Related Experiment Video
Updated: Aug 15, 2026
12:47
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p
A Matsutani1, R Janssen, H Donis-Keller
1Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
Genomics
|February 1, 1992
Summary
A novel dinucleotide repeat marker near the human glucokinase gene (GCK) was identified and characterized. This genetic marker, located on chromosome 7p, can aid in studying diabetes and other genetic disorders.
Area of Science:
- Genetics
- Molecular Biology
Background:
- A dinucleotide repeat element was identified 3' to the human glucokinase gene (GCK).
- Genomic sequencing revealed polymorphism due to variable CT and CA repeats.
Purpose of the Study:
- To characterize a novel dinucleotide repeat polymorphism near the human glucokinase gene.
- To establish this polymorphism as a genetic marker for association and linkage studies.
Main Methods:
- Bacteriophage lambda chromosome walk and direct human genomic sequencing.
- Polymerase Chain Reaction (PCR) amplification and polyacrylamide gel electrophoresis.
- Somatic cell hybrid panel analysis for physical mapping.
Main Results:
- Six alleles of the dinucleotide repeat were identified, with varying frequencies across populations (American Blacks, Pima Indians, Caucasians).
- Observed heterozygosity was 44% with a PIC of 0.44.
- The glucokinase gene was physically mapped to chromosome 7, and genetically localized to 7p between TCRG and D7S57.
Conclusions:
- The identified dinucleotide repeat serves as a valuable genetic marker for the human glucokinase gene.
- This marker can be utilized in population association studies for diabetes and linkage studies for related disorders.
More Related Videos
Related Concept Videos
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...
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:25cAMP-dependent Protein Kinase Pathways
Cyclic Adenosine Monophosphate (cAMP) is an essential second messenger that activates protein kinase A (PKA) and regulates various biological processes. A single epinephrine molecule binds to GPCR and activates several heterotrimeric G proteins, each stimulating multiple adenylyl cyclase, amplifying the signal, and synthesizing large numbers of cAMP molecules. Small changes in cAMP concentration affect PKA activity. The binding of four cAMP molecules induces a conformational change in PKA,...