Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information.
Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information.
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DOI：
10.1093/nar/28.2.e8
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发表时间：
2000-01-15
影响因子：
14.9
通讯作者：
Tyler-Smith, C
中科院分区：
文献类型：
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作者：
Ayub, Q;Mohyuddin, A;Tyler-Smith, C
从人Y染色体1.33 Mb序列中寻找三至六核苷酸微卫星。共发现20个基因座含有8个或更多重复单元，且重复序列完全同源，其中18个是新发现的。6个基因座（1个三核苷酸、4个四核苷酸和1个五核苷酸）被组装成一个单一的多重反应，并在278名巴基斯坦男性样本中调查了它们的多态性程度。巴基斯坦的个体位点多样性为0.064 ~ 0.727，单倍型多样性为0.971。一个种群，哈扎拉人，表现出特别低的多样性，主要是两种单倍型。随着序列在数据库中建立起来，这样的直接方法将取代更有偏见和技术要求更高的间接方法来隔离微卫星。
1.33 Mb of sequence from the human Y chromosome was searched for tri- to hexanucleotide microsatellites. Twenty loci containing a stretch of eight or more repeat units with complete repeat sequence homo-geneity were found, 18 of which were novel. Six loci (one tri-, four tetra- and one pentanucleotide) were assembled into a single multiplex reaction and their degree of polymorphism was investigated in a sample of 278 males from Pakistan. Diversities of the individual loci ranged from 0.064 to 0.727 in Pakistan, while the haplotype diversity was 0.971. One population, the Hazara, showed particularly low diversity, with predominantly two haplotypes. As the sequence builds up in the databases, direct methods such as this will replace more biased and technically demanding indirect methods for the isolation of microsatellites.