Studies of meiotic origin of the extra chromosome 21 in Down syndromes detected by using (GT)n polymorphic DNA markers

Qing Hua Shi, Jian Xuan Zhang, Shu Juan Pan, Xi Ran Zhang, Yi Feng Chen, Xiang Nian Shan, Hao Jie Huang, Long Yu, Shou Yuan Zhao, Qi Ping Zheng, I. D. Adler

Research output: Contribution to journalArticle

Abstract

The polymorphics of two pericentric (GT) n sequences on the long arm of human chromosome 21 have been analyzed after PCR amplification, PAGE and Ag-staining for the first time in 50 Chinese Han people, and were used to detect meiotic origin of the extra chromosome 21 in Down syndromes. Six and 5 alleles were found in Chinese Han people for D21S215 and D21S120, respectively, with observed heterozigosities of 0.68 and polymorphic information content PIC, 0.67 and 0.65. For 17 Down syndromes whose parental origin of the extra chromosome 21 were known, meiotic origin of the extra chromosome 21 were determined in 16 cases, with 7 and 4 maternal meiosis I and II nondisjunction, 2 and 3 paternal meiosis I and II, respectively. The possible biological significance of the study on origin of the extra chromosome 21 has been discussed.

Original languageEnglish (US)
Pages (from-to)482-484
Number of pages3
JournalActa Genetica Sinica
Volume25
Issue number6
StatePublished - Dec 1 1998

Keywords

  • Chromosome 21
  • Down syndrome, (GT)n polymorphism
  • Meiotic origin
  • Nondisjunction

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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    Shi, Q. H., Zhang, J. X., Pan, S. J., Zhang, X. R., Chen, Y. F., Shan, X. N., Huang, H. J., Yu, L., Zhao, S. Y., Zheng, Q. P., & Adler, I. D. (1998). Studies of meiotic origin of the extra chromosome 21 in Down syndromes detected by using (GT)n polymorphic DNA markers. Acta Genetica Sinica, 25(6), 482-484.