Abstract
The frequency of recombination between the (G)γ-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 ~ 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.
Original language | English (US) |
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Pages (from-to) | 9389-9393 |
Number of pages | 5 |
Journal | Proceedings of the National Academy of Sciences of the United States of America |
Volume | 86 |
Issue number | 23 |
DOIs | |
State | Published - 1989 |
Externally published | Yes |
Keywords
- genetic recombination
- linkage
ASJC Scopus subject areas
- General