一種具有20000種非同義單核苷酸多態(tài)性（SNPs）的檢測(cè)面板現(xiàn)在可以用于人類(lèi)基因分型的研究。

這種檢測(cè)面板由美國(guó)ParAllele基因分型服務(wù)公司提供，以前只有10000種SNPs。這次擴(kuò)大的編碼SNP面板代表了能夠編碼氨基酸變化的SNPs基因，而據(jù)信這對(duì)基因型會(huì)產(chǎn)生最大的影響。這種面板是使用了該公司的分子倒位探針來(lái)研制開(kāi)發(fā)的，將產(chǎn)生高水平多元化改變，而這對(duì)基因分型是必不可少的。這種最新面板還包括那些從ParAllele中經(jīng)過(guò)篩選的超過(guò)25000種以前未經(jīng)證實(shí)的SNPs。最終的經(jīng)過(guò)選擇的擴(kuò)大SNP面板，能夠從3個(gè)種族人群超過(guò)8百萬(wàn)基因型的300個(gè)個(gè)體進(jìn)行基因分型。

ParAllele的研究主任、共同創(chuàng)始人Malek Farhem博士說(shuō)：“這種擴(kuò)大至20000種完全證實(shí)的非同義SNPs，不僅是一種符合成本/效益比的途徑，能夠進(jìn)行完整的基因分析，而且具有具有極高的決定性意義，因?yàn)槲覀冞x擇用于這種測(cè)試面板的SNPs是那些與功能性反應(yīng)最相關(guān)的?！?/P>

該公司的產(chǎn)品與服務(wù)使用那些具有決定性意義生化過(guò)程的多元化途徑，而不是復(fù)雜的設(shè)備去發(fā)現(xiàn)分析的人類(lèi)基因組變化。
 
Increased Assay Panel of SNPs
 
An assay panel with 20,000 non-synonymous single nucleotide polymorphisms (SNPs) is now available for use in human genotyping studies.

The assay panel, from ParAllele Genotyping Services (So. San Francisco, CA, USA), formerly had only 10,000 SNPs. This enlarged coding SNP panel represents genes with SNPs that code for amino acid changes, which are those believed to have the biggest impact on phenotype. The panel was developed by using the company’s molecular inversion probes, which result in extremely high levels of multiplexing, essential for genotyping demands. This latest panel also includes some of those selected by ParAllele from > 25,000 previously unvalidated SNPS. The final SNP panel selection for the enlarged panel was achieved by genotyping around 300 individuals from three ethnic populations accounting for > 8 million genotypes.

“This panel enlarged to 20,000 fully validated non-synonymous SNPs not only represents a cost-effective way of achieving whole genome analysis but has the potential of an extremely high payoff, since the SNPs that we have selected for this assay panel represent those most likely to be associated with a functional response,” said Malek Farhem, M.D., Ph.D., co-founder and director of research at ParAllele.

The company’s products and services utilize a multiplexed approach that leverages novel biochemical processes rather than complex instrumentation to discover and analyze minute variations in the human genome.