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Recent DNA studies only scratch the surface of complex Pinoy genetics


DNA—or deoxyribonucleic acid—is not just the double-helical structure that codes genetic traits. It is also the repository of the biological history of a species.

Population-based genetic studies, for instance, have provided evidence that many Filipino groups share a genetic ancestry with the aborigines of Australia, from whom they may have been separated by the Austronesian expansion.

Research using DNA sequences of different individuals also show that Filipinos from over 100 ethno-linguistic groups spread across 18 regions of the Philippines are genetically distant from each other and from people in their regions' city centers.

However, the same data showed scientists that people from city centers, regardless of which region they come from, are genetically close to each other.

The data, acquired from studying parts of our genetic code, only scratches the genetic surface of a very complicated population.

Imagine what secrets we could uncover by sequencing complete sets of DNA.

The suggestion: A Filipino genome diversity project

Filipino geneticist, evolutionary biologist, and New York University Dean of Science Dr. Michael Purugganan suggested a Filipino Genome Diversity Project that would sequence complete sets of Filipino genomes to acquire more data about our history and health.

We’d learn a lot about our origins and our genetic relations by sequencing 10 genomes from different Filipinos in the country, he said.

At present, a database of genetic information from several individuals already exists, but an entire genome, that is, a complete set of genetic code, has yet to be sequenced.

More than a decade ago, sequencing a single person's genome cost about 100 million US dollars and approximately three years to complete.

Now, with the new technology available, the same process can be done in seven days while only costing $10,000, said Purugganan in a lecture he gave at the National Museum of the Philippines.

This project might soon become a reality, but not quite yet.

The future of genome research in the Philippines

“Immediate work will not involve entire genome sequencing of a few individuals,” said Frederick Delfin, university research associate at the DNA Analysis Laboratory in the University of the Philippines Diliman.

Aside from being more cost-effective, population-based, genome-wide data is necessary for choosing which individuals’ genomes are to be sequenced for a more in-depth analysis.

“Only by first surveying the genetic variation among different Filipino populations can we reliably choose the few individuals [for complete genome sequencing] who can be representatives of Filipino genetic history and those whose genomes can be used in medical studies,” Delfin said.

The Forensics and Ethnicity Program of the Philippine Genome Center, headed by Dr. Maria Corazon de Ungria, is currently preparing for the resubmission of a proposal for the funding of a study to perform population-based studies, and eventually, complete genomic studies.

An earlier version of the proposal has gone through preliminary review by the Philippine Council for Health Research and Development (PCHRD) of the Department of Science and Technology (DOST).

It aims to first, expand the genetic databases housed in the DNA Analysis Laboratory of the Natural Sciences Research Institute (NSRI) in UP.

They plan to collect DNA samples of over 2,500 Filipino volunteers – some regional and some ethno-linguistic.
 
All DNA samples will be analyzed using mitochondrial DNA, Y-chromosome, and autosomal short tandem repeats (aSTRs) which are for forensic and population genetics applications, Delfin said.
 
Meanwhile, 400 to 500 DNA samples will be analyzed using autosomal single nucleotide polymorphism (aSNP) data is what will be used in genome scans.
 
“There will about 2.5 million aSNPs (2.5 million genetic markers) to be used,” Delfin said, “Which is a better, genome-wide representation of Filipino genomes. Hence, we only need a smaller sample size.” 
 
“We intend to resubmit our proposal within the year, while simultaneously addressing research ethics review and seeking partnerships with the National Commission on Indigenous Peoples (NCIP), the possible ethno-linguistic group participants, the relevant government and non-government agencies, etc.,” Delfin said.

In the same study, they also aim to do targeted DNA profiling of genetic markers such as those prescribed by the US FBI CODIS (Combined DNA Identification System) – markers that can be used to improve forensic investigation in the Philippines.

Finally, whole genome sequencing will also be done with some samples, de Ungria said.

However, Delfin notes that several factors must be considered if we want to use these genome sequences to discover more about Filipino history.

“Who would these 10 individuals be and from which Filipino group would they come from?” he asked. “The 10 individuals must be representative of and must have the genetic signals of such Filipino genetic history.”

The same goes with sequencing entire genome sequences to address medical and health-related matters.

“Individuals whose complete genomes are representative of Filipino history may not necessarily be the same individuals whose genomes are useful in medical and health studies,” Delfin explained.

Projects underway: Jose Rizal DNA reconstruction and more

While working on the proposal for the funding of this project, several other studies involving DNA sequences are already underway.

One of them is a two-year endeavor that means to study Jose Rizal’s genealogy and genetic ancestry by reconstructing his DNA.

Samples of DNA from Rizal’s family will be tested in the process.

“We have the first part of the determination of the Rizal maternal lineage finished,” De Ungria said.

“We are now summarizing our data for presentation to the volunteers and the Rizal family.”

More details will be provided after they have finished the project.

Two three-year studies are also underway: one on forensic DNA analysis procedures for the identification of human remains, and the other on the variations of Filipinos’ Y chromosomal DNA – the part of the DNA that is passed from father to son.

Another on-going project is a study of the Mindoro Island’s biodiversity and ancient environmental factors.

Its aim is to pave way for scientists to “understand the interrelationship of the ethno-linguistic groups in Mindoro of the present and to correlate this with the work of archaeologists.”

“Note that this is only a microcosm of what we want to cover, which is the entire Philippine archipelago,” De Ungria said. — BM/KDM, GMA News