A gene is found on the X chromosome of humans. A recessive allele leads to loss of the gene function. Using a notation that distinguishes a normal X chromosome and a mutated X chromosome, indicate the genotype of an affected male, a normal male, an affected female, a normal female who carries the mutation, and normal female who can have all normal sons. Try the same exercise for a mutated allele that is dominant over the normall allele.
Case 1: A recessive allele leads to loss of the gene function. XA – normal X chromosome Xa - mutated X chromosome The genotypes : 46XaY – affected male 46XAY – normal male 46XaXa – affected female 46XAXa – normal female who carries the mutation 46XAXA - normal female who can have all normal sons Case 2: A mutated allele that is dominant over the normall allele. Xb– normal X chromosome XB - mutated X chromosome The genotypes : 46XBY – affected male 46XbY – normal male 46XBXB – affected female homozygote 46XBXb – affected female heterozygote 46XbXb - normal female who can have all normal sons
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