GENETIK July 2010 page 9

HUMAN VARN VN V IOME PROJECT AND LAUNCHING OF IOFOF T’S MALAYSIAN NODE; TOWARDWW S A

NEW HORIZON OF GOFOF ENETICS IN MALAYSIA.

ATAA IF AB1, HALIM-FIKRI AH2, ZILFALIL BLILLIL A1, 2*, 1MALAYSIA HUMAN GENOME VARIATION CONSORTIUM1 Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia.

2 Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.

*zilfalil@kb.usm.my

In the human genome, point variations are most common

(Nachman & Crowell, 2000) and well understood. These variations,

Single Nucleotide Polymorphism (SNP) and can fall in the coding

region of a gene, non coding region or intergenic regions.

These variations are the results of complex events occurring

during DNA replication prior to cell division. However, the

probability of occurrence for this variation is low at any given base

pair of the DNA and is remarkably consistent across eukaryotic

life forms about two errors per billion base-pair copying event

(Keightley & Eyre-Walker, 2000).

Alleles are the different variants at genetic loci and are the

cause of genetic variation in the phenotypes. Although the term

mutation is reserved for genetic variants with frequencies below

alleles come into existence originally as mutation events (Keller,

2006).

The collection of these variations in all genes from all countries

for all to use may appear ambitious. In fact collection has been

happening for some time on a small, disconnected and non-public

way. However, that data are not being systematically collected and

made available for use by clinicians and diagnosticians around the

world to assist in their clinics and in research.

Also, three studies found that the variation reports in the published

interest, activity and support for the collection and curation of

these data and making them freely available have been generated

by the initiation of this initiative under the banner of the Human

Variome Project (Editorial: Nat Genet 39(4):423).

THE HUMAN VARIOME PROJECT

The Human Variome Project (HVP) is conducting work in

the areas of ethics, education, data collection from clinics, data

collection from laboratories, data transfer & databasing (gene

of pathogenicity, publication, credit and incentives, developing

and emerging countries and worldwide collection, funding

mechanisms and governance, nomenclature and standards,

human genome variation and common diseases, translation

to healthcare and pilot projects. The HVP aims to collect, to

collate and curate mutations in all genes from all countries

and for all to use. The project is supported by world leaders in

human genetics from over 25 countries.

Malaysia is one of the members of the HVP. The Malaysia

Human Genome Variation Consortium has been established and

acts as the Malaysian node of the HVP. More information on the

HVP can be obtained from:

http://:www.humanvariomeproject.org/

LAUNCHING OF MALAYSIAN NODE OF HUMAN

VARIOME PROJECT

The Malaysian node of HVP is represented by the 1Malaysia

Human Genome Variation Consortium (1Mhgvc) which comprises

of 52 researchers from 11 Malaysian universities and institutes.

The project is headed by Associate Prof. Dr. Zilfalil Bin Alwi.The

launching of the Malaysian node of the Human Variome Project

was held on Oct 9th, 2010 at the Medical Faculty of Universiti

A/P Pillai N.V. who represented Professor Emeritus Dato’ Zakri

Abdul Hamid, the Science Advisor to the Prime Minister of

Malaysia.

The event was attended by 125 participants comprising of scientists,

researchers, medical doctors, paramedics, lawyers, postgraduate

students, members of Parent Support groups and interested

members of the public. The Genetics Society of Malaysia and the

Medical Genetics Society of Malaysia co-sponsored the event.

Professor Richard G Cotton from Melbourne, Australia, who is

also the head of the Human Variome Project delivered a lecture

on the HVP.

GENETIK July 2010 page 10

Prof. Richard G Cotton, the Head of HVP, officially launched the Malaysian node of HVP.

Later Professor Richard G Cotton along with Dr. Vilasini A/P Pillai

and the representative from MOSTI as well as the presidents of the Genetics

Society and the Medical Genetics Society of Malaysia signed on a plaque to

mark the launching of the Malaysian node.

Besides the launching of the Malaysian node, the 1Malaysia Human

Genome Variation website and the national Malay whole genome SNPs

database were also launched. There was also a multimedia show on the

1MHGVC and the HVP which was very entertaining and informative.

More information on the 1MHGVC can be obtained from:

http://1mhgvc.kk.usm.my/

This consortium with all its projects, will provide new horizons for

genetics and medical genetics services and research in Malaysia.

President of the Genetics Society of Malaysia, Prof. Mohamad Osman signing the plaque to mark the launching of the Malaysian node of HVP.

AP Dr Zilfalil Bin Alwi, Prof Dr. Mohamad Osman (President

Genetics Society of Malaysia) and Prof. Richard. G.

Cotton listening to the speech of Dr. Vilasini A/P Pillai N.V

along with other participants.

Members of the organizing committee

AP Dr Zilfalil Bin Alwi, Prof Dr. Mohamad Osman (President

Genetics Society of Malaysia) and Prof. Richard. G.

Cotton listening to the speech of Dr. Vilasini A/P Pillai N.V

along with other participants.

Members of the organizing committee

Assoc. Prof Dr. Zilfalil signing the plaque to mark the

launching of the Malaysian node of HVP.

The members of consortium enjoying their dinner

Assoc. Prof Dr. Zilfalil signing the plaque to mark the

launching of the Malaysian node of HVP.

The members of consortium enjoying their dinner

GENETIK July 2010 page 11

A group picture of the consortium members along with the participants of the event, Dr. Vilasini A/PPillai N.V.

(representing Professor Emeritus Dato’ Zakri Abdul Hamid), AP Dr Zilfalil Bin Alwi (Head of 1MHGVC)

and Prof. Richard G Cotton (Head of HVP).

A group picture of the consortium members along with the participants of the event, Dr. Vilasini A/PPillai N.V.

(representing Professor Emeritus Dato’ Zakri Abdul Hamid), AP Dr Zilfalil Bin Alwi (Head of 1MHGVC)

and Prof. Richard G Cotton (Head of HVP).

REFERENCES

Editorial, Nature Genetics. (2007). Compete, collaborate, compel. Nature Genetics 39, 931.

Keightley, P. D., & Eyre-Walker, A. (2000). Deleterious mutations and the evolution of sex. Science, 290, 331-333.

Matthew C. Keller (2006). The Role of Mutations in Human Mating. Chapter for Mating Intelligence: Theoretical and Empirical

Insights into Intimate Relationships.

Nachman, M. W., & Crowell, S. L. (2000). Estimate of the mutation rate per nucleotide in humans. Genetics, 156, 297-304.

1Malaysia Human Genome Variation Consortium:

Abdul Halim Fikri Bin Hashim, Abdul Karim Hercus, Abhimanyu a/l Veerakumarasivam, Aida Wati Bt Zainan Abidin, Amir Feisal

Feisul Idzwan Mustapha, Hamid Jan Bin Jan Mohamed, Ida Madieha Bt Azmi, Lim Kong Boon, Lokman bin Mohd. Noh, Majdah Bt

Zawawi, Maude Elvira Phipps, Mohamed Saifulaman B. Mohamed Said, Mohammad Redzuan Othman, Mohammed Rizman Bin Idid,

Mohd Amin Jalaludin, Mohd Mokhtar Bin Saidin, Mohd Sapawi Bin Mohamed, Muzaimi Bin Mustapha, Nazri Mustaffa, Ng Chong

Han, Nik Norliza Bt Nik Hassan, Noorizan Bt Abd. Majid, Nor Asmaa’ Bt Mohd Nawi, Nur Aini Bt Abd. Rashid, Nur Shafawati Bt

Bt Wan Isa, Wan Rohani Wan Taib, Zabidi Azhar Bin Hussin, Zahurin Mohamed, Zarina Bt. Abd. Latiff, Zilfalil Bin Alwi, Zurkurnai