天津医药
天津醫藥
천진의약
TIANJIN MEDICAL JOURNAL
2015年
1期
12-16
,共5页
张娜%史云芳%李晓洲%李岩%琚端%辛力%姚静怡%谢晓媛%刘殿芹%杨晓惠%岳天孚%张颖
張娜%史雲芳%李曉洲%李巖%琚耑%辛力%姚靜怡%謝曉媛%劉殿芹%楊曉惠%嶽天孚%張穎
장나%사운방%리효주%리암%거단%신력%요정이%사효원%류전근%양효혜%악천부%장영
X染色体%串联重复序列%多态现象,遗传%天津%汉族%HPRTB%DXS6803%DXS6809%STR基因座%定量荧光聚合酶链反应
X染色體%串聯重複序列%多態現象,遺傳%天津%漢族%HPRTB%DXS6803%DXS6809%STR基因座%定量熒光聚閤酶鏈反應
X염색체%천련중복서렬%다태현상,유전%천진%한족%HPRTB%DXS6803%DXS6809%STR기인좌%정량형광취합매련반응
X chromosome%tandem repeat sequences%polymorphism,genetic%Tianjin%Han nationality%HPRTB%DXS6803%DXS6809%STR loci%quantitative fluorescence polymerase chain reaction
目的：研究天津汉族女性人群HPRTB、DXS6803和DXS6809 STR基因座的遗传多态性，为快速产前诊断X染色体数目异常提供实验依据。方法收集150例无亲缘关系天津汉族女性外周血样本，应用QF-PCR扩增HPRTB、DXS6803和DXS6809 STR基因座、毛细管电泳检测扩增产物、ABI Prism GeneMapper v3.0软件分析数据，从每个基因座中挑选2个纯合子进行测序、命名。采用χ2检验验证3个STR基因座基因型分布是否符合Hardy-Wein?berg平衡定律。用PowerStatsV12软件分析STR基因座的群体遗传学数据。结果150例样本均在24 h内扩增成功。HPRTB、DXS6803和DXS6809 STR基因座分别检出10、6、10个等位基因和22、12、29种基因型，其最常见等位基因分别是14、13、14，出现频率最高的基因型分别是14-14、12-13和13-14。基因型分布均符合Hardy-Weinberg平衡定律（χ2分别为10.554、5.783和15.355，均P＞0.05）。3个基因座的He分别为0.748、0.649、0.806，Ho分别为0.607、0.700、0.713，PIC分别为0.706、0.599、0.775，PD分别为0.894、0.814、0.931，PE分别为0.299、0.428、0.449。结论 HPRTB、DXS6803和DXS6809 STR基因座在天津汉族女性人群具有高杂合度、高遗传信息量，是X染色体良好的遗传标记，可用于X染色体数目异常的快速产前诊断。
目的：研究天津漢族女性人群HPRTB、DXS6803和DXS6809 STR基因座的遺傳多態性，為快速產前診斷X染色體數目異常提供實驗依據。方法收集150例無親緣關繫天津漢族女性外週血樣本，應用QF-PCR擴增HPRTB、DXS6803和DXS6809 STR基因座、毛細管電泳檢測擴增產物、ABI Prism GeneMapper v3.0軟件分析數據，從每箇基因座中挑選2箇純閤子進行測序、命名。採用χ2檢驗驗證3箇STR基因座基因型分佈是否符閤Hardy-Wein?berg平衡定律。用PowerStatsV12軟件分析STR基因座的群體遺傳學數據。結果150例樣本均在24 h內擴增成功。HPRTB、DXS6803和DXS6809 STR基因座分彆檢齣10、6、10箇等位基因和22、12、29種基因型，其最常見等位基因分彆是14、13、14，齣現頻率最高的基因型分彆是14-14、12-13和13-14。基因型分佈均符閤Hardy-Weinberg平衡定律（χ2分彆為10.554、5.783和15.355，均P＞0.05）。3箇基因座的He分彆為0.748、0.649、0.806，Ho分彆為0.607、0.700、0.713，PIC分彆為0.706、0.599、0.775，PD分彆為0.894、0.814、0.931，PE分彆為0.299、0.428、0.449。結論 HPRTB、DXS6803和DXS6809 STR基因座在天津漢族女性人群具有高雜閤度、高遺傳信息量，是X染色體良好的遺傳標記，可用于X染色體數目異常的快速產前診斷。
목적：연구천진한족녀성인군HPRTB、DXS6803화DXS6809 STR기인좌적유전다태성，위쾌속산전진단X염색체수목이상제공실험의거。방법수집150례무친연관계천진한족녀성외주혈양본，응용QF-PCR확증HPRTB、DXS6803화DXS6809 STR기인좌、모세관전영검측확증산물、ABI Prism GeneMapper v3.0연건분석수거，종매개기인좌중도선2개순합자진행측서、명명。채용χ2검험험증3개STR기인좌기인형분포시부부합Hardy-Wein?berg평형정률。용PowerStatsV12연건분석STR기인좌적군체유전학수거。결과150례양본균재24 h내확증성공。HPRTB、DXS6803화DXS6809 STR기인좌분별검출10、6、10개등위기인화22、12、29충기인형，기최상견등위기인분별시14、13、14，출현빈솔최고적기인형분별시14-14、12-13화13-14。기인형분포균부합Hardy-Weinberg평형정률（χ2분별위10.554、5.783화15.355，균P＞0.05）。3개기인좌적He분별위0.748、0.649、0.806，Ho분별위0.607、0.700、0.713，PIC분별위0.706、0.599、0.775，PD분별위0.894、0.814、0.931，PE분별위0.299、0.428、0.449。결론 HPRTB、DXS6803화DXS6809 STR기인좌재천진한족녀성인군구유고잡합도、고유전신식량，시X염색체량호적유전표기，가용우X염색체수목이상적쾌속산전진단。
Objective To investigate genetic polymorphisms of HPRTB, DXS6803 and DXS6809 STR loci in Tianjin Han female population, and to provide experimental data in the prenatal diagnosis of aneuploidies accurately and rapidly. Methods A total of 150 blood samples were collected in Tianjin Han population. QF-PCR and capillary electrophoresis were used in this study. The relevant data were analyzed by ABI Prism GeneMapper v3.0 software. Two homozygotes were se?lected from each locus for sequencing. The frequencies of the genotypes were checked using Chi-square test to verify Hardy-Weinberg Equilibrium. Data of genetic polymorphisms were calculated by PowerStatsV12 software. Results A total of 150 samples were successfully amplified in 24 hours. The 10, 6 and 10 alleles and 22, 12 and 29 genotypes were found respec?tively in HPRTB, DXS6803 and DXS6809 loci. The most common alleles were 14, 13 and 14. The higher frequencies of gen?otypes were 14-14, 12-13 and 13-14. No significant deviations from the Hardy-Weinberg equilibrium were observed in these three STR loci (χ2=10.554, 5.783 and 15.355, respectively, P>0.05). Values of He were 0.748, 0.649 and 0.806 for these three STR loci respectively. Values of Ho were 0.607, 0.700 and 0.713 respectively. Values of PIC were 0.706, 0.599 and 0.775 respectively. Values of PD were 0.894, 0.814 and 0.931 respectively. And values of PE were 0.299, 0.428 and 0.449 respectively. Conclusion HPRTB, DXS6803 and DXS6809 STR loci were highly polymorphic, which are favorable genetic markers on chromosome X and can be used in rapid prenatal genetic diagnosis.
