Name of Abnormality 1. Metafemale syndrome 2. Wolf- hirschhorn syndrome 3. Klinefelter Syndrome 4. Pallister- Killian syndrome 5. Isodicentic 15 syndrome 6. Cat eye syndrome 7. Down syndrome 8. Turner syndrome 9. Jacob Syndrome 10. Edward Syndrome Chromosomal Abnormalities Classification Affected of abnormality Number of autosomes and sex chromosomes 44, XXX Number (Type) or Structure (Type)? Number (Trisomy) Chromosome /number Sex Chromosome/ # 23 Descriptions (At least 2 only) 1. Superfemale 2. Short and stocky

Name of Abnormality 1. Metafemale syndrome 2. Wolf- hirschhorn syndrome 3. Klinefelter Syndrome 4. Pallister- Killian syndrome 5. Isodicentic 15 syndrome 6. Cat eye syndrome 7. Down syndrome 8. Turner syndrome 9. Jacob Syndrome 10. Edward Syndrome Chromosomal Abnormalities Classification Affected of abnormality Number of autosomes and sex chromosomes 44, XXX Number (Type) or Structure (Type)? Number (Trisomy) Chromosome /number Sex Chromosome/ # 23 Descriptions (At least 2 only) 1. Superfemale 2. Short and stocky

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 26QP: Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the...

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Like Hurler syndrome, Fabry disease involves an abnormal accumulationof substances within lysosomes. However, the lysosomesof individuals with Fabry disease show an abnormal accumulationof lipids. The defective enzyme is α-galactosidase A, which is alysosomal enzyme that functions in lipid metabolism. The enzymaticdefect causes cell damage, especially to the kidneys, heart,and eyes. The gene that encodes α-galactosidase A is found on theX chromosome. Let’s suppose a phenotypically unaffected coupleproduces two sons with Fabry disease and one phenotypicallyunaffected daughter. What is the probability that the daughter willhave an affected son?
A research paper published in the summer of 2012presented a method to obtain the whole-genome sequence of a fetus without any invasive procedure suchas amniocentesis that could on rare occasions causemiscarriage. This new technique is based on the factthat some fetal cells leak into the mother’s bloodstream and then break down, releasing their DNA.Assume that exactly 10% of the DNA fragments inthe mother’s blood serum come from the fetus, whilethe remaining 90% of the DNA fragments in the serum come from the mother’s genome.The investigators collected cell-free DNA from apregnant woman’s bloodstream and subjected it to anadvanced high-throughput sequencing method. Thetable at the end of this problem looks at seven unlinked loci; the number of reads of particular alleles(identified by Greek letters) are shown. You shouldassume for the sake of simplicity that all numericaldifferences are statistically significant (even thoughactual data are never this clean).a. Determine whether each…
The family of a sixth-grade boy in Palo Alto, California, wasinformed by school administrators that he would have to transferout of his middle school because they believed his mutation ofthe CFTR gene, which does not produce any symptoms associatedwith cystic fibrosis, posed a risk to other students at the schoolwho have cystic fibrosis. After missing 11 days of school, a settlementwas reached to have the boy return to school. What ethicalproblems might you associate with this example?
I. The retinoic acid receptor (RAR) is a transcription factor that is similar to steroid hormone receptors. Thesubstance (ligand) that binds to this receptor is retinoicacid. One of the genes whose transcription is activatedby retinoic acid binding to the receptor is myoD. Thediagram that follows shows a schematic view of theRAR proteins produced by genes into which one oftwo different 12-base double-stranded oligonucleotides had been inserted in the ORF. The insertion site(a–m) associated with each mutant protein is indicatedwith the appropriate letter on the polypeptide map.For constructs encoding proteins a–e, oligonucleotide 1(5′ TTAATTAATTAA 3′ read off either strand) wasinserted into the RAR gene. For constructs encoding proteins f–m, oligonucleotide 2 (5′ CCGGCCGGCCGG 3′)was inserted into the gene.NH2 f g h i j k l m COOHa b c d eThe wild-type RAR protein can both bind DNA and activate transcription weakly in the absence of retinoic acid(RA) and strongly in RA’s presence. Each…
Primary efecd al Increase the offmity of R NA pelymerase buding to a promrter, b) facilitate recombiraton doning ) Rovide prostectio.. agamst mtogratrien of lysogamic dl Generate of transposens? me iesis, ViYUses - mututions and chromosomal rearrargenments. el Conduct ONA reglication proofreadng àl Antibotics to freat infectons caused by facu Hontive bactenia athactve anaerabic homans, the teryets which would in be most shibiters of bacteriai are a) electon transgort. bl MRNA splicng ) hansciphion dl poly -A addion for MRNAS- e Nine of the abouer ) Which is a cheractenstic of eu Korgetic peten syntheni> polycistremic acid tans lated is formyl-methionme. a) {ukuryotic mRNA is bl The frst amino c) 'The MRNA most be polyadenglated atthe 3l end before trenslahion dl Er Karystia transcnphion e) Tansemphion and tenslation reguires single RNA polymenm Bccure duay as t t ig) If the alkle cousing sickle cell i> present at a amemia fres wancy of o.05 certain lorge, rendomly-mating in…
ala Marked out of 1 Select one: OA. A Tissue Sample of Unknown Organism OB. B OC C D. D d. b. Mitosis must be carefully regulated to ensure the normal distribution of chromosomes to the daughter cells. A ring-shaped protein molecule known as cohesin attaches to the centromere of a chromosome and holds sister chromatids together to prevent their premature separation. Enzymes detach cohesin molecules from the centromere immediately before the sister chromatids segregate. -based on Nature, 2006 In which of the cells labelled in the diagram above are enzymes most likely acting to detach cohesin molecules from the centromere? Megee, Paul, 2006. Chromosome guardians on duty. Nature 441, no. 7089 (May 4): 35-36.
10- 00 O SCNSA-SCN10A CDKN1A HANDI VTI1A SYTI • MYOCD 9 10 11 12 13 14 15 16 17 18 19 20 2122 X Y
When the DNA of a human cell becomes damaged, the p53 geneis activated. What is the general function of the p53 protein?Is it an enzyme, transcription factor, cell-cycle protein, orsomething else? Describe three ways in which the synthesisof the p53 protein affects cellular function. Why is it beneficialfor these three things to happen when a cell’s DNA hasbeen damaged?
6. Suppose a particular gene is required for early development and also later for development of a particulartissue, such as the adult nervous system. By generating a homozygous mutant clone in that tissue of a heterozygote, researchers can circumvent the lethalitythat would result if the entire animal is homozygousfor a loss-of-function mutation in that gene.A technique called MARCM (Mosaic Analysiswith a Repressible Cell Marker) was developed to enable Drosophila geneticists to generate homozygousmutant cell clones that are marked by the presence of areporter protein such as GFP. Marker expression enables the investigator to observe clearly the mutantphenotype within a clone of mutant cells. This technique relies on a yeast protein called Gal80 that is anegative regulator of the Gal4 protein described previously in Solved Problem II. Gal80 binds to Gal4 andprevents it from activating transcription. The idea ofMARCM is that Gal4/UASG-driven GFP expression isblocked by Gal80 throughout…
Cornelia de Lange syndrome (CdLS) is a rare humandisease caused by a dominant loss-of-function mutation in any one of at least five different genes, all ofwhich encode components or regulators of the cohesin protein complex. People with CdLS have a widerange of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomalmis-segregation during cell division, their abnormalphenotype is likely due to widespread mis-regulationof gene expression during development. Cohesin mayplay a role in organizing chromatin loops necessaryfor proper regulation of transcription. (You will learnmore about this topic in Chapter 17.)a. In different families, CdLS can show an autosomaldominant or X-linked dominant inheritance pattern. How is this possible?b. Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to itswild-type counterpart.c. CdLS is usually caused by new mutation in oneparent’s…
Pod Shape Cross 4. Refer to the diagram to the right to answer the following question. What is the genotype of the F1 generation? P1 A. PP Inflated constricted В. Рр С. pp 111 D. P all inflated 3 inflated; 1 constricted 5. The typical human body cell contains 46 chromosomes. How many chromosomes are found in a typical human e Education TM, Inc.
Researchers have identified a gene in humans that (when mutant)causes severe dwarfism and mental impairment. This disorder isinherited in an autosomal recessive manner, and the mutant alleleis known to be a loss-of-function mutation. The same gene hasbeen found in mice, although a mutant version of the gene has notbeen discovered in mice. To develop drugs and an effective therapyto treat this disorder in humans, it would be experimentallyuseful to have a mouse model. In other words, it would be desirableto develop a strain of mice that carry the mutant allele in thehomozygous condition. Experimentally, how would you developsuch a strain?