Suppose you are a lab technician who is responsible for diagnostic analysis of individual hemoglobinopathy cases. You have identified the mutations in each individual as outlined in the list of cases below. You will need to develop the appropriate techniques to identify these mutations in their family members, predict how these mutations affect gene expression and confirm the prediction with proper molecular techniques. For each case, please decide which thalassemia the individual has and what level of gene expression should be affected. Refer to the book when necessary. 1. A Hispanic individual has a mutated allele with a deletion in the locus control region (LCR). This region contains an enhancer necessary for the transcription of its downstream genes (B, 8, y). He is homozygous for this allele and has no mutation anywhere else in the genome. 10 kb Normal |Hispanic εγδβ- thalassemia 10 kb 54 3 21 ↓↓ ↓↓↓ E LCR + Deletion.. E Gy Ay + Gy Ay + ψβ ψβ + 8 + SE B 8 B + + Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com

Suppose you are a lab technician who is responsible for diagnostic analysis of individual hemoglobinopathy cases. You have identified the mutations in each individual as outlined in the list of cases below. You will need to develop the appropriate techniques to identify these mutations in their family members, predict how these mutations affect gene expression and confirm the prediction with proper molecular techniques. For each case, please decide which thalassemia the individual has and what level of gene expression should be affected. Refer to the book when necessary. 1. A Hispanic individual has a mutated allele with a deletion in the locus control region (LCR). This region contains an enhancer necessary for the transcription of its downstream genes (B, 8, y). He is homozygous for this allele and has no mutation anywhere else in the genome. 10 kb Normal |Hispanic εγδβ- thalassemia 10 kb 54 3 21 ↓↓ ↓↓↓ E LCR + Deletion.. E Gy Ay + Gy Ay + ψβ ψβ + 8 + SE B 8 B + + Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com

Biology Today and Tomorrow without Physiology (MindTap Course List)

5th Edition

ISBN:9781305117396

Author:Cecie Starr, Christine Evers, Lisa Starr

Publisher:Cecie Starr, Christine Evers, Lisa Starr

Chapter10: Biotechnology

Section: Chapter Questions

Problem 4DID

See similar textbooks

Similar questions

Glioblastoma multiforme (GBM) is the most commonand aggressive form of brain cancer in humans.Without any treatment, the mean survival rate is aboutthree months. Even with standard treatments such assurgical resection, radiation, and chemotherapy, themean survival rate is between seven and 14 months.GBM tumors differ in their spectrum of geneticchanges, and these changes may influence the effectof particular treatments. Answer the following questions about the relevance of particular mutations toparticular treatments and outcomes.a. Biopsies of about 20% of GBMs show the expression of a certain mutational variant of the EGFR(epidermal growth factor receptor) protein calledEGFRvIII. The same cancerous cells of theseGBMs also show the expression of normal, wildtype EGFR. Is the gene encoding EGFR a tumorsuppressor gene or a proto-oncogene?b. It is very difficult to induce cells expressingEGFRvIII to undergo apoptosis. If you werea radiologist treating a patient with a GBMthat expresses…
Gene Expression and the Impact of a Mutation. Can someone help me to answer the question 8 and 9, please? 8. How has the mutation altered the polypeptide? Is the function of the hemoglobin molecule (which includes 2 ẞ-globin polypeptides and 2 a-globin polypeptides) impaired? (Read your book to learn more about sickle cell disease.) 9. What is the relationship between the genotype in this case and the individual's phenotype? asap please
Silent mutations that occur in DNA are quite common in living cells and usually involve no effects onphenotype. 3: Provide one example of a clinical implication of a “silent mutation” that proven to have an effect onthe phenotype and provide a brief description of its molecular characteristics?
Hi, can you please explain the clinical significance of G protein mutations.
can you please help me out with this ? Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). Nonsense mutation in a coding region Insertion in Exon 1, causing frameshift Insertion in Exon 7, causing frameshift Missense mutation Deletion in Exon 2, causing frameshift Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3
ABOUT Phenylketonuria Explain Potential technical issues and limitations of PCR technology are mentioned Correct information about tissue that can be used to test for a genetic disease and justification of tissue selection Detailed information about the position (exact base pair number) of the new mutation relative to the sequence of the PAH gene. Numbering is based on the start of transcription of the PAH gene. PLEASE ANSWER ALLLL PLEASEE
expand this into 1000 words for a conclusion of a report. context is that the title is Identification of Differentially Expressed Genes in Breast Cancer Using RNA-Seq. Also STATE THAT THE RESULT SUPPORT THE HYPOTHESIS. "In conclusion, the RNA-Seq analysis has identified several genes that are differentially expressed in breast cancer. These genes may play important roles in the development and progression of breast cancer and could potentially serve as targets for therapeutic intervention. The comparison underscores the complex interplay between TONSL expression and gene regulation, highlighting distinct gene expression profiles in primary cells versus TONSL-overexpressing cells. These findings provide valuable insights into the regulatory roles of TONSL and its potential implications for cellular physiology and disease mechanisms. Understanding the differences in gene expression dynamics between primary cells and TONSL-overexpressing cells is crucial for elucidating the molecular…
True or false? The most common form of Down's Syndrome results from a spontaneous, somatic, gene mutation.
MSH2 is a gene commonly associated with HNPCC (Hereditary nonpolyposis colorectal cancer). This gene encodes a protein that is involved in mismatch repair. Why are individuals who are heterozygous for the deletion mutation of MSH2 gene (MSH2+/MSH2-) from birth are very likely to develop colon cancer very early in their lives?
Although it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?
Li- Fraumeni Syndrome (LFS) is a rare hereditary cancer disease due to a mutation in the TP53 gene. Propose a treatment strategy for LFS.
What is the definition of Driver Mutations & Passenger Mutations? Also describe why each are informative in characterizing tumors.