Concept explainers
Marfan syndrome is an autosomal dominant disorder in humans. It results from mutation of the gene on chromosome
Since all cases of Marfan syndrome are caused by mutation of the fibrillin gene, and all family members with Marfan syndrome carry the same mutant allele, how do you e xplain the differences shown in the pedigree?
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GENETIC ANALYSIS: INTEGRATED - ACCESS
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- Sickle cell disease— what is the background of this disorder: include the name of the disorder, any alternate names used, provide a description of the disorder, and the typical age of onset. What is the Type of genetic disorder: explain if and how this disorder is inherited. Explain the genetic causes of the disorder. Is it inherited? Is the disorder a dominant or recessive trait? Which chromosome is affected in this disorder? Is a gene mutated? If so, name the gene that is affected? How is gene expression impacted (is it a particular type of mutation, a case of a misshapen protein, etc.?)arrow_forwardTalk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.arrow_forwardGene mutations can be classified in two major ways:(1) hereditary or germline mutations that are inherited from a parent and are present throughout a person’s life in virtually every cell in the body.(2) acquired or somatic mutations that occur at some time during a person’s life and are present only in certain cells, not in every cell in the body.If there is no family history of a particular disease but a child has the disease then it may have arisen due to a(n) ________ mutation early during development. A) acquired B) inherited C) silent D) transitionarrow_forward
- Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. Assuming that no new mutations occurred in this family, explain the presence of an autosomal recessive disease in the child…arrow_forwardJunctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. How might you go about proving your explanation? Assume that a number of genetic markers are available for each chromosome.arrow_forwardWhat is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.arrow_forward
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