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In humans, mutations in the aristaless-related homeobox (ARX) gene cause intellectual disability and infantile spasm disorders. This gene is on the X chromosome. One of the mutant alleles identified is a 24 bp duplication. For this problem let's refer to the wild type allele as ARX* and the mutant allele as ARXdup. The mutant allele is recessive to the wild type allele. A study on the inheritance of ARXdup in 2012 by Shoubridge et al published in the European Journal of Human Genetics (vol. 20, pages 1311-1314) collected data on the children born to women who were carriers for this mutation, i.e. the mothers had genotype as ARX+ / ARXdup They collected data from many families where the mother was a heterozygous carrier and the father was unaffected. In a total of 286 male children of carrier mothers, the following was observed: 188 affected males 98 unaffected males Answer the following questions and show all of the work needed to get the answers. A. What are the genotypes of the affected male children and the unaffected male children in this study? B. Out of 286 male children of carrier mothers, how many affected and unaffected children would you expect to see? C. Perform a Chi-square test to evaluate the goodness of fit between the observed and expected distributions.

In humans, mutations in the aristaless-related homeobox (ARX) gene cause intellectual disability and infantile spasm disorders. This gene is on the X chromosome. One of the mutant alleles identified is a 24 bp duplication. For this problem let's refer to the wild type allele as ARX* and the mutant allele as ARXdup. The mutant allele is recessive to the wild type allele. A study on the inheritance of ARXdup in 2012 by Shoubridge et al published in the European Journal of Human Genetics (vol. 20, pages 1311-1314) collected data on the children born to women who were carriers for this mutation, i.e. the mothers had genotype as ARX+ / ARXdup They collected data from many families where the mother was a heterozygous carrier and the father was unaffected. In a total of 286 male children of carrier mothers, the following was observed: 188 affected males 98 unaffected males Answer the following questions and show all of the work needed to get the answers. A. What are the genotypes of the affected male children and the unaffected male children in this study? B. Out of 286 male children of carrier mothers, how many affected and unaffected children would you expect to see? C. Perform a Chi-square test to evaluate the goodness of fit between the observed and expected distributions.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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In humans, mutations in the aristaless-related homeobox (ARX) gene cause intellectual disability and infantile spasm disorders. This gene is on the X chromosome. One of the mutant alleles identified is a 24 bp duplication. For this problem let's refer to the wild type allele as ARX* and the mutant allele as ARXdup. The mutant allele is recessive to the wild type allele. A study on the inheritance of ARXdup in 2012 by Shoubridge et al published in the European Journal of Human Genetics (vol. 20, pages 1311-1314) collected data on the children born to women who were carriers for this mutation, i.e. the mothers had genotype as ARX+ / ARXdup They collected data from many families where the mother was a heterozygous carrier and the father was unaffected. In a total of 286 male children of carrier mothers, the following was observed: 188 affected males 98 unaffected males Answer the following questions and show all of the work needed to get the answers. A. What are the genotypes of the affected male children and the unaffected male children in this study? B. Out of 286 male children of carrier mothers, how many affected and unaffected children would you expect to see? C. Perform a Chi-square test to evaluate the goodness of fit between the observed and expected distributions.
Transcribed Image Text:In humans, mutations in the aristaless-related homeobox (ARX) gene cause intellectual disability and infantile spasm disorders. This gene is on the X chromosome. One of the mutant alleles identified is a 24 bp duplication. For this problem let's refer to the wild type allele as ARX* and the mutant allele as ARXdup. The mutant allele is recessive to the wild type allele. A study on the inheritance of ARXdup in 2012 by Shoubridge et al published in the European Journal of Human Genetics (vol. 20, pages 1311-1314) collected data on the children born to women who were carriers for this mutation, i.e. the mothers had genotype as ARX+ / ARXdup They collected data from many families where the mother was a heterozygous carrier and the father was unaffected. In a total of 286 male children of carrier mothers, the following was observed: 188 affected males 98 unaffected males Answer the following questions and show all of the work needed to get the answers. A. What are the genotypes of the affected male children and the unaffected male children in this study? B. Out of 286 male children of carrier mothers, how many affected and unaffected children would you expect to see? C. Perform a Chi-square test to evaluate the goodness of fit between the observed and expected distributions.
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