Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

H Kurahashi; B S Emanuel

doi:10.1038/ng1001-139

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

Nat Genet. 2001 Oct;29(2):139-40. doi: 10.1038/ng1001-139.

Authors

H Kurahashi¹, B S Emanuel

Affiliation

¹ Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Abramson Research Center Building, 3516 Civic Center Boulevard, Philadelphia, Pennsylvania, USA.

PMID: 11586296
DOI: 10.1038/ng1001-139

Abstract

Junction fragments from the constitutional t(11;22)(q23;q11) translocation have previously been cloned and sequenced. Here we report a high incidence of translocation-specific PCR products in sperm DNA from normal individuals. Somatic DNA from these and other normal individuals or from people with chromosomal breakage syndromes do not yield PCR junction fragments, indicating that this translocation originates during meiosis.

Publication types

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

MeSH terms

Adult
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 12*
Humans
Male
Polymerase Chain Reaction
Reference Values
Spermatozoa / ultrastructure*
Translocation, Genetic*

Abstract

Publication types

MeSH terms

Grants and funding