Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)

Hiroki Kurahashi, Tamim H. Shaikh, Elaine H. Zackai, Livija Celle, Deborah A. Driscoll, Marcia L. Budarf, Beverly S. Emanuel

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability, which mediates the translocation. A PCR-based translocation-detection system for the t(11;22) has been developed with PCR primers flanking the PATRRs of both chromosomes, to examine the involvement of the PATRRs in the recurrent rearrangement. Forty unrelated carriers of the t(11;22) balanced translocation, plus two additional, independent cases with the supernumerary-der(22) syndrome, were analyzed to compare their translocation breakpoints. Similar translocation-specific junction fragments were obtained from both derivative chromosomes in all 40 carriers of the t(11;22) balanced translocation and from the der(22) in both of the offspring with unbalanced supernumerary-der(22) syndrome, suggesting that the breakpoints in all cases localize within these PATRRs and that the translocation is generated by a similar mechanism. This PCR strategy provides a convenient technique for rapid diagnosis of the translocation, indicating its utility for prenatal and preimplantation diagnosis in families including carriers of the balanced translocation.

Original languageEnglish
Pages (from-to)763-768
Number of pages6
JournalAmerican Journal of Human Genetics
Volume67
Issue number3
DOIs
Publication statusPublished - 01-01-2000
Externally publishedYes

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Chromosomes
Polymerase Chain Reaction
Preimplantation Diagnosis
Genomic Instability
Prenatal Diagnosis
Emanuel syndrome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kurahashi, Hiroki ; Shaikh, Tamim H. ; Zackai, Elaine H. ; Celle, Livija ; Driscoll, Deborah A. ; Budarf, Marcia L. ; Emanuel, Beverly S. / Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 3. pp. 763-768.
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Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). / Kurahashi, Hiroki; Shaikh, Tamim H.; Zackai, Elaine H.; Celle, Livija; Driscoll, Deborah A.; Budarf, Marcia L.; Emanuel, Beverly S.

In: American Journal of Human Genetics, Vol. 67, No. 3, 01.01.2000, p. 763-768.

Research output: Contribution to journalArticle

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AU - Kurahashi, Hiroki

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AU - Celle, Livija

AU - Driscoll, Deborah A.

AU - Budarf, Marcia L.

AU - Emanuel, Beverly S.

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