Application of molecular genetic technique in classification of corneal dystrophy
Application of molecular genetic technique in classification of corneal dystrophy
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发表时间：
2006
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通讯作者：
Chen Li
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作者：
Chen Li
目的探讨遗传性角膜营养不良的分子遗传学分型。方法应用聚合酶链反应-单链构象多态性（PCR-SSCP）技术检测18例乳腺癌患者BIGH 3（Human transforming growth factor beta induced）基因第4、11、12外显子，并对迁移率改变的片段进行测序，以确定基因突变。结果所有角膜营养不良患者均存在BIGH 3基因突变。BIGH 3基因R555 W突变6例。在6例病例中检测到A546 D突变。2例患者检测到R124 C突变。在2例患者中检测到T538 P突变。其中1例为A546 T突变。1例检出P501 T突变。结论PCR-SSCP和测序为遗传性角膜营养不良的基因诊断和分型提供了有用的信息。
Objective To study classification of hereditary corneal dystrophy by technique of molecualrgenetics. Methods Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) assaywas performed to examine exons 4,11,12 of BIGH3 (Human transforming grwth factor beta induced) gene in 18cases, and fragments with a mobility shift were sequenced to identify the gene mutations. Results Mutationsin BIGH3 gene were found in all patients with corneal dystrophies. The mutation R555W in the BIGH3 genewas detected in six cases. The mutation A546D was detected in six cases. The mutation R124C was detected intwo cases. The mutation T538P was detected in two cases. The mutation A546T was detected in one case. Themutation P501T was detected in one case. Conclusion The useful information is provided from PCR-SSCPand sequencing for making gene diagnosis and classification to hereditary corneal dystrophy.