11q13 allelotype analysis in 27 Northern American MEN1 kindreds identifies two distinct founder chromosomes

Michael R. Emmert-Buck, Larisa V. Debelenko, Sunita Agarwal, Mary Beth Kester, Pachiappan Manickam, Zhengping Zhuang, Siradanahalli C. Guru, Shodimu Emmanuel Olufemi, A. Lee Burns, Settara C. Chandrasekharappa, Irina A. Lubensky, Lance A. Liotta, Monica C. Skarulis, Allen M. Spiegel, Stephen J. Marx, Francis S. Collins

Research output: Contribution to journalArticle

9 Scopus citations


We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of allelic loss patterns in their tumors. Analysis of disease allele haplotypes showed unexpected linkage disequilibrium at marker PYGM. Further haplotype analysis indicated this could be explained by the presence of two founder chromosomes, one in four families, the other in three. A shared disease haplotype was not observed among two MEN1 kindreds with the prolactinoma phenotype of MEN1.

Original languageEnglish (US)
Pages (from-to)151-155
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Feb 1998
Externally publishedYes



  • Chromosome 11q13
  • Haplotype
  • MEN1

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Emmert-Buck, M. R., Debelenko, L. V., Agarwal, S., Kester, M. B., Manickam, P., Zhuang, Z., Guru, S. C., Olufemi, S. E., Burns, A. L., Chandrasekharappa, S. C., Lubensky, I. A., Liotta, L. A., Skarulis, M. C., Spiegel, A. M., Marx, S. J., & Collins, F. S. (1998). 11q13 allelotype analysis in 27 Northern American MEN1 kindreds identifies two distinct founder chromosomes. Molecular Genetics and Metabolism, 63(2), 151-155. https://doi.org/10.1006/mgme.1997.2649