本文關(guān)鍵詞：平衡復(fù)雜染色體重排攜帶者的遺傳與生育情況分析　出處：《遺傳》2017年05期 　論文類型：期刊論文

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【摘要】：為探討中國(guó)人群平衡復(fù)雜染色體重排(complex chromosome rearrangements,CCRs)的類型、特征和減數(shù)分裂行為及其與生殖異常的關(guān)系,采用常規(guī)G顯帶技術(shù)對(duì)因生育問題就診的1063對(duì)夫婦進(jìn)行核型分析,并檢索中國(guó)人群平衡CCR攜帶者的核型及臨床資料進(jìn)行統(tǒng)計(jì)分析。在受檢者中檢出2例平衡CCR攜帶者,并從國(guó)內(nèi)外數(shù)據(jù)庫(kù)中檢索發(fā)現(xiàn)的平衡CCR攜帶者總共124例,3方和4方重排為主要類型,占51.6%,雙重相互易位占26.6%,特殊CCR占21.8%。平衡CCR攜帶者或其配偶自然流產(chǎn)和胚胎停止發(fā)育(胎停育)發(fā)生率為77.6%,多發(fā)性先天畸形(multiple congenital abnormalities,MCA)等不良妊娠發(fā)生率為9.7%。三種類型平衡CCR攜帶者各種妊娠結(jié)局發(fā)生率的差異具有統(tǒng)計(jì)學(xué)意義(P0.05)。對(duì)男性CCRs累及的染色體分析發(fā)現(xiàn),累及1號(hào)染色體的CCRs多表現(xiàn)為生精障礙,累及8號(hào)染色體的CCRs多發(fā)生不良妊娠(P≤0.05)。分析CCRs減數(shù)分裂染色體分離模式發(fā)現(xiàn),后代的異常核型多來自于鄰近-1分離方式(8/12)。發(fā)生不對(duì)稱分離(3:2、4:2和5:3分離)的CCRs中D-G組染色體累及頻率相對(duì)高(46.2%)。結(jié)果表明,平衡CCR攜帶者不良妊娠風(fēng)險(xiǎn)高,即使正常妊娠也應(yīng)進(jìn)行產(chǎn)前診斷。男性平衡CCR攜帶者生精障礙發(fā)生機(jī)率高,CCRs累及的染色體對(duì)男性攜帶者生育能力有影響。另外,CCRs攜帶者減數(shù)分裂染色體分離模式也與累及的染色體有關(guān)。分析CCRs的類型、累及的染色體和易位片段的大小等因素可針對(duì)特定CCR做出更準(zhǔn)確的遺傳和生育指導(dǎo)。
[Abstract]:In order to investigate the China population balanced complex chromosomal rearrangement (complex chromosome rearrangements, CCRs) of the type, characteristics and meiotic behavior and its relationship with reproductive abnormalities, using conventional G karyotype analysis of 1063 couples with fertility problems were banding, and retrieval and clinical data of China population balance with CCR karyotype analysis. Among the subjects, 2 cases of balanced CCR carriers were detected, and 124 cases of balanced CCR carriers were retrieved from domestic and foreign databases. The 3 party and 4 Party rearranged as the main type, accounting for 51.6%, the double reciprocal translocation accounted for 26.6%, and the special CCR accounted for 21.8%. The incidence of spontaneous abortion and embryo stop development (fetal arrest) of CCR carriers or their spouses was 77.6%, and the incidence of adverse pregnancy of multiple congenital abnormalities (MCA) was 9.7%. The difference in the incidence of pregnancy outcomes of three types of balanced CCR carriers was statistically significant (P0.05). For the men involved in CCRs chromosome analysis showed that chromosome 1 CCRs showed dyszoospermia, chromosome 8 CCRs the occurrence of adverse pregnancy (P = 0.05). The analysis of chromosome segregation patterns in CCRs meiosis showed that the abnormal karyotype of offspring came from the adjacent -1 separation mode (8/12). The frequencies of chromosomes involved in the D-G group of CCRs in CCRs with asymmetric separation (3:2, 4:2 and 5:3 separation) were relatively high (46.2%). The results showed that the risk of undesirable pregnancy was high in the balanced CCR carrier, and the prenatal diagnosis should be carried out even in the normal pregnancy. The incidence of spermatogenesis disorders in male balanced CCR carriers is high, and the chromosomes involved in CCRs have an impact on the fertility of male carriers. In addition, the meiotic chromosome segregation pattern of CCRs carriers is also related to the chromosomes involved. The analysis of the types of CCRs, the size of the chromosomes involved and the size of the translocation fragments can make more accurate genetic and reproductive guidance for specific CCR.
【作者單位】： 蚌埠醫(yī)學(xué)院生物科學(xué)系;
【基金】：安徽省高等學(xué)校省級(jí)自然科學(xué)研究重點(diǎn)項(xiàng)目(編號(hào):KJ2015A263) 國(guó)家級(jí)大學(xué)生創(chuàng)新創(chuàng)業(yè)訓(xùn)練計(jì)劃項(xiàng)目(編號(hào):201510367042)資助~~
【分類號(hào)】：R394
【正文快照】： 復(fù)雜染色體重排(complex chromosome rearran-gements,CCRs)是涉及2條或2條以上染色體、至少3個(gè)斷裂點(diǎn)的染色體結(jié)構(gòu)畸變,畸變類型主要為易位。多數(shù)CCRs往往涉及3條及以上染色體、3個(gè)或者更多斷裂點(diǎn)。CCRs雖較為罕見,但種類較多,根據(jù)重排類型及復(fù)雜程度,通常將CCRs分為3種類型[

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