An SNP map of human chromosome 22.

Area of Science:

• Genomics
• Human Genetics
• Molecular Biology

Background:

• The human genome sequence serves as a reference for studying DNA sequence variation.
• Sequence variants, particularly single nucleotide polymorphisms (SNPs), contribute to individual genetic differences, influencing traits like disease susceptibility and drug response.
• A high-density map of SNPs is crucial for identifying genetic variations linked to specific characteristics.

Purpose of the Study:

• To evaluate large-scale sequencing methods for SNP discovery.
• To construct a high-density map of SNPs across the human genome.
• To facilitate association studies for identifying disease-related genetic variants.

Main Methods:

• Large-scale sequencing approaches were employed for SNP identification.
• A map of 2,730 SNPs was constructed for human chromosome 22.
• The SNP Consortium program scaled up SNP detection to over 65,000 across the genome.

Main Results:

• A map of 2,730 SNPs was generated for human chromosome 22, with most located near transcribed exons.
• Over 65,000 SNPs have been identified genome-wide as part of The SNP Consortium.
• The program aims to create a public SNP map with a density of 1 SNP per 5 kilobases, integrated with the human genome sequence.

Conclusions:

• The developed SNP maps are valuable resources for genetic association studies.
• Large-scale SNP discovery is feasible and progressing rapidly.
• The public availability of this SNP map will accelerate research into the genetic basis of human traits and diseases.