Four children of a man and woman who are second cousins have too few teeth,an autosomal recessive condition called oligodontia caused by mutation in a gene called LTPB3 on chromosome 11.The affected individuals are also short with increased bone density in the spine and skull.The protein that causes the symptoms by affecting certain bone cells is too short.The mutation in this family is most likely

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Oligodontia is an autosomal recessive condition, which means individuals need two copies of the mutated gene to show the symptoms. A nonsense mutation introduces a premature stop codon, leading to the production of a truncated protein, which may result in a loss of protein function. The affected individuals are also short with increased bone density in the spine and skull because of the mutation's effects on bone cells. A missense mutation or deletion/duplication of the gene may lead to a dysfunctional protein but may not always cause a truncated protein, affecting the bone cells' functioning. A replacement of all purines with pyrimidines in the DNA sequence would cause a frameshift mutation that alters the protein's amino acid sequence, which is likely to affect the protein's function but not necessarily cause it to be shorter.

Four Children of a Man and Woman Who Are Second