人类X染色体着丝粒处α卫星DNA的脉冲场凝胶分析：高频多态性及阵列大小估计

Pulsed-field gel analysis of alpha-satellite DNA at the human X chromosome centromere: high-frequency polymorphisms and array size estimate.

作者信息

Mahtani M M, Willard H F

机构信息

Department of Genetics, Stanford University, California 94305.

出版信息

Genomics. 1990 Aug;7(4):607-13. doi: 10.1016/0888-7543(90)90206-a.

DOI:10.1016/0888-7543(90)90206-a

PMID:1974881

Abstract

Using pulsed-field gel analysis (PFGE), we have characterized the large array of alpha-satellite DNA located in the centromeric region of the human X chromosome. The tandem repetitive nature of this DNA family lends itself to examination by PFGE using restriction enzymes that cleave frequently in unique sequence DNA but which cut only rarely within the repetitive alpha-satellite array. Several such restriction enzymes (BglI, BglII, KpnI, ScaI) have proven highly informative in sizing the alpha-satellite array and in following the segregation of individual X-chromosome centromeres using PFGE polymorphisms. Among 29 different X chromosomes, alpha-satellite array length varied between 1380 and 3730 kb (mean = 2895 kb; SD = 537). In three large CEPH families comprising 24 meioses, inheritance of these PFGE polymorphisms was strictly Mendelian, with no indication of intraarray recombination. Such DXZ1 alpha-satellite polymorphisms, therefore, may prove useful in the study of pericentromeric X-linked disorders.

摘要

我们使用脉冲场凝胶分析（PFGE）对位于人类X染色体着丝粒区域的大量α-卫星DNA进行了特征分析。这个DNA家族的串联重复性质使其适合通过PFGE进行检测，使用的限制酶在独特序列DNA中频繁切割，但在重复的α-卫星阵列中很少切割。几种这样的限制酶（BglI、BglII、KpnI、ScaI）已被证明在确定α-卫星阵列大小以及利用PFGE多态性追踪单个X染色体着丝粒的分离方面具有很高的信息量。在29条不同的X染色体中，α-卫星阵列长度在1380至3730 kb之间变化（平均值 = 2895 kb；标准差 = 537）。在包含24次减数分裂的三个大型CEPH家族中，这些PFGE多态性的遗传严格遵循孟德尔遗传规律，没有阵列内重组的迹象。因此，这种DXZ1α-卫星多态性可能在着丝粒周围X连锁疾病的研究中有用。