When considering the cause of the disease in a patient who is the child of an inbred couple, it was found that 4 enzymes in thelysosome were inactivated. When comparing the amino acid sequences of these four enzymes with the wild-type enzyme, nodifference was found in the number and arrangement of amino acids. Given mutations that may be the cause of the patient's diseaseabove.

1. The given situation describes a child, born to an inbred couple, who is suffering from a…

Answered: When considering the cause of the…

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

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Similar questions

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) using conventional karyotyping? If not then why. How will you diagnose a chromosomal translocation event?
Leber Congenital Amaurosis (LCA) causes progressive vision loss due to defects in the gene that encodes RPE65 isomerase. Affected individuals are homozygous recessive for mutant alleles of the RPE65 gene. You are trying to determine the molecular nature of the mutations in three individuals with LCA. For ease of analysis, you may assume that each individual is homozygous for the same mutant allele (though the three individuals have different mutations than each other). You use the polymerase chain reaction to amplify DNA from each patient and you determine the sequence of the DNA and compare it to unaffected individuals. You identify the following differences. Note that the non-template strand of DNA is given and the changes are highlighted using red boldface. You can assume that the sequences are in the first reading frame (eg. the first three nucleotides of each sequence is a codon). The coding region of the gene is 1602 bp and the position of the sequences shown below is…
A cystic-fibrosis mutation in a certain pedigree is due toa single nucleotide-pair change. This change destroys anEcoRI restriction site normally found in this position.How would you use this information in counseling members of this family about their likelihood of being carriers? State the precise experiments needed. Assume thatyou find that a woman in this family is a carrier, and ittranspires that she is married to an unrelated man whoalso is a heterozygote for cystic fibrosis, but, in his case, itis a different mutation in the same gene. How would youcounsel this couple about the risks of a child’s having cystic fibrosis?
3) You have identified an interesting mutant in gene P. Using a Punnett square, demonstrate the cross you perform to determine if it is a dominant or recessive mutation compared to the WT gene P allele. Write the expected ratios for either scenario. 4) You have determined the mutation is dominant when compared to the WT allele. Briefly describe a technique you could use to determine if expression levels of gene P have been altered in this mutant. 5) You have determined the expression level of gene P has increased. What class/type of mutation would cause this?
this is what i have said about this image so far, what else can be said aswell including the raw count column. " Interpreting the results of an RNA-Seq analysis is pivotal in understanding the underlying genetic mechanisms of diseases such as breast cancer. In this analysis, Figure 1 provides comprehensive data on differentially expressed genes associated with breast cancer. By delving into the provided information, we can gain valuable insights into the molecular landscape of this disease. First focus is on the gene with the highest fold change, EYA4, situated on chromosome 6. With a staggering fold change of 3604.4176, EYA4 exhibits an unprecedented level of overexpression in cancerous cells compared to normal cells. This profound alteration suggests a pivotal role for EYA4 in breast cancer pathogenesis. The log2 fold change of 11.81555 further emphasizes the magnitude of this difference in gene expression. Statistical significance is evident, with an exceptionally low p-value of…
A yeast geneticist irradiates haploid cells of a strain thatis an adenine-requiring auxotrophic mutant, caused bymutation of the gene ade1. Millions of the irradiatedcells are plated on minimal medium, and a small number of cells divide and produce prototrophic colonies.These colonies are crossed individually with a wildtype strain. Two types of results are obtained:(1) prototroph × wild type : progeny all prototrophic(2) prototroph × wild type : progeny 75% prototrophic,25% adenine-requiring auxotrophsa. Explain the difference between these two types ofresults.b. Write the genotypes of the prototrophs in each case.c. What progeny phenotypes and ratios do you predictfrom crossing a prototroph of type 2 by the original ade1auxotroph?
In McCune-Albright syndrome, fibrous connective tissue replaces bone, tan patches (café-au-lait spots) dot the skin, and hormone abnormalities cause early puberty and malfunction of the thyroid, pituitary, and adrenal glands. The phenotype is highly variable, and all patients are somatic mosaics for the mutation, which is in the gene GNAS1. Why is the condition seen only in mosaics?
The genetic alteration responsible for sickle-cell anemia in humans involves: a transition mutation from A to G, substituting glutamic acid for valine in a-globin a transversion mutation from T to A, substituting valine for glutamic acid in b-globin a transition mutation from T to C, substituting valine for glutamic acid in b-globin a transversion mutation from G to C, substituting glutamic acid for valine in a-globin a frameshift mutation of one ATC codon, removing glutamic acid from b-globin
People with a commonly occurring, wild type allele of PTC with two adjacent thymines at a particular site in the coding sequence are more prone to BCCs than people without this allele. How can this be explained (one sentence)? The "two adjacent thymines" allele of PTC causes a bigger increase in BCC risk for people xeroderma pigmentosum (XP), who lacks components of the nucleotide excision repair pathway, compared to people without XP. How can this be explained (one sentence)?
Please find the attachment
You learned in Problem 21 in Chapter 7 that theneurodegenerative disease ALS can be caused by expansion of a hexanucleotide repeat region (5′-GGGGCC-3′)outside of the open reading frame (but within the firstintron) of the gene called C9ORF72. While a normalC9ORF72 allele has 2–23 copies of the hexanucleotiderepeat unit, dominant disease-causing alleles have hundreds or even thousands of copies. Researchers observed that the first intron of theC9ORF72 disease allele is transcribed not only fromthe normal template strand of DNA, but also from thenontemplate strand. Even more unusual, both types ofrepeat-region transcripts are translated in all six readingframes in an AUG-independent manner—a processcalled repeat-associated non-ATG translation, or RANtranslation. These discoveries led to the hypothesisthat the proteins made from the repeats mightcontribute to ALS.a. What polypeptides are made from the repeat-regiontranscripts?b. According to the RAN translation hypothesis, whyare…
What is homologous recombination and where/when does it typically take place in an organism. Homologous recombination is also used experimentally during gene targeting. If you wanted to remove the function of the mouse gene fibroblast growth factor 4 (FGF4) using gene targeting by homologous recombination, what are the different aspects of a targeting vector you would need to make?

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