22号染色体与疾病.pdf

北 京 医 科 大 学 学 报 JOURNAL OF BEIJ IN G MEDICAL UNIVERSITY 　Vol. 32 　No. 5 　Oct . 2000 4·69 · 22 号染色体与疾病 杨 　诺 ,鹿培源 ,贾弘礻是 (北京大学基础医学院生物化学与分子生物学系 ,北京 　100083) [ 关键词] 染色体 ,人 ,22 对 ;染色体异常 [摘 　要] 22 号染色体是人类基因组计划实施以来最先完成序列测定的常染色体。序列分析揭示 ,22 号染色体长 臂含有 679 个基因 ,包括 247 个“已知基因”,150 个“相关基因”,148 个“预报基因”和 134 个“假基因”。综合目前认 识 ,与 22 号染色体相关的疾病大致可分为 3 类 :先天发育异常、肿瘤和某些疾病易感性。对该染色体 DNA 序列的 测定不仅有助于人们了解其基因特性 ,还为探索有关疾病的发病机制并最终攻克疾病提供了重要信息。 ( ) [ 中图分类号] Q343. 245 　　[文献标识码] A 　　[文章编号] 2000 Human chromosome 22 and diseases YAN G Nuo , LU PeiYuan , J IA HongTi (Department of Biochemistry and Molecular Biology , Peking University School of Basic Medical Sciences , Beijin g 　100083) KEY WORDS 　 Chromosomes , human , Pair 22 ; Chromosomes abnormalities ABSTRACT 　 Chromosome 22 is the first sequenced human autosome since Human Genome Project was launched. Sequence analysis revealed that the long arm of human chromosome 22 contains 679 genes , in which 247 known genes , 150 relative genes , 148 predicted genes and 134 pseudo genes. As known so far , the diseases related with chromosome 22 can be generally divided into three groups : genetic de velopmental anomaly , tumor and susceptibilit y to certain diseases. The success of this important chro mosome sequencing will not only help people understand the characteristics of its genes , but also pro vide important information to unravel the etiology of certain diseases and contribute to the final c