CAJ | 학술논문

目的：应用基因测序的方法，对一个致病基因已定位于MYP1位点的X-连锁隐性遗传高度近视家系进行基因筛查，探索ZNF185基因与该家系的相关性。方法收集家系中28人临床资料并采集10例患者及18例家系正常成员的外周血，提取基因组DNA，采用PCR扩增ZNF185基因的全部22个外显子及外显子与内含子交界区域，用直接双向测序、BLAST比对进行突变分析。结果对ZNF185基因直接测序发现了4个变异序列（3947C>T、6054G>A、7566T>C、17462delcccactgttcc）均属于基因非编码区SNP（rs733359、rs2071258、rs2071259、rs66958885），所有变异序列均存在于患者及其部分正常亲属中，与疾病表型无共分离现象。结论排除了ZNF185基因外显子突变导致该家系高度近视的可能性。
목적：응용기인측서적방법，대일개치병기인이정위우MYP1위점적X-련쇄은성유전고도근시가계진행기인사사，탐색ZNF185기인여해가계적상관성。방법수집가계중28인림상자료병채집10례환자급18례가계정상성원적외주혈，제취기인조DNA，채용PCR확증ZNF185기인적전부22개외현자급외현자여내함자교계구역，용직접쌍향측서、BLAST비대진행돌변분석。결과대ZNF185기인직접측서발현료4개변이서렬（3947C>T、6054G>A、7566T>C、17462delcccactgttcc）균속우기인비편마구SNP（rs733359、rs2071258、rs2071259、rs66958885），소유변이서렬균존재우환자급기부분정상친속중，여질병표형무공분리현상。결론배제료ZNF185기인외현자돌변도치해가계고도근시적가능성。
Objective This present study was conducted to investigate whether ZNF185 is associated with X-linked recessive high myopia in a Chinese Han family, which has been confirmed to be responsible for MYP1. Methods The clinical data and genome DNA of ten patients and eighteen unaffected relatives of the family were collected with Twenty-two exons of ZNF185, including intron/exon boundarie, were amplified by polymerase chain reaction(PCR)and the PCR products were subjected to automatic DNA sequencing. Results Four untranslated region SNPs were found in this pedigree, which did not co-segregate with the disease phenotype in this family. Conclu-sions Mutation in exons of ZNF185 is excluded as a pathogenic cause for high myopia in this family.