PULSED-FIELD GEL ANALYSIS OF ALPHA-SATELLITE DNA AT THE HUMAN X-CHROMOSOME CENTROMERE - HIGH-FREQUENCY POLYMORPHISMS AND ARRAY SIZE ESTIMATE

PULSED-FIELD GEL ANALYSIS OF ALPHA-SATELLITE DNA AT THE HUMAN X-CHROMOSOME CENTROMERE - HIGH-FREQUENCY POLYMORPHISMS AND ARRAY SIZE ESTIMATE
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DOI:
10.1016/0888-7543(90)90206-a
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发表时间:
1990-08-01
期刊:
影响因子:
4.4
通讯作者:
WILLARD, HF
WILLARD, HF
中科院分区:
生物学3区
文献类型:
--
作者:
MAHTANI, MM;WILLARD, HF

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使用脉冲场凝胶分析(PFGE),我们已经表征了α-位于人类X染色体着丝粒区域的卫星DNA。该DNA家族的串联重复性质使其适合于使用限制酶通过PGE进行检查,所述限制酶在独特序列DNA中频繁切割,但在重复的α-DNA中很少切割。卫星阵列几种这样的限制性内切酶(BglI、BglII、Kpn I、Sca I)已经证明在确定α-DNA的大小方面具有高度的信息性。卫星阵列,并在以下分离的个人X染色体着丝粒使用PFGE多态性。在29个不同的X染色体中,α-卫星长度在1380和3730 kb之间变化(平均值= 2895 kb; SD = 537)。在三个大的CEPH家庭,包括24个减数分裂,这些PFGE多态性的遗传是严格的孟德尔,没有迹象表明intraarray重组。这种DXZ 1 α-因此,卫星多态性可能被证明在着丝粒周围X连锁疾病的研究中有用。
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 PGE 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 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.