Table 1 Carrier frequencies of genetic diseases identified in 114 genes of 1,642 unrelated Thai individuals (Bold text: carrier frequency ≥ 1/250)

1.Hemolytic disorders with positive selection from malaria (518)

HBB

β-thalassemia

AR

321

6

19.55 (17.7–21.54)

G6PD

Glucose-6-phosphate dehydrogenase deficiency

X-linked

127

13^a

7.73 (6.5–9.1)^a

HBA2

ɑ-Thalassemia1

AR

65

26

3.96 (3.12–5.01)

HBA1

ɑ-Thalassemia2

AR

5

329

0.3 (0.13–0.7)

2.Inherited metabolic disorders (142)

GBA

Gaucher disease, type I

AR

27

61

1.64 (1.13–2.38)

AGXT

Hyperoxaluria, primary type I, II

AR

18

92

1.1 (0.7–1.73)

ATP7B

Wilson disease

AR

17

97

1.04 (0.65–1.66)

PAH

Phenylketonuria

AR

13

127

0.79 (0.46–1.35)

CYP27A1

Cerebrotendinous xanthomatosis

AR

7

235

0.43 (0.21–0.88)

ABCD1

Adrenoleukodystrophy (ALD)

X-linked

5

329^a

0.3 (0.13–0.71)^a

GAA

Glycogen storage disease, type II (Pompe disease)

AR

4

411

0.24 (0.09–0.62)

PMM2

Carbohydrate-deficient glycoprotein syndrome type Ia

AR

4

411

0.24 (0.09–0.62)

TYR

Oculocutaneous albinism type 1A and 1B

AR

4

411

0.24 (0.09–0.62)

ALPL

Hypophosphatasia, adult, childhood and infantile

AR

3

548

0.18 (0.06–0.53)

FMO3

Trimethylaminuria

AR

3

548

0.18 (0.06–0.53)

MMACHC

Methylmalonic aciduria with homocystinuria cblC type

AR

3

548

0.18 (0.06–0.53)

ARSA

Metachromatic leukodystrophy

AR

2

821

0.12 (0.03–0.44)

CBS

Homocystinuria, B6 responsive and nonresponsive

AR

2

821

0.12 (0.03–0.44)

DHCR7

Smith–Lemli–Opitz syndrome

AR

2

821

0.12 (0.03–0.44)

DLD

Dihydrolipoamide dehydrogenase deficiency

AR

2

821

0.12 (0.03–0.44)

FAH

Tyrosinemia type I

AR

2

821

0.12 (0.03–0.44)

FKRP

Muscular dystrophy–dystroglycanopathy, type A, 5, type B, 5

AR

2

821

0.12 (0.03–0.44)

FKTN

Cardiomyopathy;dilated;1X, Walker–Warburg congenital muscular dystrophy

AR

2

821

0.12 (0.03–0.44)

GALT

Galactosemia

AR

2

821

0.12 (0.03–0.44)

GBE1

Glycogen storage disease;type IV, GBE1-related disorders

AR

2

821

0.12 (0.03–0.44)

MMUT

Methylmalonic aciduria–methylmalonyl–CoA mutase deficiency

AR

2

821

0.12 (0.03–0.44)

POLG

Mitochondrial DNA depletion syndrome 4A,4B

AR

2

821

0.12 (0.03–0.44)

ACADM

Medium-chain acyl-coenzyme A dehydrogenase deficiency

AR

1

1642

0.06 (0.01–0.34)

ACAT1

ɑ-Methylacetoacetic aciduria

AR

1

1642

0.06 (0.01–0.34)

ALDOB

Hereditary fructosuria

AR

1

1642

0.06 (0.01–0.34)

BTD

Biotinidase deficiency

AR

1

1642

0.06 (0.01–0.34)

CPT2

Carnitine palmitoyltransferase II deficiency, infantile, lethal neonatal

AR

1

1642

0.06 (0.01–0.34)

GNPTAB

Mucolipidosis type II alpha/beta

AR

1

1642

0.06 (0.01–0.34)

HEXA

Tay–Sachs disease

AR

1

1642

0.06 (0.01–0.34)

HPS1

Hermansky Pudlak S. 1

AR

1

1642

0.06 (0.01–0.34)

IDUA

Mucopolysaccharidosis, Ih (Hurler S), Ih/s (Hurler–Scheie S)

AR

1

1642

0.06 (0.01–0.34)

MCCC2

3-methylcrotonyl CoA carboxylase 2 deficiency

AR

1

1642

0.06 (0.01–0.34)

OTC

Ornithine transcarbamylase deficiency

X-linked

1

1642^a

0.06 (0.01–0.34)^a

RARS2

Pontocerebellar hypoplasia type 6

AR

1

1642

0.06 (0.01–0.34)

3.Other (123)

SLC26A4

Deafness autosomal recessive 4, Pendred syndrome

AR

18

92

1.1 (0.7–1.73)

CFTR

Cystic fibrosis

AR

16

103

0.97 (0.6–1.58)

USH2A

Usher syndrome, type 2A

AR

16

103

0.97 (0.6–1.57)

NEB

Nemaline myopathy 2

AR

12

137

0.73 (0.42–1.27)

GJB2

Nonsyndromic hearing loss recessive 1A, Nonsyndromic hearing loss dominant 3A

AR

9

183

0.55 (0.29–1.04)

MCPH1

Primary microcephaly 1, recessive

AR

8

206

0.49 (0.25–0.96)

CEP290

Joubert syndrome 5, Leber congenital amaurosis 10

AR

7

235

0.43 (0.21–0.88)

CLCN1

Congenital myotonia, autosomal recessive form

AR

7

235

0.43 (0.21–0.88)

PKHD1

Autosomal recessive polycystic kidney disease

AR

7

235

0.43 (0.21–0.88)

AIRE

Autoimmune polyendocrinopathy syndrome type I

AR

5

329

0.3 (0.13–0.7)

BBS2

Bardet–Biedl syndrome 2, Retinitis pigmentosa 74

AR

3

548

0.18 (0.06–0.53)

EVC2

Chondroectodermal dysplasia

AR

3

548

0.18 (0.06–0.53)

ABCC8

Diabetes mellitus, permanent neonatal 3

AR

2

821

0.12 (0.03–0.44)

CC2D2A

Joubert syndrome 9, Meckel syndrome 6

AR

2

821

0.12 (0.03–0.44)

DYNC2H1

thoracic dysplasia 3 with or without polydactyly

AR

2

821

0.12 (0.03–0.44)

ERCC2

Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1;photosensitive

AR

1

1642

0.06 (0.01–0.34)

FANCC

Fanconi anemia, complementation group C

AR

1

1642

0.06 (0.01–0.34)

NPHS1

Finnish congenital nephrotic syndrome

AR

1

1642

0.06 (0.01–0.34)

PCDH15

Deafness, autosomal recessive 23,Usher syndrome;type 1F

AR

1

1642

0.06 (0.01–0.34)

PRF1

Hemophagocytic lymphohistiocytosis, familial, 2

AR

1

1642

0.06 (0.01–0.34)

XPC

Xeroderma pigmentosum

AR

1

1642

0.06 (0.01–0.34)