Jabs E W, Warren A C, Taylor E W, Colyer C R, Meyers D A, Antonarakis S E
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Genomics. 1991 Jan;9(1):141-6. doi: 10.1016/0888-7543(91)90231-3.
Although alphoid DNA sequences shared among acrocentric chromosomes have been identified, no human chromosome 21-specific sequence has been isolated from the centromeric region. To identify alphoid DNA restriction fragment length polymorphisms (RFLPs) specific for chromosome 21, we hybridized human genomic DNA with alphoid DNA probes [L1.26; aRI(680),21-208] shared by chromosomes 13 and 21. We detected RFLPs with restriction enzymes ECoRI, HaeIII, MboI,StuI, and TaqI. The segregation of these RFLPs was analyzed in the 40 CEPH families. Linkage analysis between these RFLPs and loci previously mapped to either chromosome 13 or 21 revealed RFLPs that appear to be specific to chromosome 21. These polymorphisms may be useful as genetic markers of the centromeric region of chromosome 21. Different alphoid loci within the centromeric region of chromosome 13 were identified.
尽管已鉴定出在近端着丝粒染色体之间共享的α卫星DNA序列，但尚未从着丝粒区域分离出人类21号染色体特异性序列。为了鉴定21号染色体特异性的α卫星DNA限制性片段长度多态性（RFLP），我们用人基因组DNA与13号和21号染色体共享的α卫星DNA探针[L1.26；aRI(680),21-208]进行杂交。我们用限制性内切酶EcoRI、HaeIII、MboI、StuI和TaqI检测到RFLP。在40个CEPH家系中分析了这些RFLP的分离情况。这些RFLP与先前定位到13号或21号染色体的位点之间的连锁分析揭示了似乎是21号染色体特有的RFLP。这些多态性可能作为21号染色体着丝粒区域的遗传标记有用。在13号染色体着丝粒区域内鉴定出了不同的α卫星位点。
