Absence of age effect on meiotic recombination between human X and Y chromosomes

Qinghua Shi, Elizabeth Spriggs, L. Leigh Field, Alfred Rademaker, Evelyn Ko, Leona Barclay, Renée H. Martin

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Recombination between the X and Y chromosomes is limited to the pseudoautosomal region and is necessary for proper segregation of the sex chromosomes during spermatogenesis. Failure of the sex chromosomes to disjoin properly during meiosis can result in individuals with a 47, XXY constitution, and approximately one-half of these result from paternal nondisjunction at meiosis I. Analysis of individuals with paternally derived 47, XXY has shown that the majority are the result of meiosis in which the X and Y chromosomes have failed to recombine. Our studies of sperm have demonstrated that aneuploid 24, XY sperm have a decreased recombination frequency, compared with that of normal sperm. Some studies have indicated a relationship of increased paternal age with 47, XXY offspring and with the production of XY disomic sperm, whereas others have failed to find such relationships. To determine whether there is a relationship between paternal age and recombination in the pseudoautosomal region, single-sperm genotyping was performed to measure the frequency of recombination between a sex-specific locus, STS/STS pseudogene, and a pseudoautosomal locus, DXYS15, in younger men (age ≤30 years) compared with older men (age ≥50 years). A total of 2,329 sperm cells were typed by single-sperm PCR in 20 men who were heterozygous for the DXYS15 locus (1,014 sperm from 10 younger men and 1,315 sperm from 10 older men). The mean recombination frequency was 39.2% in the younger men and 37.8% in the older men. There was no heterogeneity in the frequency of recombination rates. There was no significant difference between the recombination frequencies among the younger men and those among the older men, when analyzed by the clustered binomial Z test (Z =. 69, P =. 49). This result suggests that paternal age has no effect on the recombination frequency in the pseudoautosomal region.

Original languageEnglish (US)
Pages (from-to)254-261
Number of pages8
JournalAmerican journal of human genetics
Issue number2
StatePublished - 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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