The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population

Figures & data

Figure 1 Gel electrophoresis of c.-1031G>A polymorphism.

Notes: PCR fragments (202 bp) were restricted with HaeIII enzyme. Samples in lanes 1–3 and 5–7 represents heterozygous GA genotype. Sample in lane 4 represents homozygous AA genotype.

Figure 2 Gel electrophoresis of c.-912T>C polymorphism.

Notes: PCR fragments (202bp) were restricted with MseI enzyme. Sample in lane 1 represents heterozygous CT genotype. Samples in lane 2, 4–7 represent homozygous TT genotype. Sample in lane 3 represents CC genotype.

Table 1 Aspects of population studied

Family characteristics	N (%)
Gender
Male	33 (45.8)
Female	39 (54.2)
Average age (years)	20.88
Number of teeth missing
1	28 (38.9)
2	32 (44.4)
3 or more	12 (16.7)
Type of teeth more often missing (total teeth missing =164)
Central incisor	30 (18.3)
Lateral incisor	74 (45.1)
Canines	10 (6.1)
First premolar	4 (2.4)
Second premolar	36 (22)
First molar	4 (2.4)
Second molar	6 (3.7)

Table 2 Genotype and allele frequencies of PAX c.-1031G>A polymorphism in the Jordanian population

	Control subjects		Hypodontia subjects		P-value
	n	%	n	%
AA	43	59.7	27	37.5	<0.001a
GA	28	38.9	35	48.6
GG	1	1.4	10	13.9
Allele A	114	79.2	89	61.8
Allele G	30	20.8	55	38.2

Notes:

a Fisher’s exact test.

b Chi-squared test.

Table 3 Genotype and allele frequencies of PAX9 c.-912T>C polymorphism in the Jordanian population

	Control subjects		Hypodontia subjects		P-value
	n	%	n	%
CC	3	4.2	3	4.2	<0.01a
CT	24	33.3	1	1.4
TT	45	62.5	68	94.4
Allele C	30	20.8	7	4.9	<0.01b
Allele T	114	79.2	137	95.1

Notes:

a Fisher’s exact test.

b Chi-squared test.

Table 4 Mutations and polymorphisms in PAX9 gene that has been shown to cause tooth agenesis

Mutation/polymorphism	Type of mutation	Amino acid change	Reference
219 Ins G	Frame shift	G73fsX316	^Citation12
c.340A>T	Nonsense	K114X	^Citation29
c.793insC	Frame shift	A264fsX315	^Citation22
Deletion of gene	Del	L21P	^Citation10
c.62T>C	Missense	R26W	^Citation9
c.76C>T	Missense	G51S	^Citation26
c.151G>A	Missense	A58fsX177	^Citation21
c.176ins288nt	Frame shift	K91E	^Citation9
c.271A>G	Missense	R28P	^Citation9
c.83G>C	Missense	I37fsX41	^Citation23
c.109insG	Frame shift	R47W	^Citation27
c.139C>T	Missense	G73fsX316	^Citation27
c.219insG	Frame shift	M1V	^Citation27
c.1A>G	Missense	I87F	^Citation24
c.259A>T	Missense	I207fsX211	^Citation16
c.619–621delATCins24nt	Frame shift	Q145X	^Citation21
c.433C>T	Nonsense	R59X	^Citation28
c.175C>T	Nonsense		^Citation30
c.-915G>C	SNP		^Citation14
c.-912T>Cc.-1031G>A	SNPSNP		13, 20, this study

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