Five new microsatellite polymorphisms at the q21 region of human chromosome 21

Assumpció Bosch, Stefan Wiemann, Jordi Guimerá, Wilhelm Ansorge, David Patterson, Xavier P. Estivill

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Five clones, containing polymorphic CA-repeat sequences, have been isolated from a specific human chromosome 21 phage library and have been localised to band q21 of chromosome 21 using a somatic cell hybrid panel. These highly repetitive sequences (D21S1263, D21S1264, D21S1415, D21S1417 and D21S1420) have been characterised in the CEPH reference parents and have heterozygosities ranging from 0.30 to 0.81 and an average polymorphism information content (PIC) of 0.62. The relative order of these markers, based on the somatic cell hybrid panel, is cen-D21S1417, D21S1420-D21S1263, D21S1415-D21S1264-tel. The most polymorphic marker (D21S1264) has been included in the chromosome 21 genetic map. They have also been localised in the CEPH/ Généthon YAC panel, providing a refined localisation of these polymorphic sequences. These five CA-repeat markers should provide a better characterisation of the q21 region of chromosome 21.

Original languageEnglish
Pages (from-to)119-122
Number of pages4
JournalHuman Genetics
Issue number1
Publication statusPublished - Jan 1995
Externally publishedYes


ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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