INVITED COMMENTARY:
Genetics and Genomic Medicine Around the World
Genetics and genomics in Thailand:
challenges and opportunities
Vorasuk Shotelersuk1,2, Chanin Limwongse3 &
Surakameth Mahasirimongkol4
1
Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine,
Chulalongkorn University, Bangkok, 10330, Thailand
2
Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai
Red Cross Society, Bangkok, 10330, Thailand
3
Departments Medicine and Research and Development, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, 10700, Thailand
4
Medical Genetic Centre, Medical Life Sciences Institute, Department of Medical Sciences,
Ministry of Public Health, Nonthaburi, 11000, Thailand
doi: 10.1002/mgg3.83
Thailand: A Developing Middle
Income Country
Thailand’s history goes back more than 700 years, and
since 1782, Bangkok has been the capital. The population
of Thailand in 2013 was 69.52 million, ranked 20th in the
world (http://www.worldpopulationstatistics.com/). More
than 14 million (or 22% of the total population) live
in the Bangkok Metropolitan Region, located in Central
Thailand
(http://worldpopulationreview.com/countries/
thailand-population/) (Fig. 1). The original Thai were
thought to have descended from the Altai Mountain
region in the South of China. More recent genetic evidence suggests that the origin of Thai was from India
(Abdulla et al. 2009). Seventy-five percent of all people in
Thailand are ethnic Thais. From about 1850 to the end of
the World War II, there was a large and steady wave of
Chinese immigration to Thailand. Currently, around 14%
of the population has Chinese origin and the remaining
11% is made up of various other groups (http://en.wikipedia.org/wiki/Demographics_of_Thailand). Subsequent
generations of Chinese in Thailand have Thai names,
speak Thai, consider themselves Thai, and have married
original Thai. Therefore, it is now very difficult to distinguish the original Thai from Chinese Thai. Although not
strictly prohibited, consanguineous marriages are strongly
discouraged in both original Thai and Thai–Chinese
cultures.
Thailand’s gross domestic product (GDP) was 366 billion U.S. dollars (USD), ranked 21st in the world, and is
grouped in the upper middle income category by the
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Figure 1. Map of Thailand.
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This is an open access article under the terms of the Creative Commons Attribution License, which permits use,
distribution and reproduction in any medium, provided the original work is properly cited.
V. Shotelersuk et al.
World Bank. (http://data.worldbank.org/country/thailand). The politics of Thailand are a constitutional monarchy, whereby the Prime Minister is the head of
government and a hereditary monarch is head of state,
and the judiciary branch is independent of the executive
and the legislative branches. Since 2001, populist policies
have been implemented including a universal healthcare
scheme, which has tremendously impacted the medical
system and genetic service in Thailand.
Medical and Genetic Services
Health, medical service in general
Thailand has had a successful history of health improvement with a life expectancy of 71 years for males and
78 years for females, and with a reduction in infant mortality from 68 per 1000 in 1970 to 13 per 1000 today
(Statistical Thailand, 2013; http://bps.ops.moph.go.th/).
The public health system in Thailand had been transformed since the adoption of the National Health Security
Act in 2002 (Tangcharoensathien et al. 2011) with the
National Health Security Office (NHSO) financing the
health system and the Ministry of Public Health (MOPH)
providing health services. As a research institute within
the MOPH, the Health Intervention and Technology
Assessment Program (HITAP) provides evidence-based
economic healthcare policy evaluations which determines
covered services (Mohara et al. 2012).
Three reimbursement systems are in place, the Universal Health Coverage Scheme, the social security system,
and the government officer reimbursement plan, resulting
in more than 96% of the population having health insurance that covers preventive and treatment costs including
genetic services. Unfortunately, some standard tests are
not currently covered, for example, molecular testing for
possible carriers of X-linked disorders.
In 2008, 1226 hospitals (954 public and 272 private)
with 125,866 beds were available to provide in-patients
services. Both the private and public sector healthcare
workers receive training funding from the human
resource development effort of the MOPH (Tangcharoensathien et al. 2013).
Genetics services and testing
During the 1970s, specialists graduating from training
programs in either the United Kingdom (U.K.) or the
United States (U.S.A.) established clinical genetic services
in Thailand in both hematology and pediatric departments. In the 1980s, cytogenetic services began in Thai
university hospitals as laboratory specialist received training abroad, and since the 1980s, governmental cytogenetic
Genetics and Genomics in Thailand
laboratories have become available throughout the country. On a much smaller scale, private sector laboratories
also provide genetic services.
Molecular genetic testing for thalassemia became available 30 years ago and was the first available genetic test
excluding karyotypes. With its abundance of thalassemia,
Thailand has always been one of the world leaders for
advancing research in hemoglobinopathies (Wasi et al.
1964, 1967; Clegg et al. 1968; Na-Nakorn et al. 1969).
Expansion of genetic testing to other disorders began
around 1990 with evaluations for dystrophinopathy, autosomal dominant polycystic kidney disease (ADPKD), and
spinocerebellar ataxia type 3.
Since 1999, a continued presence of board certified
geneticists has been available in Thailand. Currently, there
are 22 practicing clinical geneticists, and 11 are diplomates of the American Board of Medical Genetics. With
better testing including fluorescence in situ hybridization
and cancer cytogenetics, and more practicing genetic physicians, the specialty of genetics has gained more acceptance and referrals and consultations have grown.
Prenatal diagnosis for Mendelian diseases and preimplantation genetic diagnosis (PGD) have been made available over the past 20 years with test panels now
comparable to most developed countries. Noninvasive
prenatal fetal trisomy (NIFTY) testing as well as rapid
invasive diagnostic methods for common aneuploidy are
available as send out tests to out of country laboratories.
Two university-based laboratories and one private laboratory are currently providing PGD services for a few Mendelian diseases including thalassemia (Piyamongkol et al.
2006).
Currently, ten governmental and seven private cytogenetic laboratories provide karyotyping service, four university-based molecular laboratories carry out DNA testing for
Mendelian disorder, and a single university laboratory provides mitochondrial DNA testing. Five governmental laboratories handle pharmacogenetic testing for HLA-B*1502,
which is a susceptibility allele for Stevens–Johnson syndrome in-patients treated with carbamazepine, and three
other laboratories provide other pharmacogenetic testing.
For cancer-related pharmacogenetic testing, two governmental laboratories offer testing such as KRAS mutation
status in candidates for anti-epidermal growth factor receptor therapy. There are three biochemical genetics laboratories located in university hospitals in Bangkok providing
urine organic acid analysis and plasma amino acid analysis
(Shotelersuk et al. 2000). Although enzymatic assays of
various enzymes were desired, sufficient financial support
was not available and therefore, most inherited metabolic
disorders are diagnosed by molecular testing (Champattanachai et al. 2003; Shotelersuk et al. 2004; Tammachote
et al. 2009, 2010, 2012, 2013; Amarinthnukrowh et al.
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V. Shotelersuk et al.
Genetics and Genomics in Thailand
2010; Prommajan et al. 2011; Vatanavicharn et al. 2012). If
enzymatic assays are needed, they are sent out to other
countries.
Next generation sequencing (NGS) technologies for
research have been available in Thailand for a few years
with at least five institutes in Thailand possessing NGS
technology. NGS services are currently limited by a deficiency in well-trained bioinformaticians.
With all the progress in genetic services over the last
40 years, there are still only 22 clinical geneticists available to cover 69 million people, and much of their time
is spent as genetic laboratory supervising. There are no
genetic counselors in Thailand, adding to the manpower
shortage. A local postgraduate fellowship training program for medical (pediatric) geneticist is currently
approved for 2014 with the hope of supplementing the
next generation of graduates to work in this field.
affected with one of the three severe forms of alpha or
beta thalassemia. Specific mutation testing for beta thalassemia was introduced in 2010 in order to predict the
severity of beta thalassemia/Hb E disease, the most prevalent severe form. Couples found to be at risk of mild
nontransfusion-dependent thalassemia are currently
encouraged to continue their pregnancy. From the treatment standpoint, major advances in the past 10 years
include maintaining an adequate blood supply for transfusions, making available local-made oral iron chelating
medication, and continuous training of healthcare personnel specializing in the care of thalassemia major. Due to
these major achievements, there are almost no cases of
Hb Bart’s hydrops fetalis and the majority of pregnancies
with DNA proven major beta thalassemia are terminated
in the second trimester.
Pharmacogenetics
Coverage of genetic testing under the
universal healthcare scheme
National neonatal screening operation centre
Neonatal screening programs are administered by two
organizations, the national neonatal screening operation
center of MOPH that operates in all provinces and metabolic genetic center of Mahidol University located in
Bangkok. Since 1996, these centers have provided coverage for 95% of all newborns for congenital hypothyroidism (Charoensiriwatana et al. 2003) and phenylketonuria
(Pangkanon et al. 2009)(Charoensiriwatana et al. 2008).
Other neonatal screening for inborn errors of metabolism
besides these two diseases is not funded.
Pharmacogenetics testing has been implemented nationwide and in 2013, university- based medical centers
including Chulalongkorn University, Mahidol University,
KhonKaen University, and Prince of Songkla University
established pharmacogenetics testing services. Recently,
HLA-B*1502 testing used for prevention of severe cutaneous adverse reactions (SCAR) from carbamazepine was
proven to be cost-effective in Thailand which is the reason this makes up most of the pharmacogenetic testing
(Rattanavipapong et al. 2013). The HLA genotyping laboratories have been compelled to extend their capacity as
Thailand is among the top countries in number of SCAR
cases from The Uppsala Monitoring Centre (UMC) and
pilot testing for HLA-B*1502 has been launched in Bangkok through supports of NHSO’s Bangkok Office.
Thalassemia
The national program for prevention and control of thalassemia has been a 30-year struggle due to the mutation
heterogeneity and complexity, the differential access to
health care among regions, and the inconsistent governmental funding. Twenty years ago, Thailand established a
national prevention and control policy with two objectives: to offer high-quality care for the affected (Abdulla
et al. 2009) and to provide universal screening and counseling for couples at risk of having a child with severe
thalassemia (Tangcharoensathien et al. 2011). With the
academic support of the Thalassemia Foundation of Thailand, the Ministry of Health has been the leader in the
effort to prevent and treat thalassemia. Since 2003, a
nationwide screening strategy has been implemented in
prenatal clinics with reflexive spouse testing. For identified couples at risk, counseling and prenatal diagnosis is
offered, and pregnancy termination offered if the fetus is
212
Outreach clinics
Since resources are mostly pooled in Bangkok and a few
other big cities, many patients in rural areas do not have
access to medical and genetics services. Many outreach
clinics have been started to help alleviate this problem. As
an example, the Smart Smile and Speech Project was initiated by the Thai Red Cross Society to properly and
holistically treat all children with oral clefts born in Thailand since 2005 is one of the very successful projects.
Birth Defect Registry and folate
The Thailand Birth Defects Registry which provides preventive measures and an educational program was developed in 2008 to decrease the incidence of birth defects and
to provide care for children with birth defects in a holistic
manner. Care maps of five birth defects – Down syndrome,
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V. Shotelersuk et al.
neural tube defects, cleft lip/palate, limb defects, and
Duchenne muscular dystrophy – were established (http://
birthdefects.nhso.go.th/BirthDefects/login.xhtml).
It has been widely accepted that periconceptional consumption of folic acid (FA) can prevent many congenital
anomalies. In 2003, a survey of 383 pregnant Thai women
showed 23% knew that FA helped to prevent birth
defects, 3% knew that FA should be taken before pregnancy, and only 0.3% reported taking FA before pregnancy (Vilaiphan et al. 2007). The Thai Government
Pharmaceutical Organization has produced Triferdine
(ferrous fumarate 185 mg + iodine 0.15 mg + folic acid
0.4 mg) for pregnant women; however, FA has not been
produced for women of reproductive age and there have
been no government policies for educational campaigns
or food fortification with FA.
Reproductive Law
The current law permits abortion only in cases where
continuing the pregnancy would jeopardize the mother’s
life and for rape and does not allow termination of pregnancy at any stages no matter how severe is the disease the
fetus carries. Several attempts have been made to modify
the law; however, Thais are 99% Buddhists and Buddhism
considers conception as the beginning of life thus making
termination an unfavorable idea among both pregnant
couples and obstetricians alike. Nonetheless, some modification of the medical council level regulation has been put
into place that allows a termination of pregnancy based on
maternal mental health issues. This notion paved the way
for a plausible reason for abortion under the condition that
the mother could be considered to have a jeopardized
mental status by knowing that her fetus was affected with a
serious genetic disease. Hospital-based abortion committee
could then offer inpatient abortion for pregnancy with a
proven serious genetic disorder.
Medical genetic testing is regulated by the national
Food and Drug Administration (FDA); however, the
direct-to-consumer genetic tests are regulated by consumer law and such testing is currently not included
under the jurisdiction of the national FDA. It will be
interesting to see how Thai society will cope with the
influx of personalized medicine as this type of testing
becomes more available. There is also currently no law to
prevent discrimination based on genetic status such as the
Genetic Information Nondiscrimination Act (GINA) in
the United States.
Teaching
Medical school curriculum has included medical genetics
as one of the required courses for more than 20 years.
Genetics and Genomics in Thailand
However, due to the shortage of medical genetic specialists, these courses are often not given by geneticists. Biologists, medical technologists, and clinical pathologists in
some universities have been responsible for such teaching.
With different types of curriculum, medical genetics
is generally offered either as a week- or month-long
program during preclinical rotations.
Clinical genetics has not been recognized as a specialty
by the Medical Association of Thailand. However, a formal training program for pediatricians to become medical
geneticists will be launched in the academic year of 2014,
under the Royal College of Pediatricians. Also as noted
above, there are no training programs for genetic counselors.
Molecular genetics is a well-established field in
Thailand. There are hundreds of scientists using molecular techniques for research. However, cytogeneticists and
biochemical geneticists are extremely insufficient.
Research “Opportunities to Study
Tropical Genetic Diseases in
Thailand”
Thailand harbors rare genetic diseases, unique to Thailand, which have contributed to the international
knowledge on diseases such as benign adult familial
myoclonic epilepsy (Yeetong et al. 2013). Furthermore,
clinical features of the same single gene disorders but
with different ethnic background may have a different
phenotype (Shotelersuk 2003). In addition to rare diseases, Thailand has a number of common genetic diseases including thalassemia, the most common
Mendelian disease in Thailand. Mutation carriers were
estimated at 30–40% of the Thai population. In addition to thalassemia alleles, HLA-B*1502 is found in
about 9% of the Thai population making Carbamazepine and phenytoin-induced Stevens–Johnson syndrome
more common in Thailand than any other place in the
world (Locharernkul et al. 2008), and this association
has helped identify carbamazepine-induced hypersensitivity reactions in Europeans associated with HLA-A*3101
(McCormack et al. 2011).
Many studies on genetic factors of tropical infectious
diseases have been performed here, including cholangiocarcinoma which has its highest prevalence in KhonKhan,
a city in northeastern Thailand. Opisthorchis viverini has
long been found to be a risk factor for cholangiocarcinoma
and recent genetic studies provide insight into the mutational landscape, which may lead to specific-targeted therapy (Ong et al. 2012). A study of dengue fever, a common
tropical disease in Thailand, showed a variant in CD209
having a crucial role in dengue pathogenesis which may
allow for preventive strategies (Sakuntabhai et al. 2005).
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Figure 2. Clinical features of frontoethmoidal encephalomeningocele (FEEM), a birth defect which is more common in Thailand than other parts
of the world.
The underlying causes of some common diseases in
Thailand are still elusive. As an example, frontoethmoidal
encephalomeningocele (FEEM), a type of neural tube
defect, characterized by a congenital bone defect of the
anterior cranium between the frontal and ethmoidal
bones resulting in herniation of meninges and brain tissues (Fig. 2), has a unique geographical distribution.
FEEM is much more common in Southeast Asia, with an
approximate prevalence of 1 in 6000. Risk factors associated with FEEM include low socioeconomic status,
advanced maternal age, and a long interpregnancy interval, most likely making this a multifactorial complex
disease (Suphapeetiporn et al. 2008).
Oral clefts are common in Thailand and genetic studies have demonstrated many genetic susceptibility loci
and new mutations (Shotelersuk et al. 2003; Srichomthong et al. 2005, 2013; Tongkobpetch et al. 2006, 2008;
Suphapeetiporn et al. 2007; Rattanasopha et al. 2012),
including p63 which causes an isolated cleft lip (Leoyklang et al. 2006), and SATB2 which causes a unique
dysmorphic syndrome with intellectual deficit, SATB2associated syndrome (SAS) (Leoyklang et al. 2007,
2013).
Genetic diseases with a higher prevalence in Thailand
compared to other parts of the world are a compelling
reason to conduct research here. Unfortunately, there are
limitations including inadequate budget, insufficient
advanced technologies and knowledgeable personnel in
bioinformatics, and inefficient supporting systems. However, we are optimistic that collaborations between local
and foreign researchers will lead to better care of patients
both in Thailand and globally.
214
Acknowledgments
This study was supported by the Ratchadapiseksomphot
Endowment Fund of Chulalongkorn University
(RES560530177-HR) and the Thailand Research Fund
(RTA5680003).
Conflict of Interest
None declared.
References
Abdulla, M. A., I. Ahmed, A. Assawamakin, J. Bhak, S. K.
Brahmachari, G. C. Calacal, et al. 2009. Mapping human
genetic diversity in Asia. Science 326:1541–1545. Epub 17
December 2009.
Amarinthnukrowh, P., S. Tongkobpetch, A. Kongpatanayothin,
K. Suphapeetiporn, and V. Shotelersuk. 2010. p.D645E of
acid alpha-glucosidase is the most common mutation in
thai patients with infantile-onset pompe disease. Genet.
Test Mol. Biomarkers 14:835–837. Epub 03 November
2010.
Champattanachai, V., J. R. Ketudat Cairns, V. Shotelersuk, S.
Keeratichamroen, P. Sawangareetrakul, C. Srisomsap, et al.
2003. Novel mutations in a Thai patient with
methylmalonic acidemia. Mol. Genet. Metab. 79:300–302.
Epub 02 September 2003.
Charoensiriwatana, W., N. Janejai, W. Boonwanich, P.
Krasao, S. Chaisomchit, and S. Waiyasilp. 2003. Neonatal
screening program in Thailand. Southeast Asian J. Trop.
Med. Public Health 34(Suppl. 3):94–100. Epub 24 May
2005.
ª 2014 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
V. Shotelersuk et al.
Charoensiriwatana, W., P. Srijantr, N. Janejai, and S. Hasan.
2008. Application of geographic information system in TSH
neonatal screening for monitoring of iodine deficiency areas
in Thailand. Southeast Asian J. Trop. Med. Public Health
39:362–367. Epub 21 June 2008.
Clegg, J. B., D. J. Weatherall, S. Na-Nakorn, and P. Wasi.
1968. Haemoglobin synthesis in beta-thalassaemia. Nature
220:664–668. Epub 16 November 1968.
Leoyklang, P., P. Siriwan, and V. Shotelersuk. 2006. A
mutation of the p63 gene in non-syndromic cleft lip.
J. Med. Genet. 43:e28. Epub 03 June 2006.
Leoyklang, P., K. Suphapeetiporn, P. Siriwan, T. Desudchit, P.
Chaowanapanja, W. A. Gahl, et al. 2007. Heterozygous
nonsense mutation SATB2 associated with cleft palate,
osteoporosis, and cognitive defects. Hum. Mutat. 28:732–
738. Epub 23 March 2007.
Leoyklang, P., K. Suphapeetiporn, C. Srichomthong,
S. Tongkobpetch, S. Fietze, H. Dorward, et al. 2013.
Disorders with similar clinical phenotypes reveal underlying
genetic interaction: SATB2 acts as an activator of the UPF3B
gene. Hum. Genet. 132:1383–1393. Epub 09 August 2013.
Locharernkul, C., J. Loplumlert, C. Limotai, W. Korkij, T.
Desudchit, S. Tongkobpetch, et al. 2008. Carbamazepine
and phenytoin induced Stevens-Johnson syndrome is
associated with HLA-B*1502 allele in Thai population.
Epilepsia 49:2087–2091. Epub 22 July 2008.
McCormack, M., A. Alfirevic, S. Bourgeois, J. J. Farrell,
D. Kasperaviciute, M. Carrington, et al. 2011. HLA-A*3101
and carbamazepine-induced hypersensitivity reactions in
Europeans. N. Engl. J. Med. 364:1134–1143. Epub 25 March
2011.
Mohara, A., S. Youngkong, R. P. Velasco, P. Werayingyong, K.
Pachanee, P. Prakongsai, et al. 2012. Using health technology
assessment for informing coverage decisions in Thailand. J.
Comp. Eff. Res. 1:137–146. Epub 01 March 2012.
Na-Nakorn, S., P. Wasi, M. Pornpatkul, and S. N. Pootrakul.
1969. Further evidence for a genetic basis of haemoglobin H
disease from newborn offspring of patients. Nature 223:59–
60. Epub 05 July 1969.
Ong, C. K., C. Subimerb, C. Pairojkul, S. Wongkham, I.
Cutcutache, W. Yu, et al. 2012. Exome sequencing of liver
fluke-associated cholangiocarcinoma. Nat. Geneti. 44:690–
693. Epub 09 May 2012.
Pangkanon, S., W. Charoensiriwatana, N. Janejai, W.
Boonwanich, and S. Chaisomchit. 2009. Detection of
phenylketonuria by the newborn screening program in
Thailand. Southeast Asian J. Trop. Med. Public Health
40:525–529. Epub 22 October 2009.
Piyamongkol, W., T. Vutyavanich, S. Piyamongkol,
D. Wells, C. Kunaviktikul, T. Tongsong, et al. 2006. A
successful strategy for preimplantation genetic diagnosis of
beta-thalassemia and simultaneous detection of Down’s
syndrome using multiplex fluorescent PCR. J. Med. Assoc.
Thai. 89:918–927. Epub 03 August 2006.
Genetics and Genomics in Thailand
Prommajan, K., S. Ausavarat, C. Srichomthong, V.
Puangsricharern, K. Suphapeetiporn, and V. Shotelersuk.
2011. A novel p. E276K IDUA mutation decreasing
alpha-L-iduronidase activity causes mucopolysaccharidosis
type I. Mol. Vis. 17:456–460. Epub 03 March 2011.
Rattanasopha, S., S. Tongkobpetch, C. Srichomthong,
P. Siriwan, K. Suphapeetiporn, and V. Shotelersuk. 2012.
PDGFRa mutations in humans with isolated cleft palate.
Eur. J. Hum. Genet. 20:1058–1062. Epub 05 April 2012.
Rattanavipapong, W., T. Koopitakkajorn, N. Praditsitthikorn,
S. Mahasirimongkol, and Y. Teerawattananon. 2013.
Economic evaluation of HLA-B*15:02 screening for
carbamazepine-induced severe adverse drug reactions in
Thailand. Epilepsia 54:1628–1638. Epub 31 July 2013.
Sakuntabhai, A., C. Turbpaiboon, I. Casademont, A.
Chuansumrit, T. Lowhnoo, A. Kajaste-Rudnitski, et al. 2005.
A variant in the CD209 promoter is associated with severity
of dengue disease. Nat. Genet. 37:507–513 Epub 2005/04/20.
Shotelersuk, V. 2003. Clinical genetics in children. Text and
Journal Publication, Bangkok, Thailand.
Shotelersuk, V., S. Srivuthana, S. Wacharasindhu, V.
Dhamcharee, S. Jaruratanasirikul, S. Pangkanon, et al. 2000.
Establishing gas chromatography-mass spectrometry to
diagnose organic acidemias in Thailand. Southeast Asian J.
Trop. Med. Public Health 31:566–570. Epub 06 April 2001.
Shotelersuk, V., C. Ittiwut, P. Siriwan, and A. Angspatt. 2003.
Maternal 677CT/1298AC genotype of the MTHFR gene as a
risk factor for cleft lip. J. Med. Genet. 40:e64. Epub 15 May
2003.
Shotelersuk, V., T. Desudchit, and S. Tongkobpetch. 2004.
ASA E382K disrupts a potential exonic splicing enhancer
and causes exon skipping, but missense mutations in ASA
are not associated with ESEs. Int. J. Mol. Med. 14:683–689.
Epub 19 September 2004.
Srichomthong, C., P. Siriwan, and V. Shotelersuk. 2005.
Significant association between IRF6 820G->A and
non-syndromic cleft lip with or without cleft palate in the
Thai population. J. Med. Genet. 42:e46. Epub 05 July 2005.
Srichomthong, C., R. Ittiwut, P. Siriwan, K. Suphapeetiporn,
and V. Shotelersuk. 2013. FOXE1 mutations in Thai patients
with oral clefts. Genet. Res. 95:133–137. Epub 21 November
2013.
Suphapeetiporn, K., S. Tongkobpetch, P. Siriwan, and V.
Shotelersuk. 2007. TBX22 mutations are a frequent cause of
non-syndromic cleft palate in the Thai population. Clin.
Genet. 72:478–483. Epub 18 September 2007.
Suphapeetiporn, K., C. Mahatumarat, N. Rojvachiranonda, C.
Taecholarn, P. Siriwan, S. Srivuthana, et al. 2008. Risk
factors associated with the occurrence of frontoethmoidal
encephalomeningocele. Eur. J. Paediatr. Neurol. 12:102–107.
Epub 18 September 2007.
Tammachote, R., S. Tongkobpetch, T. Desudchit,
K. Suphapeetiporn, and V. Shotelersuk. 2009. Prenatal
diagnosis of a novel mutation, c.529C>T (p.Q177X), in the
ª 2014 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
215
V. Shotelersuk et al.
Genetics and Genomics in Thailand
BCKDHA gene in a family with maple syrup urine disease.
J. Inherit. Metab. Dis. 32(Suppl. 1):S33–36. Epub 26
February 2009.
Tammachote, R., S. Janklat, S. Tongkobpetch, K.
Suphapeetiporn, and V. Shotelersuk. 2010. Holocarboxylase
synthetase deficiency: novel clinical and molecular findings.
Clin. Genet. 78:88–93. Epub 26 January 2010.
Tammachote, R., N. Kingsuwannapong, S. Tongkobpetch, C.
Srichomthong, P. Yeetong, P. Kingwatanakul, et al. 2012.
Primary hyperoxaluria type 1 and brachydactyly mental
retardation syndrome caused by a novel mutation in AGXT
and a terminal deletion of chromosome 2. Am. J. Med.
Genet. A 158A:2124–2130. Epub 27 July 2012.
Tammachote, R., S. Tongkobpetch, C. Srichomthong, K.
Phipatthanananti, S. Pungkanon, D. Wattanasirichaigoon,
et al. 2013. A common and two novel GBA mutations in
Thai patients with Gaucher disease. J. Hum. Genet. 58:594–
599 Epub 31 May 2013.
Tangcharoensathien, V., W. Patcharanarumol, P. Ir,
S. M. Aljunid, A. G. Mukti, K. Akkhavong, et al. 2011.
Health-financing reforms in southeast Asia: challenges in
achieving universal coverage. Lancet 377:863–873. Epub 29
January 2011.
Tangcharoensathien, V., S. Limwattananon, R. Suphanchaimat,
W. Patcharanarumol, K. Sawaengdee, and W. Putthasri.
2013. Health workforce contributions to health system
development: a platform for universal health coverage. Bull.
World Health Organ. 91:874–880. Epub 19 December 2013.
Tongkobpetch, S., P. Siriwan, and V. Shotelersuk. 2006. MSX1
mutations contribute to nonsyndromic cleft lip in a
216
Thai population. J. Hum. Genet. 51:671–676. Epub 27 July
2006.
Tongkobpetch, S., K. Suphapeetiporn, P. Siriwan, and
V. Shotelersuk. 2008. Study of the poliovirus receptor
related-1 gene in Thai patients with non-syndromic cleft lip
with or without cleft palate. Int. J. Oral Maxillofac. Surg.
37:550–553. Epub 22 March 2008.
Vatanavicharn, N., V. Champattanachai, S. Liammongkolkul,
P. Sawangareetrakul, S. Keeratichamroen, J. R. Ketudat
Cairns, et al. 2012. Clinical and molecular findings in Thai
patients with isolated methylmalonic acidemia. Mol. Genet.
Metab. 106:424–429. Epub 15 June 2012.
Vilaiphan, P., K. Suphapeetiporn, V. Phupong, and V.
Shotelersuk. 2007. An exceptionally low percentage of Thai
expectant mothers and medical personnel with folic acid
knowledge and peri-conceptional consumption urges an
urgent education program and/or food fortification. Int.
J. Food Sci. Nutr. 58:297–303. Epub 15 June 2007.
Wasi, P., S. Na-Nakorn, and A. Suingdumrong. 1964.
Haemoglobin disease in Thailand: a genetical study. Nature
204:907–908. Epub 28 November 1964.
Wasi, P., S. Na-Nakorn, and A. Suingdumrong. 1967. Studies
of the distribution of haemoglobin E, thalassaemias and
glucose-6-phosphate dehydrogenase deficiency in northeastern Thailand. Nature 214:501–502. Epub 29 April 1967.
Yeetong, P., S. Ausavarat, R. Bhidayasiri, K. Piravej,
N. Pasutharnchat, T. Desudchit, et al. 2013. A newly
identified locus for benign adult familial myoclonic epilepsy
on chromosome 3q26.32-3q28. Eur. J. Hum. Genet. 21:225–
228. Epub 21 June 2012.
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