Human genome and medical btech mid term

Human Genome & Medical Biotechnology Mid-term Exam Discussion

Genetic Markers

  • Genetic markers are not always located within the affected gene; they can be outside the gene as well. (False)

Phenotype vs. Genotype

  • Phenotype refers to the observable characteristics of an individual, which are determined by both genotype and environmental factors. (True)

Hemophilia Inheritance

  • A father with hemophilia (X-linked recessive) cannot pass the affected X chromosome to his son (0% chance).

Monoclonal Antibodies

  • Monoclonal antibodies are now considered a viable therapeutic modality for infections caused by pathogens, including viral diseases like Ebola and Cytomegalovirus. (True)

Recombinant Human Growth Factor

  • The production of recombinant human growth factor is derived from cDNA from human mRNA. (True)

Epigenetic Changes

  • Epigenetic changes occur in DNA frequency, affecting gene expression and structure.

  • DNA technology has advanced to synthesize mRNA to treat hemoglobin disorders related to blood clotting factors. (False)

Thalassemia Discussion

True Statements about Thalassemia

  • Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin.

  • It can be detected through a complete blood count, contrary to the misconception that it cannot. (False)

  • Bone marrow transplantation may be a treatment option. (True)

Structural Polymorphisms in Genome Analysis

  • Possible structural polymorphisms include:

    • Deletion

    • Duplication

    • Inversion

    • Translocation

  • Crossover changes can also be significant.

Human Genome Project Insights

  • Genetic similarity among humans is approximately 99.97%.

  • About 1-2% of the genome accounts for protein encoding; the majority is non-coding.

Genome-Wide Association Studies (GWAS)

  • GWAS helps identify single nucleotide polymorphisms (SNPs) associated with diseases by comparing populations with and without conditions. (True)

Inheritance Patterns & Genetic Disorders

Hemophilia Inheritance Pattern

  • Hemophilia is characterized by X-linked, recessive inheritance patterns. (True)

Familial Hypercholesterolemia (FH)

  • Familial hypercholesterolemia is a genetic condition observed in families; it is inherited in an autosomal dominant manner. (True)

Proteomics

  • Proteomics involves large-scale analysis of proteins, enabling the identification of protein entries by organism/system.

DNA Polymorphism

  • DNA polymorphisms can be significant, and polymorphisms exist in single bases, which may show phenotypic effects. (False)

Fluorescence In Situ Hybridization (FISH)

  • FISH is a powerful molecular cytogenetic technique using fluorescently labeled probes to detect particular DNA segments. (True)

Genetic Mapping & Health Conditions

Genetic Markers in Mitochondrial DNA

  • Genetic markers on mitochondrial DNA and the Y chromosome help map human migration patterns. (True)

Hemochromatosis

  • Hemochromatosis refers to harmful levels of iron accumulating in the body.

Epigenetic Changes

  • Epigenetic changes occurring in germ lines can be transmitted across generations.

Polycystic Kidney Disease (PKD)

  • Polycystic kidney disease is an inherited autosomal dominant disorder causing the kidneys to enlarge and lose function over time.

Pharmacogenomics

  • Pharmacogenomics utilizes genetic and protein coding information to design and improve medications.

Vaccine Discussion

Men B Vaccine

  • The Men B vaccine protects against meningococcal group B bacteria.

  • It is made from attenuated bacteria and is aimed at generating antibodies against multiple strains.

Diabetes and Genetics

  • Diabetes is a metabolic disorder with a significant environmental component. (False)

Human Genome Project Insights

Significance of Human Genome Project

  • The Human Genome Project has significant implications for understanding human genes and their functions.

  • It aimed to determine the complete human genome, which is approximately 3.2 billion base pairs.

Inheritance Patterns of Huntington's Disease

  • Each child of an individual with Huntington's disease has a 50% chance of inheriting the condition due to its autosomal dominant nature. (True)

Hemophilia Overview

  • Hemophilia is an inherited bleeding disorder caused by a lack of Factor VIII.

Additional Genetic Insights

DNA Methylation

  • DNA methylation is performed by methyltransferases, which affect gene expression.

Organism with the Largest Genome Size

  • The Coast Red Wood tree has one of the largest genome sizes.

Flow Cytometry

  • Flow cytometry is a technique that recognizes fluorescent antibodies attached to specific proteins in cells for analysis.

Expression Sequence Tag (EST)

  • The EST method was used in the Human Genome Project to identify expressed genomes.