Related Experiment Video
Updated: Jul 6, 2026
08:48
High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization
Published on: June 28, 2012
The human genome project: genetic and physical mapping.
1Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
Trends in Endocrinology and Metabolism: TEM
|November 1, 1994
Summary
Recombinant DNA technology allows gene isolation for studying function and disease roles. This knowledge advances medical diagnostics and therapeutics for genetic conditions.
Area of Science:
- Molecular Biology
- Genomics
- Medical Genetics
Background:
- Modern molecular biology tools, including recombinant DNA techniques, enable the isolation and study of individual genes from complex eukaryotic genomes.
- Understanding gene structure, biologic function, and roles in normal and abnormal physiology is crucial for medical advancement.
Purpose of the Study:
- To highlight the impact of gene isolation techniques on biological and medical research.
- To discuss the implications of the ongoing human genome project for medicine.
Main Methods:
- Utilizing recombinant DNA technology for gene isolation and characterization.
- Analyzing gene sequences, regulation, and interactions within the human genome.
Main Results:
- Genes can now be isolated and studied in detail, revealing their structure and function.
- The human genome project is generating comprehensive data on gene location, sequence, and regulation.
Conclusions:
- The ability to study individual genes is transforming our understanding of biology and disease.
- Advances in genomics will accelerate the development of diagnostic tests and novel therapeutics for genetic diseases.
Related Concept Videos
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
03:36Genome Annotation and Assembly
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
00:58Genomic DNA in Eukaryotes
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.