中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2011年
10期
763-768
,共6页
吴再归%游泽山%张彩%李珠玉%苏秀梅%张秀明%李银广
吳再歸%遊澤山%張綵%李珠玉%囌秀梅%張秀明%李銀廣
오재귀%유택산%장채%리주옥%소수매%장수명%리은엄
流产,习惯性%叉头转录因子类%多态现象,遗传%T淋巴细胞,调节性%疾病遗传易感性
流產,習慣性%扠頭轉錄因子類%多態現象,遺傳%T淋巴細胞,調節性%疾病遺傳易感性
유산,습관성%차두전록인자류%다태현상,유전%T림파세포,조절성%질병유전역감성
Abortion,habitual%Forkhead transcription factors%Polymorphism,genetic%T-lymphocytes,regulatory%Genetic predisposition to disease
目的 探讨转录因子Foxp3基因多态性与原因不明复发性自然流产(URSA)易感性的关系.方法 分别采用PCR-限制性片段长度多态性技术(针对Foxp3基因的rs3761548、rs2294021位点)和PCR-等位基因特异性扩增技术(针对rs2232365、rs5902434位点),检测146例URSA患者(URSA组)和112例健康妇女(对照组)血中Foxp3基因上述4个位点的基因型分布.结果 (1)rs3761548和rs2232365位点:URSA组和对照组妇女中,rs3761548位点的3种基因型频率分别为C/C基因型10.3％、22.3％,A/C基因型38.4％、40.2％,A/A基因型51.4％、37.5％,rs2232365位点的基因型频率分别为A/A基因型5.5％、15.2％,A/G基因型47.9％、50.0％,G/G基因型46.6％、34.8％,分别比较,差异均有统计学意义(P＜0.05)；rs3761548A和rs2232365G等位基因明显增加URSA的发病风险(OR=1.73、1.61,P均＜0.05).(2)rs5902434位点:3种基因型在两组的分布分别为ATT/ATT基因型7.5％、12.5％,del/ATT基因型42.5％、50.0％,del/dei基因型50.0％、37.5％,分别比较,差异均无统计学意义(P=0.10)；但缺失型等位基因del频率URSA组明显高于对照组(分别为71.2％、62.5％；OR=1.49,P=0.04).(3) rs2294021位点:3种基因型(C/C、T/C、T/T)和T、C等位基因频率在URSA组和对照组的分布无差异(P=0.18、0.08).(4)单体型分析:del-A-G单体型明显增加URSA的发病风险(OR=2.51,P＜0.01),而del-C-G和ATT-A-A单体型则对URSA的发病具有保护作用(OR=0.18、0.22,P均＜0.01).结论 Foxp3基因的功能性多态位点可能通过改变Foxp3基因的表达或其功能而增加URSA的发病风险.
目的 探討轉錄因子Foxp3基因多態性與原因不明複髮性自然流產(URSA)易感性的關繫.方法 分彆採用PCR-限製性片段長度多態性技術(針對Foxp3基因的rs3761548、rs2294021位點)和PCR-等位基因特異性擴增技術(針對rs2232365、rs5902434位點),檢測146例URSA患者(URSA組)和112例健康婦女(對照組)血中Foxp3基因上述4箇位點的基因型分佈.結果 (1)rs3761548和rs2232365位點:URSA組和對照組婦女中,rs3761548位點的3種基因型頻率分彆為C/C基因型10.3％、22.3％,A/C基因型38.4％、40.2％,A/A基因型51.4％、37.5％,rs2232365位點的基因型頻率分彆為A/A基因型5.5％、15.2％,A/G基因型47.9％、50.0％,G/G基因型46.6％、34.8％,分彆比較,差異均有統計學意義(P＜0.05)；rs3761548A和rs2232365G等位基因明顯增加URSA的髮病風險(OR=1.73、1.61,P均＜0.05).(2)rs5902434位點:3種基因型在兩組的分佈分彆為ATT/ATT基因型7.5％、12.5％,del/ATT基因型42.5％、50.0％,del/dei基因型50.0％、37.5％,分彆比較,差異均無統計學意義(P=0.10)；但缺失型等位基因del頻率URSA組明顯高于對照組(分彆為71.2％、62.5％；OR=1.49,P=0.04).(3) rs2294021位點:3種基因型(C/C、T/C、T/T)和T、C等位基因頻率在URSA組和對照組的分佈無差異(P=0.18、0.08).(4)單體型分析:del-A-G單體型明顯增加URSA的髮病風險(OR=2.51,P＜0.01),而del-C-G和ATT-A-A單體型則對URSA的髮病具有保護作用(OR=0.18、0.22,P均＜0.01).結論 Foxp3基因的功能性多態位點可能通過改變Foxp3基因的錶達或其功能而增加URSA的髮病風險.
목적 탐토전록인자Foxp3기인다태성여원인불명복발성자연유산(URSA)역감성적관계.방법 분별채용PCR-한제성편단장도다태성기술(침대Foxp3기인적rs3761548、rs2294021위점)화PCR-등위기인특이성확증기술(침대rs2232365、rs5902434위점),검측146례URSA환자(URSA조)화112례건강부녀(대조조)혈중Foxp3기인상술4개위점적기인형분포.결과 (1)rs3761548화rs2232365위점:URSA조화대조조부녀중,rs3761548위점적3충기인형빈솔분별위C/C기인형10.3％、22.3％,A/C기인형38.4％、40.2％,A/A기인형51.4％、37.5％,rs2232365위점적기인형빈솔분별위A/A기인형5.5％、15.2％,A/G기인형47.9％、50.0％,G/G기인형46.6％、34.8％,분별비교,차이균유통계학의의(P＜0.05)；rs3761548A화rs2232365G등위기인명현증가URSA적발병풍험(OR=1.73、1.61,P균＜0.05).(2)rs5902434위점:3충기인형재량조적분포분별위ATT/ATT기인형7.5％、12.5％,del/ATT기인형42.5％、50.0％,del/dei기인형50.0％、37.5％,분별비교,차이균무통계학의의(P=0.10)；단결실형등위기인del빈솔URSA조명현고우대조조(분별위71.2％、62.5％；OR=1.49,P=0.04).(3) rs2294021위점:3충기인형(C/C、T/C、T/T)화T、C등위기인빈솔재URSA조화대조조적분포무차이(P=0.18、0.08).(4)단체형분석:del-A-G단체형명현증가URSA적발병풍험(OR=2.51,P＜0.01),이del-C-G화ATT-A-A단체형칙대URSA적발병구유보호작용(OR=0.18、0.22,P균＜0.01).결론 Foxp3기인적공능성다태위점가능통과개변Foxp3기인적표체혹기공능이증가URSA적발병풍험.
Objective To investigate the association between the functional polymorphisms of Foxp3 gene and unexplained recurrent spontaneous abortion (URSA).Methods PCR-restriction fragment length polymorphism (rs3761548,rs2294021 ) and PCR with sequence-specific primers (rs2232365,rs5902434) were used to detect four polymorphisms of Foxp3 in 146 URSA cases and 112 normal controls.Results ( 1 ) The frequencies of rs3761548A/C were 10.3％,22.3％ in genotype C/C,38.4％,40.2％ in genotype A/C and 51.4％,37.5％ in genotype A/A between URSA patients and normal controls; the frequencies of rs2232365A/G were 5.5％,15.2％ in genotype A/A,47.9％,50.0％ in genotype A/G,46.6％,34.8％ in genotype G/G between URSA patients and normal controls; they all reached statistical difference ( P＜0.05 ).The carriers of rs3761548A allele and rs2232365G allele increased the risk of URSA (OR=1.73,1.61 ; all P ＜ 0.05 ).(2) There was no difference in the genotypic distribution of rs5902434del/ArTTpolymorphism between cases and controls ( P =0.10),but the frequency of del allele in URSA was statistically increased than that of controls (71.2％,62.5％ ; OR =1.49,P =0.04 ).(3) There was no different distribution in 3 genotypes (C/C,T/C,T/T) and 2 alleles (T and C) of rs2294021T/C between URSA patients and normal controls (P =0.18 and 0.08 ).(4) Estimated haplotype frequency distribution of rs5902434del/ATT,rs3761548A/C and rs22323565A/G showed haplotype del-A-G conferring the susceptibility to URSA ( OR =2.51,P ＜ 0.01 ) but haplotype del-C-G and ATT-A-A could provide protection on URSA ( OR =0.18,0.22 ; all P ＜ 0.01 ).Conclusion Functional polymorphisms of Foxp3 gene could probably confer the susceptibility to URSA,by altering Foxp3 function and (or) its expression.
