基因检测在Ⅳ型埃勒斯-当洛综合征诊断中的意义

目的 埃勒斯-当洛综合征(Ⅳ型)是临床罕见病例,诊断困难,基因检测技术可明确该病诊断.方法 设计Col3A1基因引物,提取患者外周血标本DNA,PCR扩增后行测序分析碱基突变点,确认氨基酸变化位置,结合临床特征进行疾病诊断.结果 患者Col3A1基因外显子30的第2209个碱基及内含子15的第327碱基出现套峰.在2209位碱基出现G-A的突变,造成第698个氨基酸变化,由丙氨酸(Ala)改变为苏氨酸(Thr),即:P.A698T(c.2209G＞A),突变来源于先证者家系.结论 基因检测可以明确埃勒斯-当洛综合征诊断,对临床有指导意义.

Abstract：

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.