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.
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 greater than 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 approximately 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 less than 0.001.
Cui
X F
XF
Department of Biological Sciences, University of Southern California, Los Angeles 90089-1340.
Li
H H
HH
Goradia
T M
TM
Lange
K
K
Kazazian
H H
HH
Galas
D
D
Arnheim
N
N
D000483:Alleles; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D004259:DNA-Directed DNA Polymerase; D015252:Deoxyribonucleases, Type II Site-Specific; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D010281:Parathyroid Hormone / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D011336:Probability; D011995:Recombination, Genetic; D013094:Spermatozoa / Q000166:cytology*
D015345:Oligonucleotide Probes; D010281:Parathyroid Hormone; D005914:Globins; D004259:DNA-Directed DNA Polymerase; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases