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遺傳咨詢者染色體多態(tài)性與臨床效應(yīng)的研究

發(fā)布時(shí)間:2019-03-16 22:39
【摘要】:目的研究遺傳咨詢者染色體多態(tài)性與臨床效應(yīng)之間的關(guān)系。方法將1500例遺傳咨詢者為研究對(duì)象、采用常規(guī)方法進(jìn)行外周血染色體的培養(yǎng)和制備,核型分析法采用G、C顯帶法.針對(duì)咨詢者的具體情況進(jìn)行AZF區(qū)微缺失檢測.觀察分析染色體多態(tài)性與臨床效應(yīng)的關(guān)系。結(jié)果檢出染色體多態(tài)者110例,其中9號(hào)染色體臂間倒位32例.小Y 35例,大Y8例,D、G組短臂增長30例,1號(hào)和9號(hào)以及16號(hào)染色體次縊痕增長5例。結(jié)論染色體多態(tài)與臨床效應(yīng)具有一定的對(duì)應(yīng)關(guān)系,可造成不孕不育和流產(chǎn)以及死胎等生殖異常,在孕前進(jìn)行遺傳咨詢對(duì)優(yōu)生優(yōu)育具有重要的意義。
[Abstract]:Objective to study the relationship between chromosome polymorphism and clinical effects in genetic counselors. Methods 1500 cases of genetic counseling were used to culture and prepare peripheral blood chromosomes by routine methods. G and C banding methods were used for karyotype analysis. According to the specific situation of the counselor, the microdeletion detection in AZF area was carried out. The relationship between chromosome polymorphism and clinical effect was observed and analyzed. Results chromosome polymorphism was detected in 110 cases, including 32 cases of interarm inversion of chromosome 9. There were 35 cases of small Y, 8 cases of large Y, 30 cases of short arm growth, 5 cases of secondary constriction on chromosome 1 and 9, and 5 cases of chromosome 16 in G group. Conclusion there is a corresponding relationship between chromosome polymorphism and clinical effects, which can lead to infertility, abortion and reproductive abnormalities such as stillbirth. Genetic counseling before pregnancy is of great significance to eugeny and fertility. [WT5 "HZ] conclusion [WT5" BZ] [WT5 "BZ]
【作者單位】: 山東省濟(jì)寧市第一人民醫(yī)院檢驗(yàn)醫(yī)學(xué)部;山東省濟(jì)寧市第一人民醫(yī)院;
【分類號(hào)】:R394

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