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Proteomics:
..

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Lost Myself in the Jungle of Microbes (Viruses)
.. .

(Aquaculture Research Park)
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From Structural Biology Towards a Better Understanding of Life

()
..

..


-


.
- (Decorated Teeth)


.
- Mitochondrial DNA Human Race


.
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- Occipitohypothalamic Tract: New Finding


-
..



(From Research to Clinical Application Leading to National

and International Policy)
..

(Taxonomy)
.. .

..

.. Professor Emeritus Phillip V. Tobias

The Pleistocene Dispersal of Humanity and place of Thailand
..

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.

,
(DNA analysis)
(genetic testing).

1 (haploid chromosomes, 23
) 1 .
23 (diploid zygote), 1-22 autosome
, XX XY .

*
(Analysis of Human Gene Mutation and Polymorphism).
, 24-27 2544.
, ,
.
11



homologous chromosomes ( ),
homolog.

.
(The Human Genome Project)
32,000 24 , 1-22 X Y.

(locus, loci).
homologous chromosomes
.

homolog ,
2 . ,
, allele ().
2 ,
2, multiple alleles.

(normal allele)
(mutant allele) heterozygosity
heterozygote ().
homozygosity homozygote ().
compound heterozygosity
compound heterozygote (, genetic compound).
X hemizygote (
) , heterozygote homozygote .

12

,

,
, multifactorial ()
, somatic cell genetic
somatic (), mitochondrial
(mitochondrial genome).

I. (Mendelian monogenic disorders)

heterozygote
dominant ().
homozygote recessive
().

autosome
autosomal dominant autosomal recessive.
X X-linked dominant X-linked recessive.
Y () Y-linked
.

heterozygote autosomal X-linked
recessive carrier ().

.
, carrier heterozygote detection.

13

Lyonization random inactivation X

X 2 Lyonization
somatic (inactivated)
(random inactivation).
. mosaic
X, (active)
.
X-linked recessive
X
.

Mendelian

autosomal
. X-linked X-linked recessive
, X-linked dominant
. X-linked
(no male-to-male transmission) Y
. recessive
, dominant
.

autosomal dominant X-linked
dominant X-linked dominant (
X ) , ( Y
) .

14

 Mendelian

Mendelian 3 .
(rare gene). autosomal recessive (common gene).

. cystic
fibrosis phenylketonuria , Tay-Sachs Canavan
Ashkenazi, .

Mendelain .
, ,
. .

.

metabolic pathway. Mendelian

(imaging) .

(molecular diagnosis)
(clinical phenotype) ,
(carrier heterozygote detection) autosomal
recessive X-linked recessive ( Lyonization
),
(presymptomatic detection) ,

(prenatal diagnosis), .


.
15

II. (chromosomal disorders)

,
. autosome sex chromosome .

2 3 (
trisomy) 3
2 . 1 1 (
monosomy) .


, .

.

haploid chromosome
( 23 ), 1 ( triploidy)
23x3 69 46 (diploid) .
.
,
, .
autosome sex chromosome
.


nondisjunction meiosis
zygote, mitosis zygote
. mitosis (post-zygotic mitosis)
chromosomal mosaicism,
.
(chromosome break)
(rejoin) .
16



.
(de novo mutation)
,
balanced
carrier , .
.


. trisomy 21 Down
.


, fluorecence in-situ hybridization (FISH)
(molecular probe)
. ()
microdeletion
microduplication.
.

III. multifactorial (multifactorial disorders) complex trait

. ,
, .
(liability)
(threshold) .

.

,
, .
17


.

(prediction) ,
. DNA
polymorphism () association ()
. (
(predictive testing) .)

DNA polymorphism
(genome, )
.
DNA polymorphism . DNA polymorphism
, restriction fragment length polymorphisms (RFLP), variable number
of tandem repeats (VNTR), short tandem repeats (STR), single nucleotide
polymorphisms (SNP).

IV. somatic cell genetic (somatic cell genetic disorders)

somatic (somatic mutation).
oncogene (), tumor-suppressor gene (
), DNA repair gene ().
.
(malignant) ,
(metastasis).

,
, .
.
(germline mutation)
(hereditary cancer).
18

 (
), (hereditary cancer syndrome)
( Li-Fraumeni syndrome von Hippel-Lindau
disease). ,
( ),
( ), . (genetic
predisposition) autosomal dominant .
germline mutation

/.

V. mitochondrial (mitochondrial disorders)

mitochondrial genome,
nuclear genome.
, .

mitochondrial , maternal
inheritance. mitochondria cytoplasm
. mitochondrial

mitochondria .

mitochondria ,
mitochondrial Mendelian .

(, DNA polymorphism)
Mendelian,
19

 , ,
( X-linked autosomal recessive), .
(direct mutation analysis)
(linkage analysis) DNA
polymorphism genetic marker ().

,
, .
.

(genetic testing gene testing)

.
.
,
.

20

..
( )

..
(Certificate of
Postdoctoral Clinical Fellowship in Medical Genetics)
(University of Oregon Medical School,
Oregon Health and Science University) [MRCP
(UK)] (Royal Colleges of Physicians
of the United Kingdom)


..




21

-
.. -

- ..

- ..

- ..

- ..

( )
..

22

 I.
.
1. , , , .
1
, 27 - 1 2521.
2. ( ,
). "
." :
2, : , 97-116,
2524;10:125-135.
3. , , .
Human Cytogenetics Prenatal Diagnosis, ,
, ,
, 14 2529.
4. , . :
.
. : , 2535.
5. , (),
, , , ,
, , , ,
, , ()
: .
305
, 21 2544.
6. ( , ). .
: , , , .

, 2541:256-67.
23

7. Task Force (Chintana Sirinavin, Chairperson). Research Strategy: Hereditary

Diseases. In: Bhamarapravati N, Tontisirin K, Porapakkham Y, Eds. Strategic
plan for health research, Thailand 1999: an English Abstract. Bangkok:
Medical Research Committee of the National Research Council and WHO
Thailand Country Office, 1999:77-8.
. (review)
1. . .
1. 2524;33:815-24.
2. 2525;34:381-90.
3. 2525;34:455-70.
2. . .
2530;16:369-76.
3. . .
. : , , ,
. 100 . :
, 2531:38-44.
4. .
. 2532;18(10):55-67.
5. . .
2532;41:256-64.
6. . :
. 2534;1:69-76.
7. . .
2535;44:751-62.
8. . .
2535;44:1019-1024
24

9. . . : ,
, . . : , 2537:59-69.
10. , .
. 14 (Refresher Course),

, 24-26 2545
251-60.
.
1. ( ), , ,
, , , .
. 2532; 41:507-15.
2. ( ), , , .
. 2538;47:939-46.
. /
1. , , , , .
Hereditary hemorrhagic telangiectasia: report of a family with 3 cases of
pulmonary arteriovenous fistula.
24 , , 2522 (
)
2. Sunthornpalin P, Sirinavin C, Nithiyanant W. Porokeratosis of Mibelli
associated with vitiligo and hypothyroidism. 4th
Regional Conference of Dermatology, Penang, Malaysia, June 5-9, 1980.
3. . , , , BardetBiedl syndrome. The Fifth Siriraj Medical Congress,
, 24-28 2523 (: The Fifth
Siriraj Medical Congress Abstract, No. 74)
25

4. Vichayanrat A, Vannasaeng S, Sirinavin C, Tandhanand S. Familial isolated

growth hormone deficiency. The Fifth Siriraj Medical
Congress, 1980. Faculty of Medicine Siriraj Hospital, Mahidol University,
Bangkok, 24-28 March 1980 (: The Fifth Siriraj Medical congress
Abstract No. 77)
5. . . The Fifth
Siriraj Medical Congress, 24-28 2523,
2 ,
, 27-29 2523
6. , . Myotonia.
. , 27
2524
7. , , .
. 23
, 23-27 2524.
8. . Neurofibromatosis: .
25
, , 10-12 2524 (:
, 109-110)
9. . Hereditary polyposis of the gastrointestinal tract:
experience in a genetics unit. 24,
, 22-26 2525 (:
, 110)
10. . Genetic Counseling .
24, , 22-26
2525 (: , 11)

26

11. , , . :

. 3,
,
, 2-4 2525.
12. . Duchenne muscular dystrophy.
3,
, , 2-4 2525.
13. . Bone dysplasias.
24, , , 22-26
2525.
14. . Genetic disorders of the hand and foot.
24, ,
, 22-26 2525.
15. Sirinavin C, Thianprasit M, Bedavanija A. Hypertrichosis lanuginosa and
ape-like facies: a "new" autosomal dominant syndrome. Poster presentation
at the International Post-graduate Course "Identification of Genetic
Syndromes in Pediatrics", Palazzo dei Congressi, Florence, Italy, October
14-17, 1982.
16. , , , , ,
. Cancer family syndrome .
25, ,
, 21-25 2526 (: ,
434)
17. . .
25, , ,
21-25 2526 (: , 564)

27

18. , . .
25, ,
, 21-25 2526 (: ,
586)
19. , , , , ,
. Holt-Oram:
. 26,
, , 26-30 2527
(: , 96)
20. . "The Elephant Man" Neurofibromatosis.
26, ,
, 26-30 2527 (:
, 573-5)
21. , , , ,
. : .
100 , , 18-22 2531 (:
, 92)
22. , . . New Genetics: application
of recombinant DNA technology in medicine.
5, , , 19-21
2532 (: , 75-9)
23. . :
33, , , , 9-13 2533 (:
, 477-80)

28

24. , , , ,
, .
DNA. 6,
, , 18-20 2533 (:
, 156)
25. Vareesangthip K, Nimmnannit S, Sirinavin C, Noiklang P, Komoltri C,
Ong-Aj-Yooth C, Nilwarangkur S. Renal tubular function in patients with
different stages of adult polycystic kidney disease (ADPKD).
6, , , 18-20
2533 (: , 157)
26. , , , ,
, .
: .
6, ,
, 18-20 2533 (: , 156)
27. Nitiyanant W, Sriussadaporn S, Sirinavin C, Vannasaeng S, Vichayanarat A.
Pituitary function in Turner syndrome with severe growth deficiency.
6, ,
, 18-20 2533 (: , 115)
28. , , , .
Turner: 35 .
7, ,
, 24-26 2534 (: , 127)
29. Sirinavin C, Poungvarin N, Viriyavejakul A, Rodprasert P, Prayoonwiwat N,
Komoltri C. Autosomal dominant spinocerebellar ataxia in a large Thai
kindred. 7,
, , 24-26 2534 (: ,
176)
29

30. Sirinavin C, Thongtang O, Komoltri C, Nimmannit S, Nilwarangkur S,

Vareesangthip K. Attitudes of Thai families toward genetic counseling, and
presymptomatic and prenatal testing for adult polycystic kidney disease.
Poster presentation. The 8th International Congress of Human
Genetics, Washington, D.C., U.S.A, 6-11 October 1991 (: Proceedings of the 8th International Congress of Human Genetics, 1991 p 316)
31. , , , ,
, . :
. 8,
, , 22-24 2535 (: , 140)
32. Shayakul C, Sirinavin C, Nimmanit S, Vannasaeng S, The hitherto overlooked
renal abnormalities in Bardet-Biedl syndrome
8, , , 22-24
2535 (: , 183)
33. , , , .
spinocerebellar ataxia
. 8,
, , 22-24 2535 (
: , 184)
34. , , , .
Duchenne Becker muscular dystrophy
creatine kinase dinucleotide repeat polymorphisms:
. 9,
, , 20-23 2536 (: ,
114)

30

35. , , , . Hereditary
nonpolyposis colorectal cancer. 10,
, , 19-22 2537 (
: , 123)
36. , , , ,
, , . Adult polycystic kidney
disease :
3'HVR polymorphism. 8,
,
, , 29 -1 , 2536. (: ,
, . . : ,
282-3.)
37. , , . dinucleotide
repeat polymorphisms llinkage Duchenne
Becker muscular dystrophy. 8,
,
, , 29 -1 , 2536 (:
, , . . :
, 284-5.)
38. , , , .
Duchenne Becker muscular dystrophy
creatine kinase dinucleotide repeat polymorphisms:
. 9,
, , 20-23 2536. (: ,
114)

31

39. Uraiwan Youngchaiyid, Chintana Sirinavin, Chinavorn Promchainant. Bloom

syndrome in a Thai male. Presented at the Third Asian Dermatological
Congress, January 15-17, at the Hong Kong Convention and Exhibition
Centre, Hong Kong (Abstact No. C 15, p 100)
40. , , , . Hereditary
nonpolyposis colorectal cancer:
. 10,
, , 19-22 2537 (: ,
123)
41. Nitiyanant W, Sriussadaporn S, Vannasaeng S, Sirinavin C, Plengvidhya N,
Piraphadist T, Vichayanrat A. Causes of short stature: study in an endocrine
clinic. Presented at the International Symposium on Growth Hormone
and Growth Factors in Endocrinology and Metabolism, Gothenburg,
October 21-22, 1994.
42. , , , , , .
hereditary non-polyposis.
10,
, , 19-21 2540
(: 10
219)
43. , , , .
Molecular genetic study of dystrophin gene and linked dinucleotide repeat
polymorphisms.
11, , 6-8 2542
( 11
, )
32

44. , , , ,
. Duchenne/Becker muscular
dystrophy linkage STR haplotype.
11,
, 6-8 2542 (:
11 , )
45. , , , ,
, . Polycystic kidney disease
1 (PKD1) .
11,
, 6-8 2542 (
11 , 26, :
, , .
11 , 6-8 2542,
, . , 2543:145-8.)
46. , , , ,
. DNA linkage PKD1
autosomal dominant.
11,
, 6-8 2542 (: 11
, 64, : ,
, . 11
, 6-8 2542,
, . , 2543:126-31.)

33

47. , , , .
.
11,
, 6-8 2542 (:
11 , 54. :
, , .
11 , 6-8 2542,
, . , 2543:114-8.)
48. Sirinavin C, Sriussadaporn S, Nitiyanant W, Tantiwong A, Soontrapa S,
Limwongse C, Ploybutr S, Treesucon A. Intersex disorders in Thai adolescents
and adults. The 10th Congress of Asean Federation of
Endocrine Societies, , , 1-4 2542.
( : J Asean Fed Endocrine Soc 2000;18(1)Suppl:87.)
49. Sirinavin C, Limwongse C, Yenchitsomanus P. Molecular genetic diagnosis:
appropriate use of the technology. .
6-10 2544 ,
149-50.
50. Chintana Sirinavin, Pornchai Matangkasombut, Prapon Wilairat. Medicine
in the post-genomic era. Abstracts, Siriraj Scientific Congress, March 5-9,
2001, p 67-8.
51. , , , .
(Gender verification by PCR
amplification from hair-root DNA). : .
11 2542,
, ,
, ,
6-8 2542, 114-8.
34

52. , , , ,
. DNA linkage PKD1
autosomal dominant (DNA linkage analysis in Thai
families with autosomal dominant polycystic kidney disease [ADPKD]). :
. 11
2542, ,
,
, 6-8 2542, 126-31.
53. , , , ,
, . polycystic kidney disease
(PKD1) (Mutations causing RNA
processing defects in polycystic kidney disease 1 [PKD1] gene). :
. 11,
, ,
,
, 6-8 2542, 145-8.
54. , , , ,
, , . germline
mutation VHL von Hippel-Lindau.
12, , 28-30
2544 , 243-8.
55. , , , ,
, .
PKD1 .
12, , 28-30 2544
, 253-8.

35

56. , , , ,
, , , .
polycystic kidney disease 1 (PKD1) . :
(Genetics: Gene Revolution Era).
12, ,
, ,
, 28-30 2544,
313-20.
57. C Sirinavin, O Thongtang, C Komoltri, C Mahasandana, T Ruchutrakool,
C Limwongse. Psychosocial impact of hemophilia A on Thai families.
Presented at The XXVIth International Congress of the World Federation
of Hemophilia. October 17 to 21, 2004, Bangkok, Thailand. Published in
Haemophilia 2004;10(Suppl 3):125.
58. C Kanjanakorn, W Thongnoppakhunm, N Pukaroon, P-T Yenchitsomanus,
P Pung-amritt, A Treesucon, C Mahasandana, T Ruchutrakool, C Sirinavin,
C Limwongse. Mutation analysis of the factor VIII gene and possible
ancestral W2229S mutation in Thai haemophilia families. Presented at
The XXVIth International Congress of the World Federation of
Hemophilia. October 17 to 21, 2004, Bangkok, Thailand. Published in
Haemophilia 2004;10(Suppl 3):75.
59. Chintana Sirinavin, Chanin Limwongse, Ekkapong Roothumnong, Wanna
Thongnoppakhunm, Orapun Thongtang, Narong Lert-akayamanee.
Genetic counseling and molecular testing in a large Thai kindred with
hereditary nonpolyposis colorectal cancer.
2548, 2548;57(Suppl 1):45.

36

. / online
1. Sirinavin C, Trowbridge AA. Dyskeratosis congenita: clinical features and
genetic aspects. Report of a family and review of the literature. J Med
Genet 1975;12:339-54.
2. Trowbridge AA, Sirinavin C, Linman JW. Dyskeratosis congenita: hematologic
evaluation of a sibship and review of the literature. Am J Hematol
1977;3:143-52.
3. Sirinavin C, Lovrien EW. Familial multiple glomus tumors. Birth Defects
1977;14(3B):225-6.
4. Sirinavin C, Buranasiri P, Songsaeng A. Craniometaphyseal dysplasia: a case
report. J Med Assoc Thai 1979;62:448-58.
5. Sirinavin C, Kiratihatayakorn S, Nimmannit S, Isragrisil S, Vidhayakom S.
Split-hand and split-foot deformity: report of a family with 16 affected
individuals in three generations. J Med Assoc Thai 1980;63:121-9.
6. Vichayanrat A, Sirinavin C, Vannasaeng S, Tandhanand S. Familial growth
hormone deficiency. J Med Assoc Thai 1981;64:519-26.
7. Sirinavin C, Limsila T, Thongtang V, Gherunpong C, Fucharoen S. Hereditary
hemorrhagic telangiectasia and pulmonary arteriovenous fistula. J Med
Assoc Thai 1982;65:283-94.
8. Sirinavin C, Buist NRM, Mokkhaves P. Digital clubbing, hyperhidrosis,
acro-osteolysis and osteoporosis: a case resembling pachydermoperiostosis. Clin Genet 1982;22:83-9.
9. Twells R, Yenchitsomanus P, Sirinavin C, Allotey R, Poungvarin N,
Viriyavejakul A, Cemal C, Weber J, Farrall M, Rodprasert P, Prayoonwiwat
N, Williamson R, Chamberlain S. Autosomal dominant cerebellar ataxia
with dementia: evidence for a fourth disease locus. Hum Mol Genet
1994;3:177-80.

37

10. Sirinavin C. Medical Genetics in Thailand. Southeast Asian J Trop Med

Public Health 1995;26(Suppl 1):26-33.
11. Thongnoppakhun W, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C,
Yenchitsomanus P. A novel splice-acceptor site mutation (IVS13-2A>T) of
polycystic kidney disease 1 (PKD1) gene resulting in RNA processing defect
with 74-nucleotide deletion in exon 14 of the mRNA transcript. Hum
Mutat 2000;15(1);115. (Online Mutation in Brief #281)
12. Rungroj N, Thongnoppakhun W, Vareesangthip K, Sirinavin C, Wilairat P,
Yenchitsomanus, P. Molecular defect of PKD1 gene resulting in abnormal
RNA processing in a Thai family. J Med Assoc Thai 2001;84:1308-16.
13. Thongnoppakhun W, Limwongse C, Vareesnagthip K, Sirinavin C, Banditworapoom D, Rungroj N, Yenchitsomanus P. Novel and de novo PKD1
mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP). BMC Medical Genetics, 2004, 5:2.
(Online electronic version: http://www. biomecentral.com/1471-2350/5/2).
. /
1. , , .
. : , 2524.
. .
250-9.
. . 260-5.
. : .
270-81.
2. , , , ,
. . : ,
2544.
38

 , . . .
3-9.
, . :
. 10-27.
, , , .
: . 45-56.
, .
: . 281-94.
, .
: . 295-302.
, . :
. 354-71.
, . :
. 372-8.
3. , . -
. : , 2547.
4. , , ,
, . -
. : , 2547.
, . . 14-29.
, . . 30-59.
, , .
. 60-79.
, , , ,
. . 80-94.
, .
. 95-110.

39

 , .
. 111-54.
, . .
177-186.
5. , . . :
, 2549.
.
1. ( 11 ).
2. 29
1) . I. Human chromosomes, II. Chromosome abnormalities
(33 )
2) . Chromosome disorders (12 )
3) . Down syndrome (14 )
4) . Turner syndrome (20 )
5) . Turner syndrome patients as adults (60 )
6) , , . Klinefelter

syndrome (90 )
7) . Mendelian disorders (32 )
8) , , , .

The "new light" on Marfan syndrome (90 )
9) , , . Annulo-aortic

ectasia in Marfan syndrome (60 )
10) , , , .

Marfan syndrome - orthopedic complications (60 )
11) , , , .

The time bomb and genetic dilemma - Huntington disease (90 )
40

12)

























24)

, . Neurofibromatosis Updates
(60 )
, , , .
Adult polycystic kidney disease - a new look at an old disease
(90 )
. Autosomal dominant polycystic kidney disease:
genetic updates and approach (30 )
, , ,
. Hereditary hemorrhagic telangiectasia and recurrent brain
abscesses (90 )
, , . Familial cancer
and cancer family syndrome (hereditary non-polyposis colorectal
cancer) (60 )
, , . X-linked
muscular dystrophies and the "new genetics" - Duchenne and
Becker muscular dystrophies (60 )
. Carrier detection in Duchenne/Becker muscular
dystrophy and hemophilia A (60 )
, . Short stature (26 )
, . Intersex (22 )
, , . True hermaphrodite
(65 )
. -
(45 )
. Genetic counseling in autosomal recessive disorder
(Oculocutaneous albinism - tyrosinase-negative type) (23 )
. The saga of Machado-Joseph disease in a
northeastern village.
41

25)






29)

, . Sex passport and disorder of

sexual differentiation.
, , . Living with EhlersDanlos syndrome.
, . .
(10 )
, . "". (7 )
Neil RM Buist, . Inborn Errors of Metabolism: clinical
approach.

. ()
1. autosomal dominant

1. , , , .
. :
, 2536.
. : . 1-3.
. .
26-36.
2. , , .
autosomal dominant: .
:
, 2539.
. : autosomal dominant.
4-6.
. autosomal dominant:
. 17-26.
42

2. , , ,


:
:
:
:

:
:
:

3. , , ,
, ,
/




: II.
.
1. , , .
. : 1 -, .. 2526,
2 , .. 2532.
. : ,
2 1-4.

43

 . , 2 13-23.
. , 2 24-38.
. , 2
39-56.
2. , , , .
. : , 2532 ().
, .
. 1-10.
3. , . . :
, .. 2537 (), 2 .. 2549
().
.
1. , . (Interviewing and History Taking) (8 )
2. , , . /
(Comprehensive Physical Examination) (version) 1.3, .. 2549,
.
.
1. . .
2535;4(9):13-5.
2. , , , ,
, , , ,
.
.
4, ,
2544.
44

.
1. , . -. :
, 2528.
2. , . . :
, 2529.
3. , . , ,
, . : . :
, 2531.
4. , . .
() .
. :
, 2553.
5. . .
, . . :
, 2554, 436-45.
6. . .
, . . :
, 2554, 954-65.
7. , . CD-ROM
, . :
, 2534.
8. , . ... (From DNA to Genomics).

50 , . :
, , 2546.

45

.
1. , , , ,
, . "
" , ,
.
: . .. 2525,
2 .. 2533
.
1. , , 2524-2525.
2. , , 2529- 2530.
( ,
, , .. 2529; , , , ,
, , , , .. 2530 11 ).
3. . , 2532 - 2533.
4. . , 2539

46