Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled...

Area of Science:

• Genomics
• Molecular Biology
• Human Genetics

Background:

• Expressed sequence tags (ESTs) are valuable for gene discovery and analysis.
• Identifying variations within coding sequences is crucial for understanding human genetic diversity.
• Previous methods for large-scale SNP discovery in coding regions have limitations.

Purpose of the Study:

• To identify and characterize single nucleotide polymorphisms (SNPs) within the coding sequences (cSNPs) of human genes.
• To assess the utility of assembled expressed sequence tags (ESTs) from multiple cDNA libraries as a resource for cSNP discovery.
• To estimate the nucleotide diversity within human coding regions.

Main Methods:

• Assembled expressed sequence tags (ESTs) from 50 diverse human cDNA libraries were used to identify complete coding sequences of 850 known genes.
• These coding sequences were scanned for high-quality sequence substitutions indicative of SNPs.
• Candidate cSNPs were identified and characterized in 165 genes.

Main Results:

• A total of 201 candidate cSNPs were identified in the coding sequences of 165 human genes.
• The analysis revealed a coding region nucleotide diversity of approximately 3 differences per 10,000 base pairs.
• This dataset provides a significant number of novel cSNPs for further genetic studies.

Conclusions:

• Assembled ESTs from multiple cDNA libraries represent a rich and efficient source for discovering coding single nucleotide polymorphisms (cSNPs) in the human genome.
• The identified cSNPs contribute to a better understanding of human genetic variation and diversity.
• This approach offers a cost-effective strategy for large-scale SNP discovery in coding regions.