CAJ | 학술논문

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。
목적：통과분자유전학분석，학정중국동북지구일개선천성란황양황반영양불량가계재 BEST-1기인적돌변위점。 　　방법：채집일선천성란황양황반영양불량가계2례환자급5례건강성원화100개정상대조자적외주정맥혈，제취기인조DNA。응용취합매련반응( PCR )확증BEST-1기인적10개편마외현자，직접측서학정치병적기인돌변，병여100명정상대조자적기인사사결과진행비교。결과：직접측서후발현해선천성란황양황반영양불량가계BEST-1기인적외현자중，미발현임하돌변。 　　결론：BEST-1기인적외현자불존재해선천성란황양황반영양불량가계적치병돌변。
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.