Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosome Mapping*
  • Chromosomes, Human*
  • DNA-Directed DNA Polymerase
  • Gene Amplification
  • Gene Frequency
  • Humans
  • Male
  • Models, Statistical
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Probability
  • Spermatozoa / analysis*

Substances

  • DNA-Directed DNA Polymerase