[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].

[oligodontia]

To investigate the mutation in transcription factor paired box gene PAX 9 in a mongolian family with non-syndromic oligodontia .Peripheral blood was collected from 17 core family members (9 unaffected , 8 affected ) in this Mongolian family with non-syndromic oligodontia . Mutation in exons of PAX 9 gene was identified by PCR amplification and DNA sequencing .A point mutation c .87 G > C at position 87 in exon 4 of PAX 9 was identified from 8 affected members in the family , which were G /C heterozygous .W hile the 9 healthy members in the family were homozygous for C which was consistent with normal reference sequence in the GenBank (accession number : NC _000014 ).The mutation of c .87 G > C (p . Ala 240 P ro ) in exon 4 of PAX 9 was likely to cause the non-syndromic oligodontia in this Mongolian family .

Diseases
Validation

Diseases presenting "peripheral blood" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

aniridia

cohen syndrome

congenital toxoplasmosis

cutaneous mastocytosis

erdheim-chester disease

esophageal adenocarcinoma

esophageal squamous cell carcinoma

familial mediterranean fever

gm1 gangliosidosis

junctional epidermolysis bullosa

lamellar ichthyosis

monosomy 21

oligodontia

omenn syndrome

scrub typhus

severe combined immunodeficiency

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom