Screening of SLC25A13 mutation in the Thai population

Table 1 Number of individuals with SLC25A13 mutations and carrier prevalence in the Thai population according to geographical distribution

Region	Mutation [I] (c.851_854delGTAT)	Mutation XIX (g.IVS16ins3kb)	p.Met1?	Total carriers (p.Met1? not included)	Total carriers (p.Met1? included)
Bangkok (n = 142)	2 (1/71)1	2 (1/71)	5 (1/28)1	4 (1/36)	8 (1/18)1
Central (n = 387)	0	3 (1/129)	17 (1/23)	3 (1/129)	20 (1/19)
Northeastern (n = 498)	4 (1/125)	0	27 (1/18)	4 (1/125)	31 (1/16)
Northern (n = 291)	1 (1/291)	3 (1/97)	21 (1/14)	4 (1/74)	25 (1/12)
Southern (n = 219)	1 (1/219)	1 (1/219)	15 (1/15)	2 (1/110)	17 (1/13)
Total (n = 1537)	8 (1/192)	9 (1/171)	85 (1/18)	17 (1/90)	101 (1/15)
P value2	0.18	0.067	0.366	NA	0.413

¹One individual was found with compound heterozygote of Mutation [I] (c.851_854 delGTAT) and p.Met1?;

²Statistical analysis using Fischer’s Exact test giving P value for comparison of the carrier prevalence identified across the regions. NA: Not available.

Table 2 Frequency of SLC25A13 mutations in population studies

Mutation		Number of carriers (allele frequency)
		Japanese[21]	Japanese[13,14]	Korean[13]	Chinese[13]	Thai (present study)
I	851del4	4 (0.48)	4 (0.15)	11 (0.22)	45 (0.54)	8 (0.26)
II	IVS11 + 1G > A	3 (0.36)	9 (0.33)	8 (0.16)	0 (0.00)	0 (0.00)
III	1638ins23	0 (0.00)	1 (0.04)	1 (0.02)	3 (0.04)	0 (0.00)
IV	S225X	0 (0.00)	5 (0.18)	0 (0.00)	0 (0.00)	0 (0.00)
V	IVS13 + 1G > A	2 (0.24)	1 (0.04)	0 (0.00)	0 (0.00)	0 (0.00)
VII	R605X	0 (0.00)	0 (0.00)	2 (0.04)	0 (0.00)	NA
VIII	E601X	1 (0.12)	0 (0.00)	0 (0.00)	0 (0.00)	0 (0.00)
X	IVS6 + 5G > A	0 (0.00)	0 (0.00)	0 (0.00)	15 (0.18)	NA
XI	R184X	0 (0.00)	0 (0.00)	0 (0.00)	1 (0.01)	NA
XIX	IVS16ins3kb	0 (0.00)	1 (0.04)	NA	NA	9 (0.29)
	p.Met1?	NA	NA	NA	NA	85 (2.77)
	n	420	1372	2455	4169	1537
p.Met1? not included
	Number of carriers	10	20	22	64	17
	Carrier rate	1/42	1/65	1/112	1/65	1/90
	Homozygote rate	1/7100	1/17000	1/50000	1/17000	1/33000
p.Met1? included
	Number of carriers	NA				101
	Carrier rate					1/15
	Homozygote rate					1/900

NA: Not available.