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Hungtington disorder is a progressive degeneration of the nervous system that be

ID: 28943 • Letter: H

Question

Hungtington disorder is a progressive degeneration of the nervous system that begins at middle age and results in an early death. It is caused by a single autosomal gene mutation that acts in a dominant fashion. a/ a 40 year old man was just diagnosed with Huntington disorder. What could his genotypes be? b/ His wife went for genetic screening for the Huntington allele and learned that she did not have it. What is her genotype? c/ Assume it was determined through genetic screening that the husband only had one copy of the Huntington allele. What must his genotype be? d/ Draw a Punnett square to determine their children. e/ Circle the genotypes of the children who have the HUntington allele. f/ This couple has a 12 year old son. What is the chance that he inderited the disorder? g/ Now assume it was determined through genetic screening that the husband had two copies of the Huntington allele. What must his genotype be? h/ Draw a Punnett square to determine their children. i/ Now what is the chance that the son inherited the disorder?

Explanation / Answer

The genotype is the genetic makeup of a cell, an organism, or an individual (i.e. the specific allele makeup of the individual) usually with reference to a specific character under consideration.[1] For instance, the human CFTR gene, which encodes a protein that transports chloride ions across cell membranes, can be dominant (A) as the normal version of the gene, or recessive (a) as a mutated version of the gene. Individuals receiving two recessive alleles will be diagnosed with Cystic fibrosis. It is generally accepted that inherited genotype, transmitted epigenetic factors, and non-hereditary environmental variation contribute to the phenotype of an individual. Non-hereditary DNA mutations are not classically understood as representing the individual's genotype. Hence, scientists and physicians sometimes talk for example about the (geno)type of a particular cancer, that is the genotype of the disease as distinct from the diseased. If B represents the allele for Brown eyes and b for blue eyes: (A) The genotype of man would be Bb (B) The genotype of woman would be bb (C) The genotype of blue eyed child would also be bb (D) The man would have B and b gametes at a 1:1 ratio (E) The probability of next child having brown eyes would be 50%

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