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Published on: December 10, 2012
From long range mapping to sequence-ready contigs on human chromosome 6.
A J Mungall1, S J Humphray, S A Ranby
1The Sanger Centre, Hinxton, Cambridge, UK.
DNA Sequence : the Journal of DNA Sequencing and Mapping
|January 1, 1997
Summary
Researchers are building detailed physical maps of human chromosome 6 using radiation hybrid (RH) mapping to sequence the entire chromosome. This involves creating a high-density marker map and assembling bacterial clones into contigs for DNA sequencing.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Chromosome 6 contains numerous genes crucial for human health.
- Previous mapping efforts left significant regions of chromosome 6 uncharacterized.
- A comprehensive physical map is essential for understanding chromosome 6 structure and function.
Purpose of the Study:
- To construct high-resolution physical clone maps for under-mapped regions of chromosome 6.
- To generate a complete DNA sequence of human chromosome 6.
- To facilitate future research into chromosome 6-associated diseases.
Main Methods:
- Radiation hybrid (RH) mapping to establish a framework map with 15 markers per Megabase.
- Identification of large-insert bacterial clones covering chromosome 6.
- Assembly of clones into sequence-ready contigs using restriction enzyme fingerprinting and STS content analysis.
- Gap closure via walking experiments using end-sequence derived STSs.
Main Results:
- Development of a high-density framework map for previously unmapped chromosome 6 regions.
- Assembly of overlapping bacterial clones into contiguous sequences (contigs).
- Identification of sequence-tagged sites (STSs) for gap closure and map refinement.
Conclusions:
- The established physical map provides a foundation for the complete DNA sequencing of chromosome 6.
- This work significantly advances the understanding of chromosome 6 organization.
- The generated resources will accelerate research in human genetics and disease.
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