最新ChapterPrinciplesofClinicalCytogenetics精品.pptVIP

Chapter 5 Principles of Clinical Cytogenetics 第5章 临床细胞遗传学原理 Chromosome disorders（染色体病） It has been apparent for nearly 50 years that chromosome abnormalities-microscopically visible changes in the number or structure of chromosomes-could account for a number of clinical conditions that are thus referred to as chromosome disorders. 近50年的研究表明，显微镜下可见的染色体数目或结构异常（染色体畸变）可导致许多临床表征，即染色体病。 Chromosome disorders form a major category of genetic disease. They account for a large proportion of all reproductive wastage, congenital malformations, and mental retardation and play an important role in the pathogenesis of malignant disease. Specific chromosome abnormalities are responsible for hundreds of identifiable syndromes that are collectively more common than all the mendelian single-gene disorders together. Cytogenetic disorders are present in nearly 1% of live births, in about 2% of pregnancies in women older than 35 years who undergo prenatal diagnosis, and in fully half of all spontaneous first-trimester abortions. 染色体病是一大类遗传病。许多死产、流产、先天性畸形和智力发育迟缓都属于染色体病。染色体畸变也是恶性肿瘤重要的发病机制之一。各种特定的染色体畸变与许多已明确的综合征相关，这些综合征比所有孟德尔遗传的单基因病更为常见。染色体病约占活婴的1%，在35岁以上高龄产妇的产前诊断中约占2%，在早期自然流产胎儿中约占50%。 Introduction to cytogenetics（细胞遗传学导论） To be examined by chromosome analysis for routine clinical purposes, cells must be capable of growth and rapid division in culture. The most readily accessible cells that meet this requirement are white blood cells, specifically T lymphocytes. To prepare a short-term culture that is suitable for cytogenetic analysis of these cells, a sample of peripheral blood is obtained, usually by venipuncture, and mixed with heparin to prevent clotting. The white blood cells are collected, placed in tissue culture medium, and stimulated to divide. After a few days, the dividing cells are arrested in metaphase with chemicals that inhibit the mitotic spindle, collected, and treated with a hypotonic solution to release the chromosomes. Chromosomes are then fixed, spread on slides, a