CAJ | 학술논문

目的：利用定量荧光PCR（QF-PCR）技术研究天津汉族胎儿18号染色体上D18S53、D18S59和D18S4883个短串联重复序列（STR）基因座遗传多态性，为18-三体综合征（ES）的产前基因诊断提供实验依据。方法收集天津地区64例绒毛和374例羊水样本，利用QF-PCR扩增STR基因座，4%聚丙烯酰胺凝胶电泳，ABI PRISM 377自动测序仪扫描电泳图，GeneScan软件分析荧光信号定量。根据3个STR基因座的基因型分布进行H-W平衡检验。计算3个STR基因座基因型频率、观察杂合度（Ho）、多态信息量（PIC）、个体识别率（DP）、非父排除率（PE）等群体遗传学数据。结果 D18S53、D18S59和D18S4883个STR基因座分别检出15、13、15个等位基因，基因型分布均符合H-W平衡定律。3个基因座的Ho分别为0.797、0.847和0.792；PIC分别为0.81、0.75和0.73；DP分别为0.944、0.901和0.881；PE分别为0.593、0.689和0.585。结论 D18S53、D18S59和D18S4883个STR基因座是18号染色体良好的遗传标记，对ES的产前基因诊断有指导意义。
목적：이용정량형광PCR（QF-PCR）기술연구천진한족태인18호염색체상D18S53、D18S59화D18S4883개단천련중복서렬（STR）기인좌유전다태성，위18-삼체종합정（ES）적산전기인진단제공실험의거。방법수집천진지구64례융모화374례양수양본，이용QF-PCR확증STR기인좌，4%취병희선알응효전영，ABI PRISM 377자동측서의소묘전영도，GeneScan연건분석형광신호정량。근거3개STR기인좌적기인형분포진행H-W평형검험。계산3개STR기인좌기인형빈솔、관찰잡합도（Ho）、다태신식량（PIC）、개체식별솔（DP）、비부배제솔（PE）등군체유전학수거。결과 D18S53、D18S59화D18S4883개STR기인좌분별검출15、13、15개등위기인，기인형분포균부합H-W평형정률。3개기인좌적Ho분별위0.797、0.847화0.792；PIC분별위0.81、0.75화0.73；DP분별위0.944、0.901화0.881；PE분별위0.593、0.689화0.585。결론 D18S53、D18S59화D18S4883개STR기인좌시18호염색체량호적유전표기，대ES적산전기인진단유지도의의。
Objective To investigate the genetic polymorphisms of 3 short tandem repeat (STR) loci D18S53, D18S59 and D18S488 on chromosome 18 in fetus of Tianjin Han population, and to provide basic data in the use of 3 STR lo-ci in the prenatal diagnosis of Edward syndrome (ES). Methods A total of 64 villus samples and 374 amniotic fluid sam-ples were collected from gravida in Tianjin Han population. QF-PCR and ABI PRISM 377 sequence were used in this study. The frequencies of the genotypes were tested with H-W equilibrium. Genetic analysis was performed to conclude some data of population genetics such as the frequency of the alleles, the heterozygosity of observation (Ho), the polymorphism informa-tion content (PIC), the probability of discrimination power (DP), and the probability of exclusion (PE). Results The 15, 13 and 15 alleles of D18S53, D18S59 and D18S488 were observed respectively. The frequencies of the genotypes were in good agreement with H-W equilibrium. The Ho of 3 STR loci were 0.797, 0.847 and 0.792. The PIC was 0.81, 0.75 and 0.73. The DP was 0.944, 0.901 and 0.881. The PE was 0.593, 0.689 and 0.585. Conclusion D18S53, D18S59 and D18S488 STR lo-ci were the favorable genetic markers of chromosome 18, which can be used in prenatal genetic diagnosis of ES.