In humans, there are four typical modes of inheritance for Mendelian diseases: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant. For any pedigree, we may or may not be able to exclude some of these possibilities. Assume that no new mutations arise within the pedigrees-the disease-causing alleles are present from the start. a b c

In humans, there are four typical modes of inheritance for Mendelian diseases: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant. For any pedigree, we may or may not be able to exclude some of these possibilities. Assume that no new mutations arise within the pedigrees-the disease-causing alleles are present from the start. a b c

Name: a) Which of the four modes of inheritance are consistent with the dise
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Description: a) Which of the four modes of inheritance are consistent with the disease shown in this human pedigrees below? (List the compatible mode or modes) Give an answer for a, b and cb) If the parents in pedigree c have 2 other children, what is the probabi

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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Duchenne muscular dystrophy is a recessive disorder caused by a rare,loss-of-function allele that is located on the X chromosome in humans. Anunaffected woman (i.e., without disease symptoms) who is heterozygousfor the X-linked allele causing Duchenne muscular dystrophy has childrenwith a man with a functional (non-disease-causing) allele. What is theprobability that this couple will have an unaffected son?
In the following pedigree, is the disorder’s mode of inheritanceautosomal dominant, autosomal recessive, or X-linked recessive?Explain your reasoning.
When examining a human pedigree, what features do you look forto distinguish between X-linked recessive inheritance and autosomal recessive inheritance? How would you distinguish X-linkeddominant inheritance from autosomal dominant inheritance in ahuman pedigree?
For a certain gene in a diploid organism, eight units ofprotein product are needed for normal function. Eachwild-type allele produces five units.a. If a mutation creates a null allele, do you think thisallele will be recessive or dominant?b. What assumptions need to be made to answer part a?
Many genetic disorders exhibit locus heterogeneity. Define andgive two examples of locus heterogeneity. How does locus heterogeneityconfound a pedigree analysis?
A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?
Retinitis pigmentosa, a form of blindness in man, maybe caused either by a dominant autosomal gene R, or a recessive autosomal gene a. An afflicted man whose parents are both normal marries a woman with genotype AaRr. a. What proportion of the children are expected to suffer from this affliction if R and A are inherited independently? b. If this couple want to have normal children only, what isthe probability of having normal children?
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. In mice, the dominant allele Gs of the X-linked geneGreasy produces shiny fur, while the recessive wildtype Gs+ allele determines normal fur. The dominantallele Bhd of the X-linked Broadhead gene causesskeletal abnormalities including broad heads andsnouts, while the recessive wild-type Bhd+ alleleyields normal skeletons. Female mice heterozygousfor the two alleles of both genes were mated withwild-type males. Among 100 male progeny of thiscross, 49 had shiny fur, 48 had skeletal abnormalities,2 had shiny fur and skeletal abnormalities, and 1 waswild type.a. Diagram the cross described and calculate thedistance between the two genes.b. What would have been the results if you hadcounted 100 female progeny of the cross?
This pedigree traces the inheritance of a trait in humans. Based on this pedigree, is the allele for this disease dominant or recessive? Is it sex-linked? Explain. What genotypes are most probable for the individuals labeled 4, 7, and 10?
Genes that cause Prader-Willi syndrome and Angelman syndromeare closely linked along chromosome 15. Although people withthese syndromes do not usually reproduce, let’s suppose that acouple produces two children with Angelman syndrome. The oldestchild (named Pat) grows up and has two children with Prader-Willi syndrome. The second child (named Robin) grows up andhas one child with Angelman syndrome.A. Are Pat and Robin’s parents both phenotypically normal ordoes one of them have Angelman or Prader-Willi syndrome? Ifone of them has a disorder, state whether it is the mother or thefather, and explain how you know.B. What are the sexes of Pat and Robin?