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Understanding Hemophilia Pedigree Analysis

Apr 22, 2025

Miss Angler's Biology Class: Hemophilia Pedigree Analysis

Introduction

  • The lecture is focused on interpreting a hemophilia pedigree diagram and answering genetics exam questions.
  • The allele causing hemophilia is recessive and sex-linked, located on the X chromosome.
  • Key concepts:
    • Hemophilia being a sex-linked trait.
    • Recessive allele characteristics.

Pedigree Analysis Techniques

  • Initial Steps:

    1. Understand whether the cross is sex-linked or autosomal.
    2. For sex-linked, males have XY and females have XX chromosomes.
    3. Fill in each person's set of alleles for clarity and to minimize mistakes.
  • Identifying Hemophiliacs:

    • Males with hemophilia have one recessive allele on the X chromosome.
    • Females require two recessive alleles to exhibit hemophilia.
  • Analyzing Non-Hemophiliacs:

    • Males who are not hemophiliacs must have a dominant allele (capital H) on their X chromosome.
    • Females who might be carriers have one dominant and one recessive allele.

Detailed Example

  • Individual Analysis:

    • Example of mom (Individual 2) who has two sons with hemophilia, indicating she carries a recessive allele.
  • Daughter's Inheritance:

    • Daughters can inherit X from dad, and based on her children, you can deduce her allelic pattern.

Exam Question Breakdown

  • Questions and Answers:

    1. Phenotype of Individual 4: Normal female without hemophilia.
    2. Genotype of Individual 2: Already calculated from analysis.
    3. Explanation of Female Resistance to Hemophilia:
      • Females have two X chromosomes and need recessive alleles on both to express hemophilia, making them less susceptible.
  • Genetic Cross Representation:

    • Elements:
      • P1 and F1 generations.
      • Punnett squares for genotype and phenotype calculations.
    • Compulsory Marking:
      • Provide a percentage chance for hemophiliac offspring.
      • Example shown with a 50% chance for having a hemophiliac son.

Conclusion

  • Ensure to calculate and represent genetic crosses accurately.
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