医学遗传学——染色体分组、核型与显带.pptx

第二节 染色体分组、核型与显带;;;组;;女性：46，XX;非显带核型分析(karyotype analysis) ;三、染色体显带(chromosome banding); Q显带(Q banding) G显带(G banding) R显带(R banding) T显带(T banding) C显带(C banding) N显带(N banding) 高分辩显带染色体 (high resolution banding chromosome，HRBC);荧光染料氮芥喹吖因(quinacrine mustard，QM)显带;反带(reverse band);T带(T banding);C带(C banding);N带(N banding pattern);染色体的成份是核酸（DNA和RNA）和蛋白质（组蛋 白和非组蛋白）。染色体经胰蛋白酶处理后，蛋白 质因被水解而使DNA分子中的碱基暴露， 由于碱基 中G/C和A/T的比例不同，对染料结合的程度不一样 A/T碱基成份多，则 Giemsa染料易与它结合而深染 G/C碱基成份多，则 Giemsa染料不易与其结合而浅 染。染色体纵轴上呈现明暗相间或深浅不一的带纹;Chromosome specimens are dealed with alkali and Trypsase(parenzyme), and then stained by Giemsa, we can observe the alternate with bands of deep color and light color under the microscope.;;;;;;;;;;四、人类染色体命名国际体制;㈠界标(landmark)、区(region)、带(band);Region：the region between the two adjacent(neighboring) landmarks. The nomenclature of regions begin from centromere, the first region is the closest centromere, then the follows are named the second region, the third region, the fourth region in turn…;;1p31 1号染色体短臂3区1带;㈢高分辨显带染色体;;The figure shows the chromosome 1, please answer the questions. ;⑵What is the meaning of 1q23? 1q23 means band 3, region 2 of long arm of chromosome 1. ⑶According to the rules of human chromosome nomenclature, write the band name of the short arm end. 1p36 ⑷ Label 1q32 on the figure with an arrows. ;五、染色体的多态性;1、Y的长度变异存在种族差异，变异部位是 Y长臂 远端的2/3区段的长度变异。如果Y染色体大于F组 或大于第18号染色体，称长Y、大Y或巨Y、描述为 Yq+；如Y的长度为G组染色体长度的1/2以下，称 小Y染色体，描述为Yq-(罕见)。 2、D组、G组近端着丝粒染色体的短臂、随体及随 体柄部次缢痕区(NOR)变异。 3、第1、9 和16号染色体次缢痕的变异及着丝粒异 染色质区多态性的倒位。