[Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].

Objective: To ascertain the diagnosis of such a rare disease as Ehlers-Danlos syndrome type IV by the technique of DNA(deoxyribonucleic acid)analysis.

Methods: The primer sequences of Col3A1 gene were designed. Genomic DNA was isolated from the peripheral blood samples. The amplification of polymerase chain reaction (PCR) was performed and direct sequencing used to screen the mutations. A definite diagnosis was made in conjunctions with clinical features.

Results: Two nucleotide mutations for Col3A1 were found. One was in intron 15 while another in exon 30. The latter was an important mutation of a G to A transition (c.2209G > A) resulting in alanine to threonine substitution at position (p.Ala698Thr). The mutations were inherited from proband of pedigree.

Conclusion: Genetic testing of Col3A1 mutation can facilitate an accurate diagnosis of Ehlers-Danlos syndrome.