利用单精子聚合酶链反应进行人类染色体精细结构基因图谱绘制：实验设计考量
Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.
作者信息
Boehnke M, Arnheim N, Li H, Collins F S
机构信息
Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor 48109.
出版信息
Am J Hum Genet. 1989 Jul;45(1):21-32.
Abstract
The polymerase chain reaction (PCR) makes it possible to rapidly generate a very large number of copies of a specific region of DNA. Application of PCR to individual human sperm cells permits the typing of a large number of independent male meiotic events. If the donor male is heterozygous at three loci, sperm typing using PCR will permit ordering of loci in a manner analogous to classical methods of experimental genetics. Sequential analysis of trios of loci by sperm typing will provide a very accurate means of ordering any number of tightly linked loci. Here, we describe experimental design and sample-size issues raised by the application of sperm typing by PCR for mapping human chromosomes, and we demonstrate that sperm typing will be an efficient method for generating fine-structure human genetic maps.
摘要
聚合酶链反应（PCR）使快速生成特定DNA区域的大量拷贝成为可能。将PCR应用于单个人类精子细胞可对大量独立的男性减数分裂事件进行分型。如果供体男性在三个基因座处为杂合子，那么使用PCR进行精子分型将能够以类似于经典实验遗传学方法的方式对基因座进行排序。通过精子分型对三个基因座组成的三联体进行顺序分析，将为排列任意数量紧密连锁的基因座提供一种非常准确的方法。在此，我们描述了将PCR精子分型应用于人类染色体图谱绘制所引发的实验设计和样本量问题，并且我们证明精子分型将是生成精细结构人类遗传图谱的一种有效方法。
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