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What characteristics of the pedigree suggest that
pancreatic cancer in this family is inherited as an autosomal dominant
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- What characteristics of the pedigree shown in Figure 23.1 suggest thatpancreatic cancer in this family is inherited as an autosomal dominanttrait?Pancreatic cancer is clearly inherited as an autosomal dominant trait in the family illustrated in Figure 23.1. Yet most cases of pancreatic cancer are sporadic, appearing as isolated cases in families with no obvious inheritance. How can a trait be strongly inherited in one family and not inherited in another?Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…
- In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.
- The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia. This disorder is characterized by an elevated level of serumcholesterol in the blood. Though relatively rare, this geneticabnormality can be a contributing factor to heart attacks. At themolecular level, this disease is caused by a defective gene thatencodes a protein called low-density lipoprotein receptor (LDLR).In the bloodstream, serum cholesterol is bound to a carrier proteinknown as low-density lipoprotein (LDL). LDL binds to LDLR,which enables cells to absorb cholesterol. When LDLR is defective,it becomes more difficult for the cells to absorb cholesterol. Thisexplains why the blood level of cholesterol remains high. Basedon the pedigree, what is the most likely pattern of inheritance ofthis disorder?What is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.The following pedigree illustrates the inheritance of ringed hair, a condition in which each hair is differentiated into light and dark zones. What mode or modes of inheritance are possible for the ringed-hair trait in this family?
- Could the pedigree in Figure 2-31 be explained as an autosomal dominant disorder? Explain.This is a typical pedigree for a family that carries neurofibromatosis. Is individual I-2 most likely homozygous or heterozygous? Why? Explain.Why does this translocation cause leukemia rather than cancer in a different tissue type, such as the lung?