習慣性流產夫婦的核型研究

Abstract

本文報告習慣性流產夫婦的核型分析。 取習慣性流產夫婦的靜脈血，做淋巴球的短期培養，用植物性凝集素刺激使其增生，以製備分裂中期板的風乾片，用一般染色及吉氏紋帶染色法處理，在光學顯微鏡下觀察和攝影，並製成核型剪影分析。 結果發現：(1)在45位習慣性流產夫婦檢樣中，僅發現變異核型一例，其頻度為2.2％。該檢體的核形為45, XX, t (13q 14q)，屬染色體13及14羅氏轉位平衡異合子。（2）夫婦之一方屬轉位染色體平衡核型（包括羅氏轉位及相互轉位染色體）時，若丈夫核型變異，則該夫婦流產率較妻子核型變異者為低。（3）前述夫婦的子女中，繼承轉位染色體機率較繼承正常染色體機率為高。文中討論習慣性流產與核型變異的關係，比較攜帶轉位染色體的男性和女性之生育力以及該染色體優先遺傳的原因。

The karyotypes of habitual aborters were studied. The metaphase plates of the phytohemagglutinin activated lymphocytes were stained with conventional Giemsa as well as Giemsa-trypsin stain and examined with the brightfield microscopy. The results are as followings: (1) One abnormal karyotype was recognized in 45 habitual aborters, a frequency of 2.2%. The karyotype is 45, XX, t (13q14q), a heterozygote of the balanced Robertsonian translocation. (2) In a couple made up of one normal karyotype and one abnormal karyotype of the Robertsonian translocation heterozygote, the abortion rate was lower in couples in which the husband was the marker chromosome carrier. (3) The marker was transmitted more frequently than its homologous one．The frequency of the abnormal karyotypes in habitual aborters was compared with other reports. The inheritance of the abnormal chromosomes and the reproductive performance of their carriers were discussed.