SINGLE-SPERM TYPING - DETERMINATION OF GENETIC-DISTANCE BETWEEN THE G-GAMMA-GLOBIN AND PARATHYROID-HORMONE LOCI BY USING THE POLYMERASE CHAIN-REACTION AND ALLELE-SPECIFIC OLIGOMERS
SINGLE-SPERM TYPING - DETERMINATION OF GENETIC-DISTANCE BETWEEN THE G-GAMMA-GLOBIN AND PARATHYROID-HORMONE LOCI BY USING THE POLYMERASE CHAIN-REACTION AND ALLELE-SPECIFIC OLIGOMERS
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DOI：
10.1073/pnas.86.23.9389
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发表时间：
1989-12-01
影响因子：
11.1
通讯作者：
ARNHEIM, N
中科院分区：
文献类型：
--
作者：
CUI, XF;LI, HH;ARNHEIM, N
g。γ之间的重组频率。通过对两名男性单精子样本进行分型，估计了人类11号染色体短臂上的-珠蛋白（HBG2）和甲状旁腺激素（PTH）位点。采用的精子分型技术包括聚合酶链反应和等位基因特异性寡核苷酸杂交。我们的最大似然重组分数估计为0.16(95%置信区间为0.13-0.19)，与以前基于家庭研究的估计完全吻合。以目前的技术和1000个精子的样本量，重组的分数降到了0.75%。0.009具有统计信度；在5000个精子的样本中，这个值下降到0.004左右。合理的技术改进可以使检测到的重组频率< 0.001。
The frequency of recombination between the G.gamma.-globin (HBG2) and parathyroid hormone (PTH) loci on the short arm of human chromosome 11 was estimated by typing > 700 single-sperm samples from two males. The sperm-typing technique employed involves the polymerase chain reaction and allele-specific oligonucleotide hybridization. Our maximum likelihood recombination fraction estimate of 0.16 (95% confidence interval, 0.13-0.19) falls well within previous estimates based on family studies. With current technology and a sample size of 1000 sperm, recombination fractions down to .apprxeq. 0.009 can be estimated with statistical reliability; with a sample size of 5000 sperm, this value drops to about 0.004. Reasonable technological improvements could result in the detection of recombination frequencies < 0.001.