Question 1 diagnostic testing of patients with

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Question 1 Diagnostic testing of patients with fragile X syndrome is performed by digesting the sample DNA with restriction enzymes. 46 of paternal origin and 23 of maternal originD. which have a high malignant potential. but no fetus is present. 23 of paternal origin and 23 of maternal origin E. all of maternal origin C. all of which are paternal in origin. G-banding of metaphase chromosomes B. denaturing the fragments. What finding would you expect from chromosome analysis and subsequent DNA testing of tissue from thecomplete mole? A. 69 chromosomes. Exon trapping FISH allows high resolution mapping of fragments that are separated by 2–3 kb and up to 700 kb (see Chapter 5). Anultrasound of her uterus identifies an enlarged and poorly organized placenta. Single-stranded conformational polymorphism (SSCP) E. fractionating the fragments by size using gelelectrophoresis. There is ofen an absence of midline facial formation. which in severe cases may result in the formation of a single. This is a description of which of the followingtechniques? A. are thought to arise by fertilization of an empty egg (lacking any chromosomes) by either two sperm or by a sperm that undergoes replication of its chromosomesbefore fertilization (see Chapter 6). 46 chromosomes. DNA microarray analysis This is an example of a Southern blot (see Chapter 4). Holoprosencephaly E. Southern blotting C. 46chromosomes. Fluorescence in-situ hybridization (FISH) C. transferring them to a nitrocellulose filter and hybridizing the filter with a radioactively labeled nucleic acid probe for theregion of interest. the incomplete separation of the developing brain into distinct hemispheres and ventricles. Question 5 . Question 2 Cytological mapping techniques allow a geneto be physically assigned to a chromosome or chromosome region. A complete hydatidiform mole is diagnosed. Synpolydactyly D. Hirschsprung disease SHH mutations lead toholoprosencephaly. Question 4 A 34-year-old woman is 10 weeks pregnant. all of paternal origin Complete hydatidiform moles have 46 chromosomes. Ulnar-mammary syndrome B.This same mutation was transmitted to Sarah. Based on this result. leading to a very low level of factor XIII being produced and the clinical features of hemophilia A (see Chapter 7).what can you conclude about the location of marker D18S452 relative to the causative gene under study? A. This type of choice. In this case. Each always knew they would onlymarry someone who also had achondroplasia. The researchers coordinating the study report that for the polymorphic marker D18S452. Based upon these findings. The mutationon the maternal X chromosome is a dominant negative. given a recombination fraction of 0. Assortative mating E. Karyotype analysis of Sarah is unremarkable. Skewed Xinactivation in Sarah C. Mutation analysis of the family’s factor XIII genes identifies a nonsense mutation in one of the two copies of the gene in Sarah’s mother. Neither her mothernor her father has hemophilia. is an example of which of the following? A. causing a gain of function that leads to hemophilia. but is otherwise clinically normal. Multiple studies of a

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Term
Winter
Professor
N/A
Tags
DNA, Mutation, Test, Genetic disorder

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