[关键词]
[摘要]
目的：通过分子遗传学分析，确定中国东北地区一个先天性卵黄样黄斑营养不良家系在
BEST-1基因的突变位点。
方法： 采集一先天性卵黄样黄斑营养不良家系2例患者及5例健康成员和100个正常对照者的外周静脉血，提取基因组DNA。应用聚合酶链反应(PCR)扩增BEST-1基因的10个编码外显子，直接测序确定致病的基因突变，并与100名正常对照者的基因筛查结果进行比较。
结果：直接测序后发现该先天性卵黄样黄斑营养不良家系BEST-1基因的外显子中，未发现任何突变。
结论：BEST-1基因的外显子不存在该先天性卵黄样黄斑营养不良家系的致病突变。
[Key word]
[Abstract]
AIM: To identify intragenic mutation loci of the
BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.
METHODS:Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST-1 amplified by polymerase chain reaction(PCR)were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls.
RESULTS:After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy.
CONCLUSION:There is no mutation in the exons of BEST-1 gene causing disease genes in this family.
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[基金项目]
