgb(255, 0, 179)"><strong> </strong></span><span style="color: #a700ff"><strong>No</strong>, <strong>every generation shows</strong></span><span style="color: rgb(255, 0, 179)"><strong> </strong></span>trait</p>
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Recessive Gene Action

  • Affected individual means their parents are

  • All children of affected individuals are

Affected individual may have a parents that is: Not affected (heterozygous)

All children of affected individuals are: Affected

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Autosomal Recessive

  • All affected are

  • Unaffected outsiders are

All affected are: Homozygous

Unaffected outsiders are: Homozygous

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For sex-linked dominant, mothers and fathers pass their X to?

  • Mothers = both sons and daughters

  • Fathers = daughters only

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What is co dominance?

When heterozygous shows the phenotypic effect of both alleles fully and equally