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人类21号染色体:大约在1993年的基因组图谱绘制与探索

Human chromosome 21: genome mapping and exploration, circa 1993.

作者信息

Antonarakis S E

机构信息

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914.

出版信息

Trends Genet. 1993 Apr;9(4):142-8. doi: 10.1016/0168-9525(93)90210-9.

Abstract

Chromosome 21 is the smallest human chromosome, but one of considerable medical importance. A comprehensive physical map of overlapping YACs, a dense linkage map and an almost complete long-range restriction map have been produced much earlier than expected. These mapping accomplishments will greatly facilitate the exploration of chromosome 21, helping to characterize both genes and their impact in health and disease.

摘要

21号染色体是人类最小的染色体,但具有相当重要的医学意义。一张全面的酵母人工染色体(YAC)重叠物理图谱、一张密集的连锁图谱以及一张几乎完整的长程限制酶切图谱的绘制比预期要早得多。这些图谱绘制成果将极大地促进对21号染色体的探索,有助于确定基因及其对健康和疾病的影响。

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