人类21号染色体q21区域的五个新微卫星多态性。

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

作者信息

Bosch A, Wiemann S, Guimerà J, Ansorge W, Patterson D, Estivill X

机构信息

Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.

出版信息

Hum Genet. 1995 Jan;95(1):119-22. doi: 10.1007/BF00225090.

DOI:10.1007/BF00225090

PMID:7814016

Abstract

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.

摘要

从一个特定的人类21号染色体噬菌体文库中分离出了五个含有多态性CA重复序列的克隆，并利用体细胞杂交板将它们定位到21号染色体的q21带。这些高度重复序列（D21S1263、D21S1264、D21S1415、D21S1417和D21S1420）已在CEPH参考亲代中得到表征，杂合度范围为0.30至0.81，平均多态性信息含量（PIC）为0.62。基于体细胞杂交板，这些标记的相对顺序为cen-D21S1417、D21S1420-D21S1263、D21S1415-D21S1264-端粒。多态性最高的标记（D21S1264）已被纳入21号染色体遗传图谱。它们也已定位在CEPH/Genéthon YAC板中，为这些多态性序列提供了更精确的定位。这五个CA重复标记应该能更好地表征21号染色体的q21区域。