人染色体核型基础（医学基础）

1、染色体数目和形态

在人染色体核型图的组成中，常染色体依照长度从长到短的顺序用数字1到22表示，性染色体用X和Y表示。

根据染色体大小递减的顺序和着丝粒的位置，可将所有染色体分为七组（A—G）。

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2、区、带、亚带的命名

G带：也叫G显带，这是临床上最常用的显带方法。用胰酶，缓冲液处理中期染色体标本均可显带。一般沿着染色体的臂从着丝粒开始向远端开始标记区和带。p和q分别用于表示染色体的短臂和长臂，着丝粒区定义为1区0带，即为10；向着短臂部分称为p10，面向长臂的部分称为q10。每条臂上与着丝粒相连的部分定义为1，稍远的区定义为2，依次类推。

一个特定的带通常包含下面四个部分：（1）染色体号，（2）臂的符号，（3）区号，（4）该带在所属区的带号。这四部分需要连续列出，中间不要有空格和间断。例如1p31表示1号染色体短臂3区1带。

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亚带命名示例为1p31.1，1p32.2和1p31.3，1p31.1靠近着丝粒，1p31.3远离着丝粒，如果亚带再予以分割，则只附加数字，中间不插入标记，如1p31.1可进一步分割为1p31.11, 1p31.12等，尽管在理论上，一条带任何时候可分割任意数目的新带，但通常一条带只分割为三条亚带。

人基因组总共划分了862个区带，每个带的位置见下文附表。

3、符号和简写术语

下表列出所有用来描述染色体和染色体畸变的符号和简写术语。

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4、正常变异染色体的特征

4.1异染色区，随体柄和随体的变异

4.1.1长度的变异

通过在相应染色体或其臂描述的符号h, stk, s之后加上“+”或“－”号，可以将异染色质片段，随体柄或随体长度变异和由于其它结构变异导致的染色体臂的长度的增减区分开来。

16qh+ 16号染色体长臂的异染色质区长度的增加

Yqh－ Y染色体长臂异染色质区长度的减少

21ps+ 21号染色体短臂的随体长度增加

22pstk+ 22号染色体短臂的随体柄长度增加

13cenh+pat 13号染色体的着丝粒区的异染色质长度增加，父系遗传

1qh-, 13cenh+, 22ps+ 1号染色体长臂异染色质长度减少，13号染色体着丝粒的异染色质长度的增加，以及22号染色体大随体。

15cenh+mat 15ps+pat 15号染色体着丝粒区异染色质长度增加，母系遗传，以及由父亲遗传而来的15号染色体大随体。

14cenh+pstk+ps+ 14号染色体着丝粒区异染色质长度，随体柄和随体长度的增加。

4.1.2数目和位置的变异

可用与上述相同的命名符号描述异染色质区，随体柄和随体的多样性

17ps 17号染色体短臂的随体

Yqs Y染色体长臂的随体

9phqh 9号染色体长臂和短臂的异染色质

9ph 9号染色体短臂的异染色质

1q41h 1号染色体短臂4区1带的异染色质

通过重复相应结构的描写可用于表示重复的染色体结构。

21pss 21号染色体短臂的双随体

14pstkstk 14号染色体短臂的双随体柄

相对而言，普通人群的倒位多样性由其常染色质的断裂位点来决定。

inv(9)(p12q13) 9号染色体的臂间倒位

inv(2)(p11.2q13) 2号染色体的臂间倒位

5、附表每个区带****的****位置

| chr1 | 0 | 2,300,000 | p36.33 |
| chr1 | 2,300,000 | 5,400,000 | p36.32 |
| chr1 | 5,400,000 | 7,200,000 | p36.31 |
| chr1 | 7,200,000 | 9,200,000 | p36.23 |
| chr1 | 9,200,000 | 12,700,000 | p36.22 |
| chr1 | 12,700,000 | 16,200,000 | p36.21 |
| chr1 | 16,200,000 | 20,400,000 | p36.13 |
| chr1 | 20,400,000 | 23,900,000 | p36.12 |
| chr1 | 23,900,000 | 28,000,000 | p36.11 |
| chr1 | 28,000,000 | 30,200,000 | p35.3 |
| chr1 | 30,200,000 | 32,400,000 | p35.2 |
| chr1 | 32,400,000 | 34,600,000 | p35.1 |
| chr1 | 34,600,000 | 40,100,000 | p34.3 |
| chr1 | 40,100,000 | 44,100,000 | p34.2 |
| chr1 | 44,100,000 | 46,800,000 | p34.1 |
| chr1 | 46,800,000 | 50,700,000 | p33 |
| chr1 | 50,700,000 | 56,100,000 | p32.3 |
| chr1 | 56,100,000 | 59,000,000 | p32.2 |
| chr1 | 59,000,000 | 61,300,000 | p32.1 |
| chr1 | 61,300,000 | 68,900,000 | p31.3 |
| chr1 | 68,900,000 | 69,700,000 | p31.2 |
| chr1 | 69,700,000 | 84,900,000 | p31.1 |
| chr1 | 84,900,000 | 88,400,000 | p22.3 |
| chr1 | 88,400,000 | 92,000,000 | p22.2 |
| chr1 | 92,000,000 | 94,700,000 | p22.1 |
| chr1 | 94,700,000 | 99,700,000 | p21.3 |
| chr1 | 99,700,000 | 102,200,000 | p21.2 |
| chr1 | 102,200,000 | 107,200,000 | p21.1 |
| chr1 | 107,200,000 | 111,800,000 | p13.3 |
| chr1 | 111,800,000 | 116,100,000 | p13.2 |
| chr1 | 116,100,000 | 117,800,000 | p13.1 |
| chr1 | 117,800,000 | 120,600,000 | p12 |
| chr1 | 120,600,000 | 121,500,000 | p11.2 |
| chr1 | 121,500,000 | 125,000,000 | p11.1 |
| chr1 | 125,000,000 | 128,900,000 | q11 |
| chr1 | 128,900,000 | 142,600,000 | q12 |
| chr1 | 142,600,000 | 147,000,000 | q21.1 |
| chr1 | 147,000,000 | 150,300,000 | q21.2 |
| chr1 | 150,300,000 | 155,000,000 | q21.3 |
| chr1 | 155,000,000 | 156,500,000 | q22 |
| chr1 | 156,500,000 | 159,100,000 | q23.1 |
| chr1 | 159,100,000 | 160,500,000 | q23.2 |
| chr1 | 160,500,000 | 165,500,000 | q23.3 |
| chr1 | 165,500,000 | 167,200,000 | q24.1 |
| chr1 | 167,200,000 | 170,900,000 | q24.2 |
| chr1 | 170,900,000 | 172,900,000 | q24.3 |
| chr1 | 172,900,000 | 176,000,000 | q25.1 |
| chr1 | 176,000,000 | 180,300,000 | q25.2 |
| chr1 | 180,300,000 | 185,800,000 | q25.3 |
| chr1 | 185,800,000 | 190,800,000 | q31.1 |
| chr1 | 190,800,000 | 193,800,000 | q31.2 |
| chr1 | 193,800,000 | 198,700,000 | q31.3 |
| chr1 | 198,700,000 | 207,200,000 | q32.1 |
| chr1 | 207,200,000 | 211,500,000 | q32.2 |
| chr1 | 211,500,000 | 214,500,000 | q32.3 |
| chr1 | 214,500,000 | 224,100,000 | q41 |
| chr1 | 224,100,000 | 224,600,000 | q42.11 |
| chr1 | 224,600,000 | 227,000,000 | q42.12 |
| chr1 | 227,000,000 | 230,700,000 | q42.13 |
| chr1 | 230,700,000 | 234,700,000 | q42.2 |
| chr1 | 234,700,000 | 236,600,000 | q42.3 |
| chr1 | 236,600,000 | 243,700,000 | q43 |
| chr1 | 243,700,000 | 249,250,621 | q44 |
| chr10 | 0 | 3,000,000 | p15.3 |
| chr10 | 3,000,000 | 3,800,000 | p15.2 |
| chr10 | 3,800,000 | 6,600,000 | p15.1 |
| chr10 | 6,600,000 | 12,200,000 | p14 |
| chr10 | 12,200,000 | 17,300,000 | p13 |
| chr10 | 17,300,000 | 18,600,000 | p12.33 |
| chr10 | 18,600,000 | 18,700,000 | p12.32 |
| chr10 | 18,700,000 | 22,600,000 | p12.31 |
| chr10 | 22,600,000 | 24,600,000 | p12.2 |
| chr10 | 24,600,000 | 29,600,000 | p12.1 |
| chr10 | 29,600,000 | 31,300,000 | p11.23 |
| chr10 | 31,300,000 | 34,400,000 | p11.22 |
| chr10 | 34,400,000 | 38,000,000 | p11.21 |
| chr10 | 38,000,000 | 40,200,000 | p11.1 |
| chr10 | 40,200,000 | 42,300,000 | q11.1 |
| chr10 | 42,300,000 | 46,100,000 | q11.21 |
| chr10 | 46,100,000 | 49,900,000 | q11.22 |
| chr10 | 49,900,000 | 52,900,000 | q11.23 |
| chr10 | 52,900,000 | 61,200,000 | q21.1 |
| chr10 | 61,200,000 | 64,500,000 | q21.2 |
| chr10 | 64,500,000 | 70,600,000 | q21.3 |
| chr10 | 70,600,000 | 74,900,000 | q22.1 |
| chr10 | 74,900,000 | 77,700,000 | q22.2 |
| chr10 | 77,700,000 | 82,000,000 | q22.3 |
| chr10 | 82,000,000 | 87,900,000 | q23.1 |
| chr10 | 87,900,000 | 89,500,000 | q23.2 |
| chr10 | 89,500,000 | 92,900,000 | q23.31 |
| chr10 | 92,900,000 | 94,100,000 | q23.32 |
| chr10 | 94,100,000 | 97,000,000 | q23.33 |
| chr10 | 97,000,000 | 99,300,000 | q24.1 |
| chr10 | 99,300,000 | 101,900,000 | q24.2 |
| chr10 | 101,900,000 | 103,000,000 | q24.31 |
| chr10 | 103,000,000 | 104,900,000 | q24.32 |
| chr10 | 104,900,000 | 105,800,000 | q24.33 |
| chr10 | 105,800,000 | 111,900,000 | q25.1 |
| chr10 | 111,900,000 | 114,900,000 | q25.2 |
| chr10 | 114,900,000 | 119,100,000 | q25.3 |
| chr10 | 119,100,000 | 121,700,000 | q26.11 |
| chr10 | 121,700,000 | 123,100,000 | q26.12 |
| chr10 | 123,100,000 | 127,500,000 | q26.13 |
| chr10 | 127,500,000 | 130,600,000 | q26.2 |
| chr10 | 130,600,000 | 135,534,747 | q26.3 |
| chr11 | 0 | 2,800,000 | p15.5 |
| chr11 | 2,800,000 | 10,700,000 | p15.4 |
| chr11 | 10,700,000 | 12,700,000 | p15.3 |
| chr11 | 12,700,000 | 16,200,000 | p15.2 |
| chr11 | 16,200,000 | 21,700,000 | p15.1 |
| chr11 | 21,700,000 | 26,100,000 | p14.3 |
| chr11 | 26,100,000 | 27,200,000 | p14.2 |
| chr11 | 27,200,000 | 31,000,000 | p14.1 |
| chr11 | 31,000,000 | 36,400,000 | p13 |
| chr11 | 36,400,000 | 43,500,000 | p12 |
| chr11 | 43,500,000 | 48,800,000 | p11.2 |
| chr11 | 48,800,000 | 51,600,000 | p11.12 |
| chr11 | 51,600,000 | 53,700,000 | p11.11 |
| chr11 | 53,700,000 | 55,700,000 | q11 |
| chr11 | 55,700,000 | 59,900,000 | q12.1 |
| chr11 | 59,900,000 | 61,700,000 | q12.2 |
| chr11 | 61,700,000 | 63,400,000 | q12.3 |
| chr11 | 63,400,000 | 65,900,000 | q13.1 |
| chr11 | 65,900,000 | 68,400,000 | q13.2 |
| chr11 | 68,400,000 | 70,400,000 | q13.3 |
| chr11 | 70,400,000 | 75,200,000 | q13.4 |
| chr11 | 75,200,000 | 77,100,000 |