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Name: To detect the CAG repeat expansion with a particular gene where 30 rep
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Description: To detect the CAG repeat expansion with a particular gene where 30 repeats in Normal changes to 250 repeats in a certain disease, how can we diagnose the condition. How To identify Y chromosome microdeletion ( which involves the deletion of AZF locus

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To detect the CAG repeat expansion with a particular gene where 30 repeats in Normal changes to 250 repeats in a certain disease, how can we diagnose the condition.

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section16.2: Abnormalities In Chromosome Number And Structure

Problem 2C

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Suppose, you want to detect the CAG repeat expansion within a particular gene (30 repeats in normal changes to 250 repeats in disease) in a certain disease. How will you diagnose this disease condition? Can you identify Y chromosome microdeletion (which involves the deletion of AZF locus) using conventional karyotyping? If not, then why? How will you diagnose a chromosomal translocation event? (Discuss any one of the processes)
Explain two ways that a chromosomal rearrangement can cause a position effect.
2 3 4 5 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 ху Which chromosome set has an extra What diagnosis would you give this patient?. Finish the notation for this patient's karyotype: What causes a dark band on the chromosome? What is a centromere?
A normal appearing female infant was identified with a positive newborn screen, linked to chromosome 12. Few years ago, her older sibling had developed profound hypoglycemia, liver failure leading to coma, and subsequent irreparable brain damage, following a viral illness. The sibling was subsequently shown by clinical testing to have the same disorder that this female infant is screened positive for. a. What is the most likely diagnosis? b. What biomarkers would confirm this on the newborn screening process? Describe the mechanism that causes this metabolic defect.
For questions 22 through 30, please refer to the pictures below: Normal B B B C D D D D' E E 22 23 24 B D G. Y D M H. B C E 25 26 27 28 B D Break through centromere B B A D 29 30 Identify the type of chromosomal aberration in each number above. Please refer to the choices below. Reciprocal translocation Robertsonian translocation Isochromosome Terminal deletion Interstitial deletion Duplication Pericentric inversion Ring chromosome Marker chromosome Paracentric inversion
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In an in situ hybridization experiment, a certain clonebound to only the X chromosome in a boy with no diseasesymptoms. However, in a boy with Duchenne musculardystrophy (X-linked recessive disease), it bound to theX chromosome and to an autosome. Explain. Could thisclone be useful in isolating the gene for Duchenne muscular dystrophy?